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

Photo Credit: 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.  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 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, 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, @elizakcourtney Genetic Counsellor Cancer Genetics Service, National Cancer Centre Singapore Originally from Sydney, Australia 

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, @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: 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: 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. 

What You Can Do to Prevent Your Genetic Test Results from Being Misinterpreted

Last week we learned that a 36-year old woman from Oregon had genetic testing and was told that she carried a mutation in a gene called MLH1, that causes Lynch Syndrome.  According to a lawsuit filed by the woman, she was apparently informed that she was at elevated risk to develop cancer and counseled to have her breasts and uterus removed, which she did.  The woman claims, in lawsuit, that she later learned that her test results had been misinterpreted and that she did not carry a disease-causing mutation in the gene.  She apparently carried a variant of uncertain significance (VUS) in the gene, which may have contributed to the confusion. 

This case is upsetting and unsettling --- but it is not surprising.  Why?  My name is Ellen Matloff and I am a certified genetic counselor who has counseled thousands of patients over the past two decades. During that time, as genetic testing became more popular and more clinicians began ordering genetic testing without a certified genetic counselor, we began to see patients whose test results were misinterpreted.  Like this patient, some people had their breasts, ovaries, uterus, even colons removed because their test results were misinterpreted.  Others were diagnosed with cancers, often at late stages, because they were misinformed that their test results were normal.  We saw so many of these cases that we published three papers documenting them, the first of which was published in August of 2010.  Other patients have terminated healthy pregnancies because their genetic test results were misinterpreted.  We see similar problems in cardiac and other types of genetic testing.

Why is this happening?  The field of genetic testing is growing quickly and the average clinician simply cannot keep up.  More and more genes are being added to testing panels and the result interpretation is becoming more complex. 

What can you do to reduce the risk that your genetic test results will be misinterpreted?   This one is simple:  see a certified genetic counselor both before and after you have genetic testing.  Genetic counselors are graduate-trained professionals who specialize in this area.  They will help you to understand the risks, benefits, and limitation of genetic testing, to pick the right laboratory, and to get your insurance company to pay for testing.  After genetic testing, your genetic counselor will help you interpret the results accurately, and will walk you and your family through your options and next steps.

Photo Credit NSGC.org

Photo Credit NSGC.org

Isn’t it difficult to get an appointment with a genetic counselor?  No.  This is a fallacy.  The National Society of Genetic Counselors can help you find a counselor near you.  If there are no counselors near you, or the wait time is too long, you may access a counselor via telephone through one of the several companies offering this service.  Many of these companies accept health insurance. 

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Is it really that important to see a certified genetic counselor?  Yes.  As shown by this story, genetic testing can do more harm than good if it’s interpreted incorrectly.  This can impact you, your health, and your entire family.  This problem is so prevalent and the consequences so devastating that I started My Gene Counsel to develop digital tools that reduce the chance that genetic test results are misinterpreted. 

One last note, to the woman featured in this story, “you are not alone.  We are so sorry that this has happened to you and we are committed to reducing the chance that it will happen to others moving forward.” 

Ellen Matloff

CEO, My Gene Counsel

Jackson Lab's Forum on Healthcare Innovation

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The Forum on Healthcare Innovation: Technology and the Future of Healthcare Delivery” was hosted by Jackson Laboratories in Farmington, CT on the UCONN Health campus on October 25-26, 2017. The conference was full of healthcare innovators and professionals and covered genetic testing (including direct-to-consumer), genomics, the microbiome, patient advocacy and healthcare technology. Check out some highlight from presentations below.

Francis Collins, MD, Director of National Institute for Health, shared that the NIH also stands for hope. Reasons for hope include uncovering life’s foundations, translating discovery into health and moving forward together. Collins gave an overview of the different projects ongoing at NIH, starting with the backstory of the Human Genome Project when the human genome was first sequenced. A major aspect of the project that has impacted the future of research and healthcare was data sharing. Every 24 hours, new data collected from the day was uploaded, allowing researchers to start using the data in their own research. It would have taken years if the project researchers had waited to release data. This idea of data sharing has increased collaboration between scientists, accelerating the rate of research and development.

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Collins also shared his excitement around CRISPR, the gene editing technology, from basic research to human trials. Basic research funds are often questioned by those not working in science. But CRISPR validates the value of investing in basic research, as an example of when a new basic research discovery completely changes healthcare. CRISPR has already achieved the status of a revolution in medicine and biotechnology. Collins predicts it will cure the first molecular disease, Sickle Cell Disease.

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The current major NIH project is “All of Us” (formerly Precision Medicine Initiative). The beta stage started in May 2017 with a full launch in Spring 2018 where it will ramp up to having over 100 locations. The purpose of the project is to accelerate healthcare, specifically for individualized care by enrolling one million participants and studying their samples and big data. The term 'participants' is key, as opposed to 'human subjects', because the participants are partners in this journey. Why now? One main reason is the insane drop in the cost of sequencing: in 2004 it cost $22 million to sequence a genome. In 2017, the cost is a mere $800! “We don’t have a healthcare system, it’s a sickcare system” Collins explained. The more data we can provide showing prevention is more effective than treatment, the better we can make this transition in our health care approach.

