Angelina's Impact: Genetic Counselors Share

It's been five years since Angelina Jolie announced to the world she carries a BRCA1 mutation and had a prophylactic double mastectomy to lower her risks of developing breast cancer. Below genetic counselors reflect on the impact she has made by sharing her story and starting widespread conversation about hereditary cancer and prevention.

Angelina Jolie’s disclosure of her BRCA1 mutation and subsequent risk reducing surgeries launched a thoughtful national discussion about genetic counseling and testing that no public service announcement could have accomplished. As a result, many women who otherwise might not have pursued testing did so, and for those who tested positive, the information may have been lifesaving. The reaction to Jolie’s announcement in combination with the Supreme Court’s holding against gene patenting and the subsequent drop in BRCA testing costs have contributed to a provocative debate about whether the time is right to offer population screening for hereditary breast/ovarian cancer.
— Beth N. Peshkin, MS, CGC, Professor of Oncology, Georgetown Lombardi Comprehensive Cancer Center
Angelina Jolie’s disclosure of her BRCA+ status seems to have increased awareness of BRCA-related breast and ovarian cancer specifically and of the availability of genetic testing for hereditary cancer susceptibility in general. The media coverage of her story led to an increase in self-referred patients to our cancer genetic counseling clinic, some citing her story specifically. Ms. Jolie’s disclosure of her medical management decisions after her positive test result also increased awareness of prophylactic surgery options, followed by strong reactions from some patients: “If I were BRCA+, I would definitely/never do what Angelia Jolie did.”
— Meagan Farmer, MS, CGC Cancer Genetic Counseling Director, UAB Department of Genetics
Angelina Jolie’s disclosure of her BRCA+ status has provided a reference frame and initiated a discussion about cancer genetic testing and prevention in a way that hadn’t been done previously. Her candid sharing in the mainstream media allowed for a glimpse into the complexity of addressing hereditary cancer risk and put genetic counseling in the spotlight. I think genetic counselors universally agree with her: “knowledge is power.”
— Leigha Senter-Jamieson, MS, LGC, Associate Professor, Clinical, The Ohio State University
Angelina Jolie’s disclosure of her BRCA status helped to revive the very important conversation between patients and primary care providers regarding family history. Subsequently, a larger volume of patients and providers are referring to cancer genetic counselors who are experts in the areas of discussing appropriate genetic testing options and the risks and management associated with high risk hereditary cancer syndromes. Ms. Jolie’s willingness to speak openly on this topic has given strength to individuals with a personal and/or family history of cancer to seek out information regarding genetic counseling and testing and we hope that these conversations continue in the future.
— Marjan Champine, MS, CGC, Clinical Lead Genetic Counselor, Huntsman Cancer Institute, Salt Lake City, UT
Angelina Jolie’s editorial sparked an important nationwide conversation about hereditary cancers. Fuel was added just a few weeks later when The Supreme Court ruled to overturn patents on the BRCA genes. The combined news attention of these events turned the BRCA genes into household names and drove the demand for genetic counseling and testing skyward. As the options for consumers to pursue genetic testing continue to grow, the field of genetic counseling is transforming to meet these needs. New ways to access critical genetic information are now available through telemedicine and digital genetic counseling tools.
— Danielle Bonadies, MS, CGC, Director of Cancer Genetics, My Gene Counsel, @dcBonadies

 

 

Photo Credit: Foreign and Commonwealth Office via Flickr

Angelina's Impact: Advocates Share

It's been five years since Angelina Jolie announced to the world she carries a BRCA1 mutation and had a prophylactic double mastectomy to lower her risks of developing breast cancer. Below advocates reflect on the impact she has made by sharing her story and starting widespread conversation about hereditary cancer and prevention.

Angelina’s efforts have done a great deal to raise awareness for genetic testing. As an advocate for those with hereditary cancer syndromes, I see the negative effects of genetic testing without certified genetic counseling every single day. “Knowledge is only power” when people truly understand their risks and have the resources to take action — unfortunately for many people, this is simply not case.
— Georgia M. Hurst @SheWithLynch ihavelynchsyndrome.com (501c3)
Prevention is priceless. In Angelina Jolie’s very own words, “The beautiful thing about such moments in life is that there is so much clarity. You know what you live for and what matters. It is polarizing, and it is peaceful.” #geneticcounseling #hereditarycancer #genetictesting #savinglives #makingAdifference
— Lisa M Guzzardi @LGuzzardiM https://www.facebook.com/groups/420494918068983/
I am grateful that Angelina Jolie had the bravery to share her story and start a discussion with the world. Three years later and her impact is still being felt in regards to genetic testing and prophylactic surgeries. Kudos to her.
— Karen Lazarovitz @Karenbrcamtl www.beautyonmyterms.com Instagram: @karenlazarovitz_brca
Ms. Jolie’s candid disclosure around her genetic testing results and her personal decision to make proactive choices based on those results, brought the subject of genetic testing into the limelight and triggered important dialogue around education, access, privacy and applicability of genetic screening.
— Stacey Tinianov @coffeemommy http://www.linkedin.com/in/staceytinianov
Angelina Jolie’s disclosure ignited worldwide media attention with the primary focus of the media being on her mastectomy and her particular gene mutation, BRCA. The “missed” message from Jolie’s disclosure continues to be my biggest platform in my advocacy efforts: Knowledge from genetic testing is only useful if an individual has had an accurate cancer risk assessment, result interpretation and receives the correct healthcare recommendations. The most qualified person to provide that knowledge is a certified genetic counselor.
— Amy Byer Shainman @BRCAresponder http://thebrcaresponder.blogspot.com Hereditary Cancer/BRCA Advocate Executive Producer Pink & Blue: Colors of Hereditary Cancer

Photo Credit: Foreign and Commonwealth Office via Flickr

Trailblazing Genetic Counselors Episode 16: Canadian GCs

This is the sixteenth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ (NSGC) website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 570 professionals in the field, all in one stream.

In this installment, we interview genetic counselors practicing in Canada (aka genetic counsellors) as we continue to explore genetic counseling around the world. 


What are some of the challenges you face practicing in Canada?

Healthcare in Canada is provincial and each province has their own set of guidelines regarding genetic testing and screening. This can raise issues when family members live in different provinces and are offered different options depending on where they live.

How many genetic counselors do you work with directly?

In Thunder Bay, there is 1 full-time GC (me) and one part-time genetics nurse. However, Thunder Bay is part of a group of 5 genetics programs in northern Ontario called the Northern Regional Genetics Program (NRGP). Through the NRGP I work with genetic counsellors and nurses via telephone and video conference to ensure patients in the north receive equitable care.

Are there enough genetic counselors to meet patient demand?

Genetic counselling has really exploded in the last few years and there are not enough genetic counsellors graduating to fill the demand. In Thunder Bay, we have had a full-time permanent position available for over a year.

Do you collaborate with genetic counselors who are not local?

The ability to collaborate with other genetic counsellors within Canada is integral to working in a small program like the one in Thunder Bay. In addition to liaising with my colleagues in Northern Ontario, I am able to connect with genetic counsellors around Canada through the CAGC listserve (an email group consisting of genetic counsellors throughout Canada). 

Are your/patient's resources limited?

Resources available in large cities are often not available in smaller northern towns. Patients either forgo testing or have to travel long distances to access healthcare. The genetics department does offer consultations via video conference; however, some appointments and tests require an in-person appointment. 

How did you become a genetic counselor?

I began my undergrad in biochemical toxicology; however, first-year chemistry persuaded me to consider other options. An introductory to genetics class intrigued me, but I knew I didn’t want to work in a lab. I found out about genetic counselling in my second year of university and it seemed the perfect combination of working in the field of genetics and but also with the public. 

Do you specialize in any subfield(s)?

The first several years of my career as a genetic counsellor I strictly worked in cancer genetics. However, given Thunder Bay’s small program, counsellors do not specialize as we all need to be able to work in all areas of genetics.

Do you serve on any committees/organizations?

I am currently the chair of the Certification Board, which grants Canadian certification to genetic counsellors. I am also a member of the social media committee (Twitter, Facebook, and website).  I have previously been the co-editor of the Crossover (newsletter for Canadian GCs published 3x a year) and a member of the Genetic Counselling awareness week (GCAW) committee. 


What are some of the challenges you face practicing in Canada? 

I think that our challenges are probably similar to those in other countries. We continue to try and raise awareness about the valuable work we do as genetic counsellors.

How many genetic counsellors do you work with directly?

I am fortunate to be part of a great team with 10 genetic counsellors and 4 geneticists.

Are there enough genetic counsellors to meet patient demand?

Genetic clinics are located in larger cities across Canada. In Toronto where I live and work, genetic counselling services are readily available at a number of hospitals and private clinics.  More rural areas of the country have fewer GCs, so patients may have to travel long distances to have counselling/testing.  Fortunately, there are well-established telemedicine services so that patients living in more remote areas can access counselling via video conference.  Even in the large cities, however, most genetics centres have long wait times for new patients.  There are currently only about 500 genetic counsellors in Canada for a population of over 36 million people!

Do you collaborate with genetic counsellors who are not local?

Yes.  The network of GCs in Canada is quite good.  There aren’t that many of us, so we all seem to know each other!

Are your/patient’s resources limited?

In Canada, we have provincial health insurance, and genetic counselling/testing services are covered.  Each province has their own criteria for what tests are covered/when, but the cost of a genetic test does not usually factor into a patient’s decision to access Genetics services.  If a patient wishes to have a test that is not covered by their provincial insurance, they can choose to pay for it.  As far as my resources, my one complaint is that there isn’t more financial support for attending conferences.

How did you become a genetic counsellor?

After graduating with a psychology undergrad degree, I worked as a research assistant in the psychosocial oncology program at a cancer centre.  One of the projects involved predictive genetic testing for children at risk for Familial Adenomatous Polyposis (FAP).  I was shocked to hear that such young children were going to receive these life-changing genetic test results, but was told, “Don’t worry, we’ll have genetic counsellors involved”.  This led me to learn more about what genetic counselling was, and I realized it was what I wanted to do.  I did my MSc at The University of Manchester in England, then moved back to Toronto work as a cancer GC.

What projects/research are you involved in?

I am a research coordinator for several cancer genetics related studies in our department.  Most recently, I am helping to recruit for a “liquid biopsy” study, which uses NIPT technology to look at tumor DNA in patients newly diagnosed with breast cancer.  There is a lot of potential for this testing so it is exciting to be a part of the research.

Do you specialize in any subfields?

My sub-speciality is cancer genetics.  I am the lead GC for our clinical cancer genetics program. 

Do you serve on any committees/organizations?

I am the co-chair of our hospital’s Bereavement Support Team.  This multidisciplinary group works to improve end-of-life and bereavement education for the hospital staff.  We also help to organize bi-annual memorial services for families who have had a loved one die at the hospital.  I became involved with the committee via the bereavement care we provide to patients who have had a genetic termination.  In addition, it has been a great opportunity to learn more about the new Canadian legislation for Medical Assistance in Dying (MAID).   I am also a member of the Canadian Association of Genetic Counsellors


What are some of the challenges you face practicing in Canada?

In Canada, healthcare is publically-funded but is the responsibility of each of our provinces and territories. This means that we essentially have 13 different programs.  Depending on which side of a provincial border a patient is born on they have access to different newborn screening and different genetic tests, which can be frustrating. Canadian GCs also have the unique challenge of living in an incredibly large country, with low population density as you get further from the Canada/USA border. It makes it hard to ensure equitable access to healthcare services for our patients and also makes it a challenge to stay connected as a GC community. We have one education conference per year through the Canadian Association of Genetic Counsellors, but GCs tend to only go when the conference is located close to home. 

How many genetic counselors do you work with directly ?

I work with probably a hundred Genetic Counsellors in my role with Care4Rare Canada. We are a pan-Canadian research study that has research ethics board approval at most Clinical Genetics sites across Canada. Our goal is to improve care for all rare disease patients in Canada, but our largest initiative aims to provide molecular diagnoses for undiagnosed Canadian patients.  We do this using multi’omic technologies (e.g., WES, WGS, RNA-Seq, and Metabolomics) and find a number of novel genes and mechanisms along the way.  This work gives me the opportunity to communicate with Genetic Counsellors in all provinces from a variety of roles (clinical, research, laboratory, industry etc.).  My job also allows me to work with dozens of international GCs through collaborations.

Are there enough genetic counselors to meet patient demand?

This is certainly not a problem that is unique to Canada. We all seem to struggle with long waitlists.  I have been inspired by some of the alternative models of care that are being developed and tested by Canadian GCs.  For example, group counselling has been pretty standard in Canada for a number of clinics for years and telemedicine has been used routinely in British Columbia for a while. I could name another three initiatives off the top of my head that are shifting and evaluating the model of genetic counselling care in Canada.

Do you collaborate with genetic counselors who are not local?

Yes, all the time. I love hearing about the unique patient populations seen by different groups. I think Canadian GCs are also uniquely challenged with knowing about a large number of ethnicities.  We have a rich and interesting multi-cultural history in which various pockets of individuals settled in different regions of the country. 

How did you become a genetic counselor?

When I was a kid I had this strange obsession with the nature vs nurture debate. It turned out that my high school biology teacher had studied with Kreb (of Kreb cycle fame) and she encouraged me to go into Biochemistry, which I pursued both an undergraduate and master’s degree in. I loved Biochemistry, but more than anything loved communicating about science and so Genetic Counselling and all of the opportunities to communicate with various groups seemed like the perfect fit. I was right. 

What projects/research you involved in?

Because I am a full-time research genetic counsellor I have the opportunity to work on a number of research studies. My salary is completely supported by grants. In addition to my work with Care4Rare, I actively contribute to the Matchmaker Exchange, PhenomeCentral, and am helping in the development of a research platform that will interact with RareConnect (a social media platform for families with rare diseases).

Do you specialize in any subfield(s)?

I dabble in all things ‘omics, but I have been particularly focused on whole-exome sequencing (WES) and its utility for rare disease patients.  

Do you serve on any committees/organizations?

I am currently chair of the scientific planning committee for the Canadian Association of Genetic Counsellors. I was also fortunate to be a member of both working groups for the Canadian College of Medical Geneticists tasked with writing the position statement on the application of genome-wide sequencing for rare disease patients in Canada.


Check out all other episodes of our Trailblazing Genetic Counselors series here.

Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email ellen@mygenecounsel.com!

Call for Cases: Errors in Genetic Test Ordering and Interpretation

We are collecting genetic counseling cases that highlight errors in ordering, counseling, and/or interpretation of genetic testing for peer-reviewed publication.  We are particularly interested in receiving cases from lab-based genetic counselors. 

Genetic Counselor Robin Schwartz Reflects On Career

How did you learn about the field of genetic counseling?

I learned about genetic counseling from my family physician, who had cared for our family for a long time.  He mentioned that there was a brand new field called ‘genetic counseling’, which was the first I’d heard of it.  I really liked genetics in high school and decided to investigate.  A neighbor of mine in New York was married to an MD/ Ph.D. geneticist at Columbia.  We met, we talked, and I became much more interested in genetics from the biology perspective.  I learned that Rutgers had a program in genetic counseling and they offered me the opportunity to have a teaching assistantship, so I was able to afford the program. 

 Robin (right) with a visiting friend, Karen, (left) in 1975 during Grad School at Rutgers Douglas College Biological Sciences Building

Robin (right) with a visiting friend, Karen, (left) in 1975 during Grad School at Rutgers Douglas College Biological Sciences Building

What was the Rutgers Program like at that time?

There were <10 people in my class, including Ed Kloza, and a diverse, incredible group of students.  Marian Rivas, Ph.D.  was the Director and Len Sciorra PhD. was the cytogeneticist, and they taught most of the classes.  I did my research in the laboratory of Francine Essien, Ph.D. – we also did bench work, at Rutgers, which was a great opportunity for me.  She was another one of my great female mentors.   We had some fantastic opportunities, including the chance to observe in Victor McKusick’s clinic at Johns Hopkins.  We also had rotations at the Woodbridge State School, which was a large facility for people with developmental disabilities. I saw my first patient with Lesch-Nyhan syndrome there and it was a profound experience for me.  Rutgers was then a 1-year program, and I then spent 6 months at Mount Sinai to get additional experience in the field.

Tell me about your first job.

I went to the University of Oregon’s Health Science Center as their very first genetic counselor in 1976.  There weren’t a lot of jobs available for genetic counselors, and I thought this would be an adventure to live out west.  I worked on a research study of eye disease, which included linkage studies on macular degeneration. I drove all over Oregon and collected blood, saliva, and urine for this study, often at scheduled family reunions.  I stayed in Oregon for a few years and then came back to the East coast, and eventually ended up at Columbia Presbyterian, where I worked in pediatrics.  A few years later I worked in a research lab doing gene mapping at Rutgers and then moved to Connecticut to work in another research laboratory before taking some time off to have children.  When I returned to genetic counseling it was in clinical work at the University of Connecticut, where I served for 31 years!

How has the role of the genetic counselor evolved?

The profession has changed alongside the increasing knowledge about genetics; so, we have a much deeper understanding of genetics across the lifespan in many areas of medicine.  The technology has evolved, and the ability to apply knowledge from all of these areas has too, and the genetic counselor can use all of that information.  Genetic counselors are leaders and innovators in many areas of medicine because of this.  The opportunities for genetic counselors have continued to expand because genetic counselors have identified new areas of need, and have the motivation and skills to more than fill those needs. The expectations of students have also changed; they now feel there are limitless opportunities because of their role models. 

What advice do you have for new graduates? 

Being a person who is dedicated and curious is key to a career in genetic counseling.  In this field, there are so many new things to continue to learn, embrace and understand – you need to be the kind of person who desires that kind of career path.  You need to be comfortable and confident in embracing change, knowing that this will require more work, more passion, and more understanding.  You must be willing to be lifelong learners.

What is your next act?

I’ve been asked to be a part of the BayPath Genetic Counseling program.  I’m very excited about this program and what it can offer to people all across the country.  I also plan to keep advocating for the profession of genetic counseling. 

In addition, I am continuing to be active in local politics. I think that just as we are advocates for our patients in our professional roles, it is important to do that in our personal lives in our communities.

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What else would you like to add?

In addition to having the privilege of providing patient care, I became involved in leading the efforts for licensure in Connecticut. I had not envisioned that role for me decades ago but it became clear that this was a mission to pursue. I was fortunate to work with Robert Greenstein, M.D. whose mantra was that ‘Being in the clinic isn’t enough’.  He believed you had to speak out for patients on their behalf, and that every single conversation was an opportunity for education and to develop an ally for your patient.  Knowing Bob Greenstein motivated me over the years to get involved, locally.  It is my way of being involved in public service.  One of the most rewarding things in my career has been to work with legislators as an advocate for laws that benefited the public with respect to genetic conditions, like expanding coverage for food and formula for patients with metabolic conditions, and genetic counseling licensure in the State of Connecticut. 

Advice for Girls Considering STEM Careers

I’m an eighteen-year-old female.

I’m a freshman in college, studying chemistry and playing basketball.

I have always been very involved in school, in high school, I was a member of student council, I was captain on the basketball team, and a member of the youth group at my church; but throughout all of this, I remained a straight-A student. I love to learn and in school, I found a passion. Science, for me, is a passion. This passion started in tenth grade, with New York regents chemistry. For the rest of the class, it was a dreaded class, one where the tests were impossible and it was ‘just another math class’. But, for me, it was exciting; the way each concept fits with another, ultimately to explain our entire world. Don’t get me wrong, it was challenging, but the challenge was fun! From there, I continued with science, taking AP chemistry my senior year and now, it being my major. For the most part, my science journey has been enjoyable, but not always easy. If I could sit down with a younger version of myself, there are a couple of things I would tell her that I’ve learned along the way.

 Kara's Science Honors group working on their project

Kara's Science Honors group working on their project

First, be efficient with your time. In college, I’ve had friends who sit down and study for six or eight hours at a time (usually during the middle of the night!), which yes, I am going to tell you again, is not productive. I’ve learned best by sitting down, cranking through the material in one or two hours. Of course, in order to do this, you must put your phone, computer and any other distractions in another room! It does not matter how much time you put into something, but how productive you are in the time that you put in.

 

 

 

 Kara with her Science Honors group members

Kara with her Science Honors group members

Second, people tend to think that males are stronger in the science field because they are more math/science thinkers; but, our world is slowly picking up the mindset that science is a field for anyone, females can do science too. Just stay with it. There are SO many opportunities for females as well. At Houghton College, I am also involved in Science Honors, which is a first-year program for selected science majors. Last February, I interviewed for a position in this program and I was accepted to take 1 of 24 spots; so I did. Within this honors program, 9 of the 24 students are female and are split evenly among groups, so roughly half of each group is female. This reflects the increasing opportunities within science for females. The hands-on project we are working to solve is measuring biodiversity in the Sonoran Desert with a robot. Throughout the fall semester, we were paired with groups, where we combined ideas to make a prototype of the robot we would like to design. During this current spring semester, we are learning to code, design, wire, run and troubleshoot with our robots before we head out to the Sonoran Desert, this May, to deploy our robots and hopefully collect data pertaining to the biodiversity of the Sonoran Desert. This is one area of my science career where I’ve seen females making a big impact in the science world, as well as on my first visit to Houghton College and meeting the head of the Chemistry department, who is a female. She was immediately intrigued by my interest in the research side of chemistry. The support I have received for my draw to science is renewing and I think it is important to forward this support to others and welcome females to the science world in the same way that they have welcomed me!

 Kara with Houghton College's head of the Chemistry department,&nbsp;Karen Torraca

Kara with Houghton College's head of the Chemistry department, Karen Torraca

 A girl in Kara's group with the programming for their robot's motor

A girl in Kara's group with the programming for their robot's motor

Third, it’s not always going to be fun and easy; nothing worth doing is ALWAYS going to be fun and easy. Because I am only a college freshman, I have limited experiences to talk about. But, this is something that I’ve learned along the way and feel it can apply to almost every aspect of life. Whatever you end up doing, of course, it’s everyone’s dream to do something that they love. You are going to love doing it, but that does not mean that it will always be enjoyable. Often times, when someone asks about my major and I respond that it is chemistry, people look at me with wide eyes and say, “Oh…”. Science is not for everyone, but with perseverance and determination to do what you love, regardless of what anyone says, you can be successful. With anything that you love, there will be times of frustration and disappointment, but these feelings come from the love and passion about what you are doing. So, if you fail once or twice or even ten times, pick yourself back up and keep pushing through. I’ve learned that sometimes you just have to get through the difficult times, to discover the reason you started.

~Kara Cusker

 Kara at the board with the coding work for their robots

Kara at the board with the coding work for their robots

Trailblazing Genetic Counselors: Episode 15

This is the fiftteenth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ (NSGC) website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 475 professionals in the field, all in one stream.

In this episode, we interview international genetic counselors to gain insight on the experience of genetic counselors around the world. 


 Andrea Herencia

Andrea Herencia

My name is Andrea Herencia, and I am a Spanish geneticist from the Spanish Society of Medical Oncology (SEOM). I received my B.Sc in Genetics at Autonomous University of Barcelona (UAB), and my M.Sc in Clinical Analysis Laboratory at Pompeu Fabra University (UPF).

 

How did you become a genetic counselor? 

I always knew I wanted to dedicate my life to bioscience, to explain why living beings are the way they are, and answer those questions that someday could save people’s lives. When I started high school and I first studied Mendel and his peas, I realized that genetics was the origin of all those ways of being, the solution to all of those questions: genetics was the origin of everything.

From that point, I started to dive deeper into genetics by myself beyond the high school and I participated in the Science Fair of my town demonstrating Mendelian genetics with mice. After that, I decided to move to Barcelona to do my Bachelor of Science with a genetics major. During my first year of study, some people I love were diagnosed with breast cancer and were referred to a genetic counsellor. The suffering it brought to me and my family made me reconsider my future as a scientist. I wanted to study genetics, but also be with patients -- could I find a job where genetics and patient care were combined? A job where you help people with genetic disorders? There was one, and I wanted that job: I wanted to be a Genetic Counsellor.

So, unlike most of my classmates, I finished my B.Sc with the dream of becoming a genetic counsellor. Besides genetics, I wanted to have clinical laboratory skills.  So after the degree, I started my Master Degree in Clinical Analysis Laboratory, meaning I could perform both the consultation consultation and the genetic tests or analysis.

I volunteered at Catalan Institute of Oncology (ICO, Barcelona), which is one of the most important centers in Spain regarding genetic counselling, and then, at the genetic counselling unit in Hospital del Mar (Barcelona). During these voluntary services, I had my first experience with families and I learned how to perform a consultation, treat families, transmit information and, in conclusion, about genetic counselling, and this is how I made my dream come true. An old professor and a current good friend of mine once quoted the great Chinese philosopher Confucius and told me: “Choose a job you love, and you will never have to work a day in your life”, and I have chosen mine.

 

Do you specialize in any subfield(s)?

During the degree, I studied the genetics of many different diseases, but the one I have seen the most is cancer. During my genetic counselling work experience I was under the supervision of Dr. Servitja, the oncologist that first gave me the opportunity to start my career, so we worked mainly in cancer. I believe it is amazing how a genetic counsellor can help people who feel that everything is lost after their diagnosis see that it is not, and explain that they are not responsible for the mutation in their family. Seeing how they recover their smile and hope is priceless. 

 

How many genetic counselors do you directly work with? 

Although our unit is not very big, we have all the professionals we need. I work with a gastroenterologist in consultations related to digestive cancers, and with an oncologist in the rest; in all of the consultations there is a nurse specialized in genetics, and we have a psycho-oncologist in the center as well. Furthermore, we are always in contact with doctors from many other fields in case we need their help, so I think we have a very diverse and, at the same time, complete group!

 

Do you collaborate with genetic counselors who are not local? 

Unfortunately, I do not collaborate with any genetic counselor who is not local since as our unit is not very big. What we have in many cases, are foreign patients from all over the world, so sometimes the consultation has to be performed in English. However, I have to say that it would be a pleasure learning from non-local professionals: seeing how they work and share experiences would be unforgettable and, for sure, applicable to our consultations. I do not discard the possibility of someday work abroad and, in fact, it is a challenge that I want to take if I have the opportunity.

Nevertheless, we share information with genetic counsellors from other countries, and nowadays with social media, that’s a very easy task! The #gcchat conversation is an incredibly well-established way to share information, experiences and everything we know about genetic counselling, that’s why I decided to create my own account, @andrea_herencia.

 

Do you serve on any committees/organizations?

I am currently a member of the Spanish Society of Medical Oncology (SEOM), an organization that contributes to the formation, information, and support of oncologic patients and their environment; I am a member of the Catalan Society of Biology as well.  

 

What projects/research are you involved in? 

During my years of formation, I researched in several centers; my first experience as a researcher was at CABIMER (Andalusian Centre of Molecular Biology and Regenerative Medicine), studying the molecular mechanisms that give rise to the Leber Congenital Amaurosis, an eye disorder that primarily affects the retina, causing severe visual impairment beginning in infancy. I discovered a new world out of the theory and books from university, I met awesome people who taught me different techniques and protocols, and I learned how to work in a real laboratory.

I decided to move to Canada to finish my B.Sc in British Columbia and had the opportunity to study in a Canadian university; I took many courses that did not exist in Spain, and I learned much from this country, it was amazing, I love Canadian people! Besides that, I took a psycho-oncology course as well in order to have a better understanding of patients’ situations and give a deeper service, which was very useful. 

After that, I did a stay at IRB (Institute for Research in Biomedicine) to perform my thesis on mental disabilities caused by mutations in the ADAT gene at the Gene Translation Laboratory. Finally, I was researching at Généthon (Evry, France), a center fully dedicated to the design and development of gene therapy treatments for rare diseases. This was a huge step for me since I started studying molecular mechanisms of diseases and finished looking for treatments.

 

What are some of the challenges you face practicing in Spain? Are there enough genetic counselors to meet patient demand? 

The main problem we have in Spain regarding genetic counseling is the lack of awareness of the services we offer not only among Spanish population but also among other healthcare professionals, which I think is a common problem around the world. I believe that this situation is caused because there is not a specialization or a postgraduate course in Spain to become a genetic counselor. This is the reason why Spain does not have enough genetic counselors to meet patient demand. However, our country is trying to establish a genetic counseling postgraduate program, as well as a genetic unit in every hospital. With a growing number of campaigns, genetic counselling is becoming more important since the population is realizing the advantages it could provide.

 

Are your/patient's resources limited? 

In Spain we have the great advantage that the cost of genetic counselling is covered by our National Health Insurance in every case. The limitation is that there are Spanish cities without any genetic counsellor and this, together with the growing demand, gives rise to the gap, previously mentioned. It has been calculated that we need at least twice the number of genetic counsellors we have nowadays to meet patients demand.


 Sonia Margarit

Sonia Margarit

What are some of the challenges you face practicing in Chile?

One of my biggest challenges practicing in Chile, as is similar for many other genetic counselors throughout the world, is recognition and awareness of our value by healthcare institutions, providers, and patients. With a lack of acknowledgement and understanding of what role genetic counselors play in a patients’ care comes a lack of resources for us within the public healthcare system for genetic testing.

 

How many genetic counselors do you work with?

I am the only genetic counselor in Santiago. I work with two geneticists and MDs specifically from oncology, and there are just a few nurses who obtain training through certificate courses in hereditary cancer. However, as far as I am aware, I am the only genetic counselor board certified from the USA in all of Chile.

 

Are there enough genetic counselors to meet patient demand?

No. Since there are no other genetic counselors there is a huge gap. Mainly geneticists, laboratory researchers and MDs with knowledge in genetics provide genetic counseling to affected individuals.  It is rare to find non-MD providers with training in genetic counseling. Our goal at the University is to develop a postgraduate diploma course in genetic counseling for health care providers from different specialties in order to fill in the lack of genetic counselors.

 

Do you collaborate with other genetic counselors who are not local?

Yes, it´s essential to collaborate with genetic counsellors from the US as well as geneticists throughout South America and other countries.  I work on a daily basis with two geneticists at the Center of Genetics and Genomics of Clinica Alemana Universidad del Desarrollo. The Director of the Center is Dr. Gabriela Repetto and our main focus is to develop liaisons with other South American countries and International societies in order to progress the genetic counselor community.

 

Are your/patients resources limited?

Yes. As a genetic counsellor, my resources are limited due to the lack of literature that is available in Spanish, and although I can comprehend English it is double the time and work to translate everything from English into Spanish, not only for patients but colleagues as well. Patients rely strictly on information given by either their doctor or myself; so, even though it’s sufficient, if they try to do research on their own they can run into a language barrier as well.

 

How did you become a Genetic Counselor?

I always liked science and helping people.  My first degree is from Argentina working as a teacher in Biology.  For personal reasons, I moved to New York, and while working in the Cell Biology lab at Mt. Sinai I learned about genetic counseling and found it amazing. To be able to help people and provide genetics information- what more can I ask for?

 

What projects/research are you involved in?

Currently, I work in providing courses in genetic counseling, which I have been providing since 2013. My hope is to develop a diploma course in genetic counseling for 2019.  My aim is to provide this certificate course in a mixed format, 7 months online and a one-week in-person workshop of genetic counseling for health care providers from all of South America. Building a community of genetic counselors in South America is my number one priority.

 

Do you specialize in any subfield(s)?

Since I’ve been in Chile my specialty has been in hereditary cancer, although I do adult genetic counseling for neurodegenerative disorders such as Huntington’s and occasionally I do pediatric genetic counseling.  Back in the states, I was focused on prenatal genetic counseling, however in Chile only recently has abortion been approved for lethal conditions. Before 2017 it was penalized by law regardless of circumstance, so prenatal genetic counseling does not yet exist here.

 

Do you serve on any committees/organizations?

I serve on the Chilean Genetics Society, which is involved in developing national guidelines for genetics and genetic counseling in the public healthcare sector. I provide genetic counseling to DEBRA Chile and belong to the Huntington Group of Chile as well.


Check out all other episodes of our Trailblazing Genetic Counselors series here.

Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email ellen@mygenecounsel.com!

Rare Disease Day 2018

Rare Disease Day is an opportunity to raise awareness for 7,000+ rare diseases and the 30 million Americans who are affected by a rare disease(s). The theme for this year's Rare Disease Day is "Research" and the important role that patients play in gaining an understanding of rare diseases and developing innovative treatments or cures. This year's slogan is "Patients are not only subjects but also proactive actors in research."

We attended both of the Connecticut Rare Disease Events, one in North Haven at Quinnipiac University and the other in Hartford at the Legislation Office Building. Check out our recaps below!

2018 Rare Disease Day at Quinnipiac University Center for Medicine, Nursing and Health Sciences

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It was a pleasure to attend Rare Disease Day at Quinnipiac University Center for Medicine, Nursing and Health Sciences, which was student-organized and run!

I was a keynote speaker, along with Dmitry Kravtsov, MD of Vanessa Research.  Dr. Kravtsov studies a rare pediatric disease called microvillus inclusion disease (MVID) that presents with severe diarrhea.  He is now part of a team that is developing novel medications for this condition.  

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Marsha Lanes of NORD was the moderator of a patient panel that included parents who had children with Maple Syrup Urine Disease and Dravet Syndrome.  A daughter with progressive vision loss and her mom were also part of the panel, along with adults with Cyclic Vomiting Syndrome and Miyoshi Myopathy, an adult form of muscular dystrophy.  The panelists gave the young clinicians in the audience several pearls of wisdom:

  • Listen to your patients and their parents.  Really listen.
  • If you don’t know what is going on, say so.  Don’t pretend you know.
  • Having a rare disease is scary for patients and their families, and they feel isolated and alone.  Understand that.  
  • Having a rare disease is often a stressful diagnostic journey.  Try to put yourselves in your patient's shoes. Be as supportive as possible.  Connect that patient with other patients, and resources.  

Thank you for sharing your stories!

Ellen Matloff, CEO and President of My Gene Counsel

2018 Rare Disease Day in Hartford, CT

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The annual Rare Disease Day event in the Legislative Office Building in Hartford, CT was held on Rare Disease Day itself, February 28th. The event provides an opportunity for patients, caregivers, medical professionals and industry representatives to come together and educate elected officials about rare diseases, and what it’s like to live with or care for someone with a rare disease in the state.

A main focus of the event was newborn screening, including the addition of Pompe Disease and Mucopolysaccharidosis Type 1 (MPS1) for Connecticut. Connecticut covers over 60 diseases, while most other states only cover ~40 diseases.  

Researchers shared how vital funding is to their research and the cascade effect initial funding can have. Stormy Chamberlain, PhD, a researcher at UCONN who focuses on Angelman Syndrome, explained how the Connecticut Stem Cell Research Fund led to NIH funding and partnerships with pharmaceutical companies such as Alexion. Presenting alongside her was Jim K, a father of a child who has Angelman Syndrome. As a fierce patient advocate, he joined the Angelman Syndrome Foundation to help raise some of this research money. He also shared some aspects of being the father of a child with a rare disease, including the burden of expensive seizure medication, full-time supervision of his son, and fighting for basic needs for his son at school. 

There was also a family with a daughter who has Dravet Syndrome. Beth Fox shared about her daughter's 250 unconscious seizures, despite trying multiple different medications, and their battles with her insurance company for coverage. In a cute moment, her daughter joined her at the podium, excited to introduce herself. 

Senators and Representatives also spoke about their support for rare diseases including the Connecticut Rare Disease Task Force. This bipartisan group focuses on newborn screening, insurance issues, support services in school systems among other topics. 

Kira Dineen, Communications Lead of My Gene Counsel

Advice for Interviewing/Ranking Genetic Counseling Grad Schools

The second stage of the genetic counseling graduate school application process is the interviews. Programs invite selected to visit the campus and interview with the faculty. Remember: this is an interview for the program as much as it is for the applicant. In a new program rolling out in March 2018, applicants and programs will rank each other and then be matched, much like the system used for medical students to match to residency programs.

Interview invitations are typically sent between late January and mid-March, with interviews scheduled until mid-April when the 'rank order' list is due. Applicants are then notified on a Universal Notification Day in late-April, this year it's April 27th, 2018 at noon ET!

To help applicants prepare for their interviews we asked the genetic counseling community what advice they had for applicants. We also asked what factors genetic counselors considered when choosing a program, which students can utilize when ultimately ranking their own schools.  

What Questions Counselors Remember From Their Interviews...

What Clunkers Counselors Remember From Their Interviews....

Why Gentic Counselors Chose Their Schools..

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"Because I was in my mid-30s with a family, it was all about cost. That being said, I know I got a very high-quality education. I said yes to a scholarship...but it ended up being so much more than that."

~Matt Tschirgi, MS, LCGC, Medical Science Liaison at Progenity, Inc.

 

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"Geography was most important to me, so I only applied to Wayne State, U of M, and U of T (Toronto). Only interviewed at two and only got one offer, so the choice was obvious— but happily, it was also my first choice (WSU)!" 

~Melissa A. Hicks, MS, CGC, Certified Genetic Counselor at DMC University Laboratories 

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"I'm a Canadian and spots at schools in Canada are few and competition is worse than medical school, so I wrote the GRE and applied to US-based schools. I chose ones with informative, up to date websites, larger class sizes, and a history of accepting Canadians and international students in the previous 2-3 years. I also narrowed down by location, wanting to stay relatively close to Toronto, where my family was and where I lived before school. I ended up at the program through Northwestern in Chicago and really enjoyed it. It was my first round of applications outside Canada - the first round was thrown together since I learned of the program at Christmas the year prior and only sent to UBC and UofT, more as a learning experience than with any real hope of getting in. I only had the one offer, but I would have attended any of the programs I interviewed at. I'm not sure how I would have ranked them if I had to indicate that ahead of time (well, other than Toronto first due to location and cost)."

~Erica Pai, MS, LCGC, CCGC, Genetic Counselor at CooperGenomics

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"I had no idea that it was common to apply to multiple schools, so I only applied to two because they were geographically closest. I was only accepted to one so it made the decision easy! Like Melissa, I was lucky that my only offer was from my top pick. Now, I encourage applicants to learn what makes each program unique and decide whether that fits with their goals and interests. For example, if they have a particular interest in lab counseling, be sure to apply to places that have lab rotations."

~Rachel Mills, Genetic Counselor Consult at PWNHealth and Associate Researcher at Duke University Medical Center

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"I chose my school because it was well-established, I loved the faculty I met, and I got the sense that I would be job ready by graduation. On the flip-side, I turned down an acceptance from another school even though they offered a generous scholarship. It was because the current students said a lot of negative things about the program during their interviews."

~Kara Bui, Genetic Counselor at Greenville Hospital System Cancer Institute and Caris Life Sciences

Are you earlier in the application process? Check our previous blog, Applying to Genetic Counseling Programs where over 15 genetic counselors including program directors share their words of wisdom on how to gain genetic counseling experience and piece together a strong application. 

Regardless of your application status, we suggest reading our Trailblazing Genetic Counselors blog series to learn about the leaders in our field. Also, check out our Genetic Counseling Twitter list of over 500 professionals in the field who are also active on Twitter. 

National Organ Donor Day: Why Our CEO is Passionate about Organ Donation

 Photo Credit:&nbsp; donors1.org

Photo Credit: donors1.org

Our CEO, Ellen Matloff, is passionate about National Organ Donor Day.  Why?  Because without donors, she would have never met her husband. Mike is the grateful recipient of a kidney transplant.  Read Mike’s story of receiving an organ donation and his thoughts about donors.


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Ellen:  Thank you for sharing your story, Honey.  What is your motivation for sharing something so private?

Mike:  Currently, there are over 80,000 people waiting for a kidney transplant.  The need for information about this crisis, and what can be done from both the donor and recipient perspectives is critical.  I hope that my story will help those going through this process to understand the journey that lies ahead for them.

 

Ellen:  When/how did you first learn that something was wrong with your kidneys?

Mike:  In 1985, right before I started college, I developed a kidney infection.  After the infection was treated, I had a test called an intravenous pyelogram (IVP) examination, which showed that I had a small left kidney.  The test could not find my right kidney, although a later ultrasound discovered it.

 

Ellen:  Did you know at that time that you would someday need a kidney transplant?

Mike:  No, I understood then that I was born with different kidneys, but it wasn't until the early 1990s, after a routine blood test showed that my creatinine level was high, that I first started treating with a nephrologist.  It became readily apparent that my kidneys were gradually failing, for no known reason and I would someday need a transplant.

 

Ellen:  And then quite a bit of time passed, correct?

Mike:  Yes.  I first began treating with a nephrologist in around 1993.  My kidney transplant was in May of 2012.  I remember early on my nephrologist doing a quick calculation of when he thought I'd need a transplant.  He predicted I would need one in my mid 40s and he was right!

 

Ellen:  How did your health change in this period of time and how did you know you were growing closer to kidney failure?

Mike:  I was mostly asymptomatic until several months before my transplant.  Kidney disease is tracked in stages, Stage 1 being mild kidney disease, and Stage 5 being the worst, known as "end stage renal disease."  I was diagnosed with Stage 5 in November of 2010.  In late 2011, my blood pressure became unmanageable, I had recurrent gout, I suffered nightly excruciating leg cramps, I was tired all the time, and worst of all, in February 2012 I developed a near lethal level of potassium in my bloodstream.  

 We surprised Kathy, and everyone else, by calling her up to break the glass with us at the end of our ceremony. &nbsp;We were acutely aware that without Kathy's gift, none of us would be standing there that day.

We surprised Kathy, and everyone else, by calling her up to break the glass with us at the end of our ceremony.  We were acutely aware that without Kathy's gift, none of us would be standing there that day.

 

Ellen:  Your sister Kathy decided to give you one of her kidneys and was a perfect match.  How did you learn of this news?

Mike:  I began treating with the Yale New Haven Hospital Transplantation Center in November of 2008 when I was diagnosed with Stage 4 kidney disease.  At that time, Yale asked me about potential donors.  I discussed it with my family at Christmas that year and my sister immediately offered to be tested, which she was a couple of months later.  Then I learned that she was a match, but it wasn't until we went through the process again in early 2012 that I learned that not only was she a match, but that she was a perfect match.  Perfect matches occur in identical twins, but are otherwise pretty rare.

 

Ellen:  The time leading up to the transplant was a difficult time for you, physically and emotionally.  How did you feel after the transplant, physically and emotionally?

Mike:  You never realize how sick you are until you are healthy.  I remember my first night's sleep after the transplant and waking up the next day without once having a leg cramp during the night.  And I was able to eat anything I wanted!  People who have kidney disease are usually on very restricted diets, and being told by the dietician at the hospital that I should eat a lot of protein was incredible!  I felt so much better - physically I had more energy and my body returned to normal very quickly.  Emotionally I was drained, but so thankful that the dread of kidney disease was behind me, and that my sister and I were well.

 

Ellen:  For what are you most grateful?

Mike:  I'm grateful for so many people - my friends and family, my work colleagues, the incredible staff at Yale.  I'm incredibly grateful for the doctors and scientists of the past, who soldiered through the medical and ethical hurdles inherent in the transplant process to give us this incredible, near magical modern procedure.  But I'm most grateful for my sister Kathy, who gave me the gift of life.  She never once hesitated, and she was there for me when I needed her - before, during, and after the transplant.  Because of her, I was able to have the transplant without ever going on dialysis.  Because of her, I had a short, relatively easy recovery.  And because of her, I am today completely healthy.  My sister and I have always been close, but the bond that we share as donor and recipient seems to transcend our other relationships.

 

Ellen:  Thousands of people will read this article.  Some may be considering becoming universal donors, or even of becoming a living donor.  What would you like to say to those people?

Mike:  I'd say do it!  For those considering being a living donor, I can tell you that the surgery to remove a kidney is done by laparoscopy and is very low risk.  My sister was up and walking the day after her surgery, and discharged from the hospital three days later.  Today she is completely healthy.  For those considering becoming universal donors, I'll note that while we need our organs in this world, we won't need them in the next.  I can't tell you how happy I was to learn that I can still be an organ donor after my transplant.  In fact, my new kidney could be donated.  A simple decision to share the gift of life, now or later, will be one of the best decisions you ever make.


Want to learn more about becoming an organ donor? Check out OrganDonor.gov for statistics, stories and a sign up!

Sexuality Clinics - Vaginal Dryness and Pain During Sex

 Photo credit:  The Digital Muse

Photo credit: The Digital Muse

In keeping with our Valentine’s Day theme, we are focusing on sexuality in cancer survivors and previvors. Did you know that there are specialists in this area who can help you (and your partner) to get back in the groove? Here are some tips on vaginal dryness from Sharon Bober, PhD,  Director of the Sexual Health Program at Dana Farber Cancer Institute in Boston, MA.

 

Vaginal dryness and Painful Sex:

Vaginal dryness and irritation are common problems can that lead to painful sexual activity and general discomfort. Certainly, when sex hurts, it is no surprise that interest in sexual activity often diminishes. In order to maintain good vaginal health, vaginal dryness can be addressed by use of vaginal moisturizers and vaginal lubricants. Moisturizers, such as Hyalo-Gyn or Replens, provide a smooth layer of moisture that adheres to the vaginal tissue and draws water into the tissue. Like moisturizers used for the face or hands, vaginal moisturizers are meant to be used on a regular basis; typically two or three times per week. In addition to inserting the moisturizer internally, it is important to remember to also massage a small amount of moisturizer around the opening of the vagina.  Most women insert vaginal moisturizer before lying down at night; this will allow for optimal absorption.  In terms of making sexual activity more comfortable, women can use a vaginal lubricant to provide a temporary protective coating on the skin and reduce friction during sexual activity. Water-based or silicone- based lubricants without perfumes or other irritants such as Liquid Silk or Slippery Stuff are best. Stay away from glycerin-based lubricants which can act as a sugar and promote yeast infections in some women as well as petroleum-based lubricants.

After cancer, it is important to take the time to re-connect with your body and figure out what feels pleasurable and what doesn’t. It is not uncommon to find that some types of touch or sexual activity that was pleasurable before may be different now.  Some women find that starting with either self-touch or exploring with a vibrator can be a helpful first step for discovering what feels good on the journey to reconnecting with sex. Getting blood flowing and nerves firing is also great exercise for the genital tissue and helpful for maintaining good vaginal health.

Other tips for dealing with painful sex:

  • Plan ahead for the time of day when pain is lowest and you have more energy.
  • Change your position! Try different positions that may be more comfortable.
  • If you are using pain meds, take them about an hour prior sexual activity.

Hear more tips in our podcast interview with Dr. Bober.

Trailblazing Genetic Counselors: Episode 14

This is the fourteenth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ (NSGC) website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 460 professionals in the field, all in one stream.

In this episode, we interview international genetic counselors to gain insight on the experience of genetic counselors around the world. 


  Juliana Lee , FHGSA (GC)  @julianamhlee  Consultant Genetic Counselor

Juliana Lee, FHGSA (GC)
@julianamhlee
Consultant Genetic Counselor

What are some of the challenges you face practicing in Malaysia? 

  1. Lack of awareness of genetic counselors' role
    • When I first started practicing in 2004, many healthcare professionals questioned the role of genetic counselors.

    • There were misconceptions that we are using genetic technology to advocate termination of pregnancies especially when the fetus is found to be affected with a genetic disorder.

    • In 2014, the importance of genetic counseling significantly improved, especially among private laboratories and molecular diagnostics companies (start-ups) offering NIPT and panel cancer testing. However, there were limited genetic counselors that were keen to pursue private practice.

  2. Limited career path in public health setting
    • No formal positions for genetic counselors were created in public service despite efforts by clinical genetics professionals to convince government authorities of its importance.

    • Practicing genetic counselors in public health are employed as scientific officers, counselors, and nurses, and not as genetic counselors.

  3. Unequal access to the latest genetic testing 
    • Genetic testing is important to confirm a diagnosis. Some tests are available locally, but most tests are sent to overseas laboratories. Funding to cover the cost of testing is limited. Patients generally have to pay out of pocket.

    • Most genetic services are based at tertiary hospitals, public hospitals, and a cancer research center. Although private healthcare has better access to the latest genetic testing as opposed to public health, they lack genetic professionals in the private hospitals and genetic tests are ordered by doctors not formally trained in genetic counseling or clinical genetics.

How many genetic counselors do you directly work with? 

I work closely with genetic counselors and clinical geneticists when we managed clincial cases together. I also liaise with genetic counselors from overseas laboratories where genetic tests are performed. Despite the current demand for genetic counselors, there is a limited number of certified genetic counselors in Southeast Asia. I am keen to expand my team in the future and create jobs for local genetic counselors interested in working in private genetic counseling ­practices.

Are there enough genetic counselors to meet patient demand? 

No, at present there are only two certified genetic counselors in Malaysia. Three other genetic counselors were trained overseas and have returned to practice in Malaysia since 2014. In total, there are only five genetic counselors in Malaysia for a population of 32 million. One genetic counselor per 6.4 million people.

Do you collaborate with genetic counselors who are not local?

Yes, when there are cases referred for foreigners living in Malaysia that requires genetic testing or requests by family members that require genetic counseling services in their home country, or vice versa. Most genetic counselors I liaise with are from laboratories overseas that performed the genetic tests ordered. Also, when planning for genetic training programs or conferences, we would invite international genetic professionals as speakers.

Are your/patient's resources limited? 

Yes, it is limited especially for local languages. This limitation has improved since 2004 after we helped establish Malaysian Rare Disorders Society (MRDS), the first national patient support group for genetic disorders in Malaysia. MRDS has produced leaflets on ten rare disorders in English and published a book comprised of experiences of patients affected with rare genetic conditions. Currently, with 7,000 rare disorders, we still have limited printed resources and will usually provide them based on requests. They are usually sourced from the internet or shared using resources from other international genetic support groups. Future needs include translation of genetic resources into Malay, Chinese, and Tamil to meet the needs of a multi-lingual society. MRDS Facebook page is a portal for public inquiries and its website, a source of information on rare disorders in Malaysia.

How did you become a genetic counselor? 

Many graduates from Bachelors of Genetics programs usually work in sales for multinational pharmaceutical companies. That was my initial plan until I learned about genetic counseling in my final year. I was really excited that there is a profession that bridges science and people and most importantly makes an impact in their lives. I began my search on the internet about genetic counselors and how to become one.  I compared training programs in the US, UK, and Australia. In 2002, after completing my Bachelors, I traveled for six months and in between that I visited University of Melbourne and spoke to Ms Margaret Sahhar, Program Director for the Graduate Program in Genetic Counseling. Several months later, I decided to apply for the program and began preparing for my application. In the final interview, the program committee suggested that I meet with Professor MK Thong, a clinical geneticist from Malaysia who had just completed a certification in Clinical Genetics in Australia. My main reason was to inquire about future job prospects as a genetic counselor in Malaysia. I managed to meet up with Professor Thong and he encouraged me to come back to Malaysia after my studies. In November 2002, I got accepted into the University of Melbourne's program. I was really happy and excited, but at the same time I found out that my mother was diagnosed with cervical cancer. I wanted to defer my plans and it was a difficult decision to make, but she knew that I was very passionate about genetic counseling and encouraged me to continue my plans to help more people affected by cancer. I was by her side until she recovered from surgery and I then departed for Melbourne. As the first international student from Asia to be accepted into the program, I gathered as much experience as possible from clinical genetic services and the genetic patient organization, Genetic Support Network of Victoria (GSNV). I was also fortunate to have attended clinical observation for a week in Montreal with the assistance of Margaret Sahhar and Jennifer Fitzpatrick, Program Director of MSc in Genetic Counselling at McGill University. Returning home to Kuala Lumpur, I began practice in genetic counseling in April 2004 at University Malaya Medical Centre. For two years I was employed as a counselor and later as a Medical Social Worker providing genetic counseling. With the supervision from Professor MK Thong and Mr Sidek Miko, Head of Medical Social Work Department, I obtained my certification from HGSA and became the first Malaysian to be certified in genetic counseling.

In what projects/research are involved? 

As part of the initiatives of the Professional Society of Genetic Counselors in Asia (PSGCA), we are currently evaluating the role genetic counselors working in various countries across Asia. Apart from my interest in reproductive medicine, I am keen to conduct future research on cultural and religious influences among Asian society affected with genetic conditions.

Do you specialize in any subfield(s)?

I specialize in pediatric genetics, reproductive genetics, and cancer genetics.

Do you serve on any committees/organizations?

I founded my private practice in 2015, where I provide genetic counseling direct to patients (or clients), clinician support, manage inquiries, conduct training and consultancy through Genetic Counselling Asia (GCA). Beginning in 2018, I have expanded my services to other countries that include Singapore, Vietnam and Indonesia. Since 2015, I am serving as Vice President for the Professional Society of Genetic Counselors in Asia (PSGCA),  comprised of genetic counselors working in Asia or originally from Asia. Since 2004, I continue to volunteer with MRDS and presently managing inquiries related to rare disorders on MRDS Facebook page


  Mona Saleh &nbsp;BSc FHGSA (GC) PhD  @DNAdownunder  Senior Genetic Counselor and Program Leader at  Centre for Genetics Education

Mona Saleh BSc FHGSA (GC) PhD
@DNAdownunder
Senior Genetic Counselor and Program Leader at Centre for Genetics Education

What are some of the challenges you face practicing in Australia? 

I don’t feel there are any real challenges with practicing in Australia. Being a dynamic and growing profession, genetic counseling is still evolving "Down Under" and it is an exciting time to be in the profession. 

How many genetic counselors do you directly work with? 

I have no direct involvement with any genetic counselors in my main role which is education. Despite this, the resources and in particular the website associated with my Centre is one which is widely accessed by genetic counselors all over Australia and indeed internationally. 

Are there enough genetic counselors to meet patient demand? 

Currently, genetic counselors in Australia are mainly placed in multidisciplinary publicly funded teaching hospitals. There are long waiting lists for most of these services so there is definitely a growing need for more genetics services.

Do you collaborate with genetic counselors who are not local? 

Yes, we are often a point of contact for genetic counselors nationally and internationally due to our online presence. Our Centre for Genetics Education covers the area of NSW, an Eastern state of Australia with a population of over 7.5 million people. There are genetic counselors scattered throughout the state who I often work with to deliver genetics education. I have been known to hop on a plane some mornings and fly about 400 km (250 Miles) to co-present a workshop to rural practitioners and fly back home that same day. 

Are your resources limited? 

I am lucky to work in a place which is well resourced with allocated government funding. Our education projects are developed using evidence and with the help of experts and include community consultation.

How did you become a genetic counselor? 

I always had a passion for science and people. I became a genetic counselor in Australia in 1992 when there were only a handful of people working in the profession nationally. It was an exciting time to be involved in an evolving profession. My training was done prior to there being any post-graduate courses available in Australia for genetic counselors. I did tertiary courses in genetics and counseling to gain the MGC equivalency and undertook my full training whilst working in a busy children’s hospital setting. In 2000, I was awarded full certification by The Human Genetics Society of Australasia as a genetic counselor. I continue to be passionate about my job and always place patient wellbeing and support at the center of my work ethic. 

In what projects/research are you involved? 

During my work life, I have been given wonderful opportunities to participate in many research projects. I am particularly proud of my Ph.D. research which was completed in 2014. The project I undertook explored the impact cultural and linguistic diversity has on the process of genetic counseling. More recently, I completed a needs analysis of genetics education needs of nurses, midwives, and allied health professionals. 

I am currently a principal investigator on a project working with a team of Australian Indigenous experts exploring how the Aboriginal and Torres Strait Islander community prefer to talk about family health and wellbeing.

Do you specialize in any subfield(s)?

My specialty is education and cultural impacts on communicating about genetics. 

Do you serve on any committees/organizations?

Yes, I have been very much involved with the professional society for genetics counselors in Australasia, The Australasian Society for Genetic Counsellors. This is a special interest group of the HGSA. 

I have also been a member of patient representative organizations, ethics committees and education committees for health professionals.


Check out all other episodes of our Trailblazing Genetic Counselors series here.

Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email at ellen@mygenecounsel.com!

How Students Aspire And Inspire

How To Get Your High School Kids Interested In Science, Without Them Knowing It


 Me, at age 15,&nbsp;soldering

Me, at age 15, soldering

When I entered high school, I didn’t know that I wanted to advance in the fields of science and technology. Looking back on that transition now, after taking multiple accelerated science courses and as a soon-to-be college student, I can see how I was guided towards exploring these fields. I started learning the basics of scientific exploration almost unknowingly.

Some of these memories include looking at a map from the backseat of my mom’s car while trying to navigate to a geocache. This is an outdoor recreational activity where people use a GPS to hide and find containers. I also remember playing with chemistry sets in our basement and (safely, and under the supervision of my parents, of course) blowing up hydrogen gas we collected in a test tube in our basement, check out the video. These are among the first experiences that introduced me to the scientific world around me. I became interested in exploring and learning topics in these subjects, and my curiosity only increased as time went on.

A question I am often asked, whether it’s during alumni interviews or during family gatherings, is “if you could change one thing about your high school education, what would it be?” My answer is for more diverse topics to covered in classes. Having a foundation in a variety of areas is what has helped me to become comfortable taking on new challenges, overcoming obstacles, and solving problems.

 Our team of physics students with the completed trebuchet

Our team of physics students with the completed trebuchet

A story I like to share with peers interested in physics or to people inquiring how students become interested in STEM fields is my trebuchet project. I had three weeks to launch a pumpkin with my team. I think I would have freaked out freshman year if a teacher had told me I had three weeks to build a trebuchet. However, as upperclassmen, we jumped into the project. We drafted a design, bought materials at a hardware store, and began construction. From pouring a concrete mold for a counterweight to laying out specifically cut pieces of wood, we slowly made progress. We had viewed several videos on how other people had built pumpkin launchers, and after experimenting with our own we transported it to our school for launch day! With little oversight (aside from using power tools, of course) and a half-page rubric, four juniors threw a pumpkin 48 meters.

It’s a simple story, but I think it gets the point across. I see students, from the freshman in the hallways walking to biology to little kids playing with intricate apps on their phones, and I can only hope that our system of education incites a desire to explore into fields of science, technology, engineering, and math (STEM). My love for science is still evolving, and I like to look back fondly on my memories of how my family and education have guided me towards my current and future achievements. Here’s to hoping the future holds, even more, adventures inspired by creativity in such fields.

~Nathan Thomas
 Senior at Shaker High School in Albany, NY

Oprah Thinks You Should Buy a Genetic Testing Kit for Christmas … But What Does the Genetic Counselor Say?

6 Things You Must Know Before Deciding if Buying a Genetic Test Kit is Naughty or Nice.png

This is a guest blog post written by genetic counselor Brianne Kirkpatrick, MS, LCGC, who specializes in DTC and ancestry counseling. 


1.  You know that ‘Terms and Conditions’ section that we all check off without reading?  Think twice before doing that if your DNA is involved!

You may be giving rights to your DNA away in a Direct-to-Consumer (DTC) genetic test. The fine print you agree to in a Terms of Service agreement describes what may be done with your DNA, including the policies on selling data, retaining biological DNA samples over time, and sharing information with law enforcement. The terms differ from one company to the next and you should review them before you buy

2.  Surprise! You may unearth information about your family that is unwelcome.

Every day we hear new stories of people discovering relatives they didn’t know they had after taking a home DNA test.  Some consumers sign up to learn ethnicity “pie chart” results and opted in for the company’s ‘family member matching’ feature without realizing what lies ahead. DNA evidence can reveal that a relative was adopted (in or out of the family), conceived by a donor egg or sperm, or that the person sitting next to you at Thanksgiving is not your biological relative.  Sometimes the news is welcome, and sometimes not-so-much. Support groups are popping up online for those bracing from the aftershocks of a surprise discovery after DNA testing

3.  No, DTC testing is not a substitute for medical testing.

The tool-box of genetic tests available for understanding medical risks is large, and it’s full of interesting tools. DTC test options are like a set of screwdrivers in the tool-box -- they have their place, and each is useful in certain situations. But you can’t rely on a set of screwdrivers if you want to build a fence, change a tire, or a nail a picture frame to the wall.

If you want genetic testing for carrier testing, before you have children, DTC options exist but give limited results. Example - 23andMe testing: It covers about 40 conditions and uses only one technology. Companies in the clinical testing market, like Counsyl and Sema4, provide tests that screen for hundreds of recessive conditions, and their tests often involve multiple genetic testing technologies to give the most comprehensive results.

Understanding the difference between what you’re getting from a DTC test vs. medical-grade testing can be tricky. This is where a professional, like a certified genetic counselor, can be critical. If you want carrier testing, have a personal or family history of a genetic condition or disease, or need to solve a medical issue, your best bet is to speak to a certified genetic counselor first.

I’ve seen people comment that a DTC test is much less expensive than going to see a genetic counselor.  However buyer beware, there are many tests – both direct-to-consumer and medical–grade.  Be sure to get advice about which one is appropriate for you and is actually assessing the risks you think it is. 

4.  But, yes, DTC testing can provide critical medical information.

Remember I wrote that DTC tests are like screwdrivers? Well, let’s not forget that screwdrivers can be really useful, easy to access, and also the right tool for the job! It is possible to get some valuable medical information from DTC tests.  People have reported learning about medical conditions that they otherwise would not have known about had it not been for DTC testing

5.  Your DTC test may provide your raw genetic data file

What in the world is raw data? It’s a huge computer file that contains the digital readout of the DNA results created from the spit you send in for DTC testing.  Many DTC companies will allow you to download your raw data once you’ve had DTC testing.  You will then need a computer tool to analyze it.

Some analyzation tools are available for genealogy purposes only, some are for health, and some have a bit of an overlap (often unintentionally). None of them are regulated, or guaranteed to be “working” properly or give you reliable information, so users beware and be wise.

You need to know that the raw data from DTC testing is flawed. One abstract came out earlier in 2017 about the staggering false positive rate of findings that show up in raw data files. The algorithms behind the data are constantly changing and updating.  So what the data tell you today may not be the same as what it tells you next year. This doesn’t mean that all of the data within the file are incorrect, but you should know they may be.  If you plan to use these data for medical purposes, you should speak to a certified genetic counselor who specializes in this area.  It is likely that a new DNA sample will need to be taken and the test repeated in a clinical laboratory.  It is possible that your health insurance will cover these services and your genetic counselor can help make this happen. 

6.  Think before you Gift.

Sometimes a gift you expect to be a smash hit turns into a big flop. A DNA test is not exempt, but the consequences may be more serious than buying those footy pajamas. I know because I’ve been responsible for a Great Holiday Gift Flop - giving DNA test kits to my unsuspecting parents who were confused, shocked, and not entirely tickled by my gift.  From that experience, I learned that gifting a DNA test out of the blue is not guaranteed to be a good idea.   Know your DTC test AND your gift recipient before you stick this box under the tree or menorah.


Brianne Kirkpatrick, MS, LCGC is a genetic counselor and DNA consultant through Watershed DNA, a private practice focused on direct-to-consumer testing that she started in 2016. You can find her on Twitter and Facebook, or visit her website at www.watershedDNA.com.

Trailblazing Genetic Counselors: Episode 13

This is the thirteenth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ (NSGC) website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 460 professionals in the field, all in one stream.

In this episode, we interview international genetic counselors to gain insight on the experience of genetic counselors around the world. 


 Mio Tsuchiya, MPH, CGC  @30Tsuchiya   Sanofi-Genzyme ,  Sanofi K.K.

Mio Tsuchiya, MPH, CGC
@30Tsuchiya
Sanofi-Genzyme, Sanofi K.K.

What are some of the challenges you face practicing in Japan?

The awareness of the role and the importance of genetic counseling is still low among not only patients but also healthcare providers. Also, patients tend to hide their genetic conditions due to a negative image of genetic diseases in Japan. So patients and doctors are hesitant to talk about their condition and seek treatment.

How many genetic counselors do you directly work with?

There are no genetic counselors at my company except for me. But there are about 200 genetic counselors in Japan, mostly working in hospitals, so I do coordinate with them and keep a close relationship with doctors in other fields, such as cardiologists and nephrologists.

Are there enough genetic counselors to meet patient demand?

Unfortunately, no. With only 200 genetic counselors for 127 million people, it's nowhere near enough. The interest in genetic-related medicine is there but the number of genetic specialists (genetic counselors and clinical geneticists) to lead our efforts is still too low.

Do you collaborate with genetic counselors who are not local?

I work for a global pharma company so I work with genetic counselors globally, mainly in the US. I attended NSGC's AEC this year and realized that some of the genetic counselors are sharing information on crucial topics of the conference through social media. So, I decided to create my own Twitter account and join the #gcchat conversation!

Are your/patient's resources limited?

Regarding the cost of genetic counseling, it's not covered by our National Health Insurance except for some cases. The cost is different from each hospital, ranging from $50-100 USD in general.

I provide information about the role and the importance of genetic counseling for doctors who are not familiar with genetics, they say "genetic counseling is important, however, it is cost prohibitive for many patients". To expand our role in the medical field, I think it is necessary to resolve that cost issue.

How did you become a genetic counselor?

When I was in high school, I was interested in biology, especially in medical genetics. So I decided to major in medical technology when I entered college and started my research in genetics. During my research, I realized that I wanted to work closely with patients. That is when I decided to become a genetic counselor. We have own certified program for genetic counselors in Japan. Currently, there are 14 graduate schools which have genetic counseling training programs. I studied genetic counseling courses at the graduate school of Kyoto University. After I graduated, I passed the board exam and am now a certified genetic counselor.

What projects/research are you involved in? Do you specialize in any subfield(s)?

Our company provides treatment for Lysosomal Storage Diseases and I focus on this field. Recently, I have made a special effort generating awareness for Fabry Disease, such as the importance of early diagnosis and family tree taking.

Do you serve on any committees/organizations?

Yes, I am currently a board member of the Japanese Association of Certified Genetic Counselors.


  Eliza Courtney ,&nbsp; @elizakcourtney  Genetic Counsellor Cancer Genetics Service,  National Cancer Centre Singapore  Originally from Sydney, Australia&nbsp;

Eliza Courtney@elizakcourtney
Genetic Counsellor
Cancer Genetics Service, National Cancer Centre Singapore
Originally from Sydney, Australia 

What are some of the challenges you face practicing in Singapore?

I feel that the challenges faced here are in many respects similar to those faced by genetic counsellors around the world. Our group is actively involved in raising the profile of the profession and increasing the awareness of the services we deliver, both amongst our colleagues in the medical community and more broadly in the wider Singaporean population. There will always be a minority of prevailing perceptions that there is limited benefit to genetic testing and an unwillingness to acknowledge its importance in the delivery of multidisciplinary care. Through various activities, such as providing educative presentations and attending tumour boards, we continue to chip away and break down these barriers. Singapore is an extremely diverse country, rich in many cultures and religions. The careful balance between respecting people’s cultural beliefs about cancer and genetic testing, and promoting our scientific understanding, will always be an ongoing challenge in genetic counselling. Cultural competency will always be a particularly important skill when working in Singapore.

 How many genetic counselors do you directly work with?

I am fortunate to work directly with three other very talented genetic counsellors. We are an incredibly multicultural group - we all originate from four different countries (Australia, Taiwan, Singapore, and South Africa). This is also somewhat reflective of the multicultural society in Singapore. With our varied backgrounds, we bring diverse experience and perspectives to the group, which is really helpful when approaching complex cases or challenges in our work. I really don’t think there would be anywhere else in the world where you would be exposed to that level of diversity, both within the team and amongst the patients we see.

Are there enough genetic counselors to meet patient demand?

Is there anywhere in the world that has enough genetic counsellors to meet demand? Across the island, we have about 10 genetic counsellors in total working across a range of genetics disciplines, including cancer, pediatrics, prenatal, general adult and in research roles. Currently, this equates to approximately 2 genetic counsellors/million population, falling far short of the WHO recommendation of 10 genetic counsellors/million population. The head of our service, Dr. Joanne Ngeow, is a wonderful advocate for genetic counsellors and aims to recruit additional genetic counsellors over the next coming years to keep up with the increasing patient demand - in fact, we are currently advertising for a position at the moment!

Do you collaborate with genetic counselors who are not local?

A strong foundation of our service is a collaboration with international colleagues. Our team members have trained far and wide, with Master’s degrees from Australia, US, and South Africa, and with this comes many international connections that provide opportunities for research collaborations, and for seeking expert input for complex cases. We also offer support to genetic counselling Master’s programs looking for clinical placements or research projects for students. At this stage, Singapore does not have its own genetic counselling course and so we do our best to help our international colleagues in these areas.

Are your/patient's resources limited?

Healthcare in Singapore runs on a co-payment system and so there is reasonable access to affordable high-quality healthcare for all citizens. Genetic testing is still unfortunately not covered in this way and so the cost remains entirely out of pocket for patients. Fortunately, we have been given a philanthropic donation to subsidize the cost of testing for patients experiencing financial difficulties. However, as with any charitable donation, this fund is finite and unsustainable. Our team has been hard at work promoting the benefits and downstream cost savings that come with providing subsidies for genetic testing for patients suspected of having hereditary cancer syndromes (see Li, et al. 20171). We are hoping to make the case to the policymakers to implement sustainable public funding, to ensure the delivery of long-term cancer genetic testing and personalised medicine.

How did you become a genetic counselor?

I first heard of genetic counselling as a 14 year old - my mum’s friend who had been diagnosed with breast cancer was referred to a genetic counsellor for an assessment of her family history. I had just started learning about genetics (Punnett squares and maize if my memory serves me correctly) at school and she told me about this wonderful job that combined the science and talking with people. After that, my study path was planned to direct me to where I am now: I completed a Bachelor of Science (1st Class Hons) with a genetics major and psychology minor. During my holidays I arranged genetic counselling work experience at a busy genetics clinic that was used to having lots of students. The exposure to the job really confirmed my aspirations and after working for a few years in a molecular genetics diagnostic laboratory, I applied for the Master’s program. I was fortunate enough to land my first job whilst I was in my second year of the course!

What projects/research you involved in?

We are really lucky in that Dr. Ngeow is always encouraging us to extend ourselves and take on as many opportunities as possible. In my first year of working here, I have co-authored a textbook chapter and either led or contributed to more than 5 research projects. The topics have been quite varied and included both quantitative and qualitative methods. I find I get far too excited about possible research topics that span too many areas, and so I’m currently trying to figure out what I want my specialty area to be. I have particular interests in ELSI, particularly around the sharing of genetic information and insurance issues - both big challenges in the Singaporean context.

Do you specialize in any subfield(s)?

I certainly consider myself to be well and truly embedded in cancer genetics - I have not worked as a genetic counsellor in any other specialty. I always find it somewhat ironic that during my studies I always thought I’d end up in general or prenatal genetics - cancer terminology was somewhat foreign to me. By good fortune, I landed my first job under the fantastic supervision of A/Prof Judy Kirk who taught me so much about the field and provided me with such a solid foundation for my career. It’s certainly a discipline that I find truly rewarding - to have the opportunity to make a difference to the journey of cancer patients and their families, to strive for better outcomes. My friends always ask me why I enjoy doing what I do, to see people suffering from cancer, often young people my own age. And my response is always the same - whilst there can be a few outliers, most patients are usually coming to genetics to search for answers and to help their family - and if I can support them through that process and make a positive difference, then that is my day made.

Do you serve on any committees/organizations?

I am currently a member of the Cancer Service Line Development Committee for Cancer Genetics at the National Cancer Centre Singapore, which is currently in the process of establishing risk management guidelines and care pathways for our healthcare group.

Reference:

1. Li S-T, Yuen J, Zhou K, et al: Impact of subsidies on cancer genetic testing uptake in Singapore. J Med Genet 54:254–259, 2017


Check out all other episodes of our Trailblazing Genetic Counselors series here.

Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email at ellen@mygenecounsel.com!

VUS Reclassified to "Suspected Deleterious": When Genetic Counseling Updates Become Life-Saving

 Mary Ellen,&nbsp;  
  
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    @ L2653PAndMe

Mary Ellen, @L2653PAndMe

Mary Ellen always knew that her family history included cancer.  Her mom was diagnosed with breast cancer in her fifties and died in her sixties.  Early-onset breast cancer, prostate cancer, and possible ovarian cancers were seen in aunts, uncles, and cousins.  So, it was not surprising that Mary Ellen’s sister was referred for genetic counseling and testing by her gynecologist in 2008 based on this family history.  Genetic testing revealed that her sister carried a variant of uncertain significance (VUS) in the BRCA2 gene: basically, a murky result that may or may not have been responsible for the range of cancers observed in the family.  The gynecologist didn’t press the family to gather more family history information or to explore this finding further, so it was back to life as usual – until, 4 years later, when that VUS was reclassified as ‘suspected deleterious’.

Mary Ellen’s sister immediately sprang into action and saw a genetic counselor. In addition to learning that the BRCA2 variant she carried was a true mutation, she also learned that she, and other unaffected family members who carried this variant, had options to reduce their risks of ever developing cancer.  “Believe it or not, we didn’t even know that prophylactic surgery would be appropriate for us,” explained Mary Ellen.  

Mary Ellen was the next to leap into action.  She saw a genetic counselor, had testing, and opted to have her ovaries and fallopian tubes removed the next month.  “I was healthy, 56 years old, and my vaginal ultrasound was normal.  This was a preventive procedure.”  Or so she thought until her gynecologic oncologist called her on a Saturday night to say that the pathology revealed cancerous cells.  “I didn’t hear one word she said after ‘ovarian cancer,’ Mary Ellen shared.  Two weeks later she had surgery and learned that she had stage IIa ovarian cancer.  Surgery and 5 months of chemotherapy were to follow, and Mary Ellen considers herself very fortunate to be a survivor. 

Fast forward 1.5 years.  After several normal mammograms and breast MRIs, Mary Ellen decided to have her breasts removed preventively.  “It was the best decision for me.”  Once again, this was a preventive procedure.  “The breast surgeon congratulated me on beating cancer, and I thought to myself, ‘She shouldn’t say that until we get the pathology back.’ The pathology revealed that, once again, Mary Ellen already had cancer – this time a ductal carcinoma in situ (DCIS), a stage 0 breast cancer.  

Mary Ellen is alive and well at age 61 and feels very fortunate.  “My advice to others is that if you are considering genetic testing, you should always go to a certified genetic counselor first.  We were lucky.  We received the update and I had my surgeries before my cancers were more advanced.  But had we seen a genetic counselor first, I believe we would have been pushed to gather more family history information.  I also believe we would have learned our options for risk reduction earlier in the process.”

Mary Ellen’s story underlines the need not only for genetic counseling, but for receiving updates on VUS results, and all genetic test results because the field and recommendations are always evolving.  

Trailblazing Genetic Counselors: Episode 12

This is the twelfth installment in our series, “Trailblazing Genetic Counselors”, in which we highlight genetic counselors who are pioneers in the field. Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Genetic counseling is a rapidly growing field offering professionals a wide range of opportunities, which we explore in this series. Learn more on the National Society of Genetic Counselors’ (NSGC) website, aboutgeneticcounselors.com.

To keep updated with conversations and news in genetic counseling you can subscribe to our Twitter list featuring the latest updates from over 460 professionals in the field, all in one stream.

In this episode, we interview international genetic counselors to gain insight on the experience of genetic counselors around the world. 


What are some of the challenges you face practicing in India?

Awareness and acceptability of genetic counselors in medical practice is the biggest hurdle working in a developing country like India. Doctors are either unaware of the importance of genetic counselors or some they do not want anyone to challenge their opinion in patient diagnosis. However, the younger medical generation is supportive enough to understand genetics and accept it in routine OPD practice.

How many genetic counselors do you work with directly?

I work with 4-5 Genetic Counselors in my department directly.

Are there enough genetic counselors to meet patient demand?

No, we need more.

Do you collaborate with genetic counselors who are not local?

Yes, in certain outstation cases where we cannot make frequent visits we collaborate with counselors that are from the same locality. This actually helps in saving our time as well as better counseling as the patient feel more confident when they have someone from their own cultural group to help them out.

Are your/patient's resources limited?

Yes.

How did you become a genetic counselor?

With an aim to become unique, to stand in society I opted for human genetics. Gradually I came across so many practical exposures, I felt that in a country like India where medical attention is a prime necessity in so many departments we have less doctors and lesser genetic counselors for patient support. This triggered me to be a professional genetic counselor so that I can be helpful to people and create awareness about genetic conditions.

What projects/research you involved in?

Currently, I am working on the hereditary cancer project where we are targeting the family members of a cancer patient to undergo hereditary gene testing and making them aware of the importance of genetics in cancer etiology.

Do you specialize in any subfield(s)?

I am right now learning genetic counseling in neurogenetics abnormalities.

Do you serve on any committees/organizations?

I used to work with the Red Cross Society - counseling for B-Thalassemia patients, but as I have moved to a new location I am not serving anywhere currently.


What are some of the challenges you face practicing in Australia?

Lack of awareness of what genetic counselors are and what we do. Lack of resources, many hospitals employ genetic counselors but not enough. Our waiting times in the public sector are often very long and this can be challenging. As is the trend in North America, more and more genetic counseling positions are opening in the private sector for large companies or genetic counselors are working in more non-traditional genetic counseling roles like in research or in labs. One of our challenges is how to become certified. Certification is relatively easy to access if you are working in a public hospital genetic counseling role; however, it is hard to complete if you work in other areas of genetic counseling. Our research has shown that genetic counselors working in more non-traditional roles in Australasia still want to be able to access certification and become board certified, but this is difficult with our current system.

How many genetic counselors do you directly work with?

I live in a state in Australia called Victoria. Melbourne is the capital and there are about 100 genetic counselors in Melbourne. I work in a mid-size public genetic counseling unit with about 8 other genetic counselors. In my private practice, I am a sole practitioner but liaise with other private genetic counselors quite regularly. About 4 times a year we have a statewide genetic counseling meeting which usually about 30 to 40 genetic counselors attend.

Are there enough genetic counselors to meet patient demand?

There aren’t enough genetic counselors to meet patient demand. Genetic counseling is mainly still a discipline based on public health although more and more genetic counselors are being employed in the private sector. Currently, there aren’t enough genetic counselors to apply for the jobs currently available. In some centres, they are employing genetic counselors still studying at university as no one else is available. That is one of the reasons I went into private practice. I love public health. I am a public health advocate and genetics works fairly well in the public sector. However waiting times are still long. My private patients who are happy to pay appreciate that I can see them much sooner than in the public sector and that I am able to see people out of work hours.

Do you collaborate with genetic counselors who are not local?

I have been working in genetic counseling for over 14 years and know most genetic counselors in Australasia. I try to attend at least one genetic counseling conference each year and enjoy the chance to chat, network and mingle with genetic counselors when I can. In the past 5 years, I have also attended 3 genetic counseling conferences in the UK and have only just returned from the first World Congress on Genetic Counselling in Cambridge, England. In 2015 I attended the Asia Pacific Conference in Human Genetics and became a founding member of the Professional Society of Genetic Counselors in Asia and we published an article about the workshop in the Journal of Genetic Counseling this year.

Are your/patient's resources limited?

In my public sector job, there is a genetic testing budget, which is limited. There aren’t enough genetic counselors working, so our resource of time is limited. Our manager recently calculated that we are two genetic counselors lacking in the amount of work that we have. We have criteria that clients need to meet to have state-funded genetic testing. Clients who don’t meet these criteria are welcome to self-fund testing in the public sector. In Australia, like most other places around the world, we have seen the cost of genetic tests plummet and more and more people choosing to self-fund a test. In the private sector, people’s resources are greater.

How did you become a genetic counselor?

I found out about genetic counseling when I was 14 and my science teacher left teaching to enroll in the first genetic counseling course in Australia. I really enjoyed learning about genetics in high school science class and since this time I wanted to be a genetic counselor. After school, I was an exchange student to France and then enrolled into one university, changed degrees after a year then changed to another university and changed majors and picked up a diploma on the side all before finishing undergrad and starting grad school. It wasn’t the most linear path to genetic counseling. I also changed my mind and considered other allied health professions, but I went full circle and came back to genetic counseling. Genetic counseling training in Australia before 2008 was a one-year graduate diploma, which I completed at The University of Newcastle in 2004. After working full time for a year after finishing this course I enrolled in our certification program in 2006 and became board certified in 2009.

What projects/research you involved in?

About two years ago I had a desire to do more study so I enrolled in a Masters of Applied Positive Psychology at The University of Melbourne. It was great to study such an interesting, growing and positive discipline and with a genetic counseling mindset. I regularly supervise masters of genetic counselling students. I currently have a Lynch syndrome case report that I have written with colleagues and need to publish. A few years ago I conducted some research into compassion fatigue and mindfulness in Australasian genetic counselors, which I also need to publish. In my private practice, I hope to employ some research genetic counselors to help me in my quest to become more involved with genetic counseling research and to publish more.

Do you specialize in any subfield(s)?

I am really proud and feel really lucky that I am a great generalist. I started my genetic counseling career in an outreach position where when the phone rang, it really could have been anything. I obtained my genetic counseling certification in general genetic counseling without specialising and have experience in general, prenatal, cardiac, familial cancer and neurogenetic genetic counseling. I also have many years of working in large tertiary public hospitals, but I have worked in community health and private practice.

Do you serve on any committees/organizations?

I have been both a state representative and the treasurer for the Australasian Society of Genetic Counsellors (ASGC) in the past. I am a mentor in a mentoring program at the University of Melbourne. I also hope to become more involved with the new genetic counselling course, which is starting in a year or so at the University of Technology Sydney. I am also working with the Local Organising Committee of the Human Genetics Society of Australasia’s (HGSA) conference next year which will be in Sydney in August.


Check out all other episodes of our Trailblazing Genetic Counselors series here.

Want to recommend a genetic counselor that deserves the title of Trailblazing Genetic Counselor? Tweet us at @mygenecounsel or email at ellen@mygenecounsel.com!

Genetic Counselor Awareness Day Tweetchat

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To celebrate the first Genetic Counselor Awareness Day on November 9th, the National Society of Genetic Counselors (NSGC) hosted a tweetchat, #IAmAGenticCounselor. Genetic counselors shared their inspiration to join the field, their respective roles and advice to prospective students. Check out some highlights below!

We also recapped NSGC's awareness day webinar presented by our CEO/President, Ellen Matloff.

Want to read and join in on the genetic counseling conversations on Twitter? Subscribe to our Twitter list with over 460 genetic counselors and institutions! If you are a genetic counselor and not yet on the list, email us to be added!

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Blazing The Trail: Why Genetic Counselors Must Lead The Genomics Revolution

 Photo Credit:  NSGC.org

Photo Credit: NSGC.org

To celebrate the first Genetic Counseling Awareness Day (November 9th), our CEO/President, Ellen Matloff, presented as the inaugural speaker for The National Society of Genetic Counselors (NSGC) webinar event. Here’s a recap of a few career challenges she shared and her call to action for fellow genetic counselors. You can watch the full webinar on NSGC’s website.

Matloff shared her personal genetic counseling career trajectory, highlighting her successes but more importantly her failures and challenges. A major hurdle was trailblazing the fight against gene patents. It began with a harsh journal rejection for Ellen, but ended with a unanimous Supreme Court case win as part of the  ACLU case.

Her patient advocacy efforts continue today. A main focus is the accurate interpretation of genetic results for all patients. Her clinical group noted that many patients were receiving genetic testing without the involvement of a certified genetic counselor, resulting in misinterpretation of their results.  This led to unnecessary surgeries and late-stage cancer diagnoses in multiple patients. Just a few weeks ago, an Oregon woman made national news sharing her misinterpreted genetic test results which lead to unnecessary surgeries. Matloff commented on the case and offered insight on how patients can prevent their own genetic test results from being misinterpreted.

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Unfortunate and preventable cases like these inspired her to address these issues by founding a new company, My Gene Counsel (mGC). mGC provides a scalable platform for patients and providers to receive digital genetic counseling, paired with their genetic test results. The evidence-based, fully referenced streams of information are easy to understand, for both patients and providers. Push notifications are sent when variants are reclassified, as clinical information updates, and when clinical trial opportunities become available.

Matloff’s experiences have provided her with insight on how genetic counselors must position themselves as leaders, in order for the profession to move forward:

  • Why Genetic Counselors Must Lead The Genomics Revolutions
    • Genetic counselors are critical to maximize potential of genetic testing and minimize harm
    • Genetic counselors have the unique skill set necessary to make this happen

 

  • What Can We Do Collectively To Drive The Field Forward?
    • Measure and assert our value
    • Expand our skill set outside of genetics
    • Become more business savvy
    • We need the NSGC, and companies and groups to offer CEUs in business, marketing, accounting, and administration as we sharpen our skills
      • This would be a fantastic master’s degree project or grant!
    • For those of you in a position to do so, offer free CEUs to genetic counselors on these topics.
    • Expand our skill set within genomics
    • Flex with changes to innovate and lead
    • Strategize ways to collaboratively pool our resources, experience, approaches, and materials
  • What Can We Do, Individually?
    • Internalize your own value
    • Stand up for yourself, stand up for all of us
    • Identify yourself as a ‘Genetic Counselors’, first
    • Attract the best students and a diverse range of students
    • Negotiate for higher salaries and better terms
    • Support other genetic counselors
    • Support companies that value genetic counselors
      • Follow them on Facebook, Twitter, and LinkedIn. Share, retweet, comment.
    • Support and work with patient advocates
      • They are perhaps our most valuable assets.  Follow them, share their content, invite them to our meetings, hire them as consultants.
    • Start and join online conversations
      • Include the genetic counseling chat hashtag, #gcchat, and #IAmAGeneticCounselor
      • Follow our Twitter List with 460 genetic counselors and genetic counseling institutions (email us to be added)
 Photo Credit:&nbsp; donaldearlcollins.com

Photo Credit: donaldearlcollins.com

Robert Frost’s famous quote, “Two roads diverged in a wood, and I - I took the one less traveled by, and that has made all the difference” has resonated with Matloff and inspired her to add her own twist, “Sometimes neither of the existing paths work. It is then that you take out your machete and cut a third path.” We ask all genetic counselors to join us by grabbing your machetes to help us cut the third path together.

Genetic Counselors and You Webinar Series: Rare Diseases

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The National Society of Genetic Counselors (NSGC) has introduced a new webinar series, “Genetic Counselors and You” hosted by genetic counselors from a variety of fields. Webinars are live and the recording can be accessed later if you miss the streaming. Registration is free and open to the public.

The most recent webinar, “Rare Disease: What Role Do Genetics Play?”, was hosted by Kelly East, MS, CGC. You can watch the recording here

 Photo Credit:&nbsp; hudsonalpha.org

Photo Credit: hudsonalpha.org

Kelly East is a certified genetic counselor and clinical applications lead at the HudsonAlpha Institute for Biotechnology in Huntsville, Alabama. She oversees and participates in the provision of genetic and genomic counseling for research projects and clinical services at HudsonAlpha and leads the development of educational experiences and resources for healthcare providers, trainees, and patients.

East begins this webinar with an overview of the requirements for a disease to be considered 'rare' and the (surprising) number of people who have rare diseases: 30 million Americans!

The journey from undiagnosed to a rare disease diagnosis is often a long road. East explains the general steps taken by families who go through this process including misdiagnoses and genetic testing. With today’s technology, there are various types of genetic tests such as karyotypes, microarray, and DNA sequencing tests. East shares the level of coverage versus resolution for each test and how we classify genetic changes. Not all diseases require a genetic test for a diagnosis to be made; some diseases can be diagnosed based on symptoms alone. However, East highlights medical and personal values of a genetic diagnosis.

East makes a very important point: patients should reach out to their genetic counselors to revisit genetic results. A genetic variant may have been reclassified since the initial results were reported. So stay in touch with your genetic counselor!

Here are a few of the resources East mentions during her presentation:

 Global Genes

Global Genes

Register for the next “Genetic Counselors and You” webinars is "Mental Illness and Genetics: Family History, and Protecting Your Mental Health" on Tuesday, October 24 at 8 pm ET. You can watch recordings of previous webinars on the web page as well. 

Follow @MyGeneCounsel and @GeneticCouns on Twitter to stay updated on the webinar series and other genetic counseling related information.