Collins also commented on the exciting new field of microbiome research, studying the bacteria that live in and on us. Human Microbiome Project’s mission is to generate resources for comprehensive characterization of the microbiome. It started in 2008 and is now in its second phase. George Weinstock, a professor at Jackson Laboratories, stated there are 754 studies on clincialtrails.gov (as of 10/25/17) that list the microbiome. New genetic sequencing technologies (like Next Generation Sequencing) has driven this field and there are research centers focusing on the relationship between disease and the microbiome. The microbiome has additional obstacles when researching, compared to genomics, due to its enormous plasticity. Our microbiome changes with our environment, diet, etc. One interesting research study mentioned studied Olympic level athletes to find out if there is a “golden microbiome”; so far they have found a bacteria in common with many of these athletes, M. smithii. Another advancement in the field is an FDA approved product produced from microbiome research data, AEObiome’s MotherDirt. It is a body spray that is designed to be compatible with the microbiome of the skin that improves skin conditions, like acne and eczema.

James Lu, Co-Founder and Senior Vice President of Applied Genomics, Helix, discussed direct to consumer genomics and a few interesting new genetic themed apps (Neanderthal by Insitome, BABYGlimpse by HumanCode). He also talked about emerging platform for participatory research such as Precise.ly, which tracks symptoms and diseases.

Andrew Ury, Chief Executive Officer and Founder of ActX, explained how direct-to-consumer genetics can be used for potential screening for drug compatibility (pharmacogenomics). 90% of patients have potential drug genomic interactions. This is especially useful for mental health medications.

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Lisa Anderson, Co-Founder and Chief Executive Officer of Genome Medical, stressed the potential genetics/genomics medicine has to improve patient outcomes and reduce costs of care, YET it’s not accessible to all patients. Genetic testing is growing 20-25% yearly; however, the workforce is only growing by 3%, resulting in a continuously growing gap. Her company aims to reduce this gap by providing real-time access to genetic counseling. Anderson also predicts within 5 years every cancer patient will have germline and somatic sequencing.

Trailblazing Genetic Counselors: Episode 11

This is the eleventh 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) new 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 410 professionals in the field, all in one stream.

In this episode, we interviewed international genetic counseling students and recent graduates about their application process and experience in American genetic counseling programs. Check out their advice below!


Yingyue (Annie) Li Johns Hopkins University and National Human Genome Research Institute Genetic Counseling Training Program

Yingyue (Annie) Li

Johns Hopkins University and National Human Genome Research Institute Genetic Counseling Training Program

What inspired you to join the field of genetic counseling?

Prior to joining the field of genetic counseling, I worked as a research assistant in a clinical molecular diagnostic lab in the University of Iowa. The lab conducted cutting-edge disease-related research as well as provided direct sequencing service to the patients. There I was convinced that the translation of genetic/genomic knowledge and technologies were currently being quickly translated to bench side and that genetic counselors will act as the bridge of connection. Also, I found being a genetic counselor fits my personality well, and will continue to grow as a promising healthcare profession in the era of precision medicine.

Moreover, I learned that the genetic counseling service is not yet well developed or broadly acknowledged as a healthcare profession in China. I hope I can contribute to the professional growth in China someday.

What challenges did you face during the application process?

Beyond the challenges shared by most of the applicant's (time management, competitive nature of the application itself, GPA and GRE score), I, as an international student who received an undergraduate degree in a foreign university, needed to demonstrate excellent English proficiency to the admission committee via TOEFL test and my interview.

What’s more, it was challenging to volunteer in the Crisis Center as a foreigner. It was emotionally intense and extremely energy-draining since I also need to work full-time, to prepare for the GRE and TOEFL, to shadow local genetic counselors, and to complete a GC internship in a hospital.

I am grateful that I did not give up and appreciate everyone who encouraged and supported me to follow my heart.

How is your education experience different in America compared to China?

I received a traditional Chinese-style education both at home and at school. I received college training in China and then moved to the U.S. for graduate school. The philosophy of education in China was quite different than U.S.

While I was in China, I was taught to strive for excellence in terms of test scores and ranking in class. However, in my personal experience, thinking independently and being yourself was not encouraged much. The conflict has existed for a long time between the need to be accepted and acknowledged and the eagerness to follow my own heart. To some extent, I was shaped to be a submissive follower of authority, though I was equipped well with knowledge and skills.

The graduate training in U.S. is vastly different. Like for most graduate students, the workload is often intense and self-motivation is very important.

Did you start your research project? What are you exploring?

Yes, I did already started my thesis project. I was originally interested in translating, validating, and applying a genetic literacy measurement from the English language to Chinese. However, after quite a hassle, the topic has changed for several reasons. Now the aim is to gain a comprehensive understanding of the clients about their motivation, comprehension, and psychosocial as well as behavioral responses toward Expanded Carrier Screening.   

Do you have advice for prospective international students in their applications processes?

I hope those who are interested in genetic counseling will keep their confidence high throughout the application process. I hope they hold their beliefs in their decision to be a genetic counselor and stay committed to it. I also hope they recognize their unique experiences and perspectives gained from having lived in another country are irreplaceable assets and also can be highly valued by the GC program.

The status of being an international applicant does not define you or restrict you from being a qualified or excellent candidate in any way.

Last but not least, it is possible that different GC programs may have diverse policies toward international applicants, some of which are likely not listed on the website. I recommend that international students contact the program directly to ask for the specific criteria for accepting international applicants.

When is your expected graduation?

Though it is not guaranteed, I hope I can graduate in January of 2018. If not, due to the challenges to complete my thesis project, my expected graduation will be anticipated for May of 2018.

Is there a specific subfield of genetic counseling you are hoping to start or specialize in?

I do not have a strong preference toward any specialties yet. I think starting as a prenatal or cancer genetic counselor would be great for several reasons; it would be ideal if there is research element in my first GC job. In the long run, I hope I could explore the industry side to expand my roles and contribute what I learned in school and in clinics to next-generation GC education in China.


Dina Alaeddin, MGC @DinaAlaeddin The University of Maryland School of Medicine's Master's in Genetic Counseling Training Program, Class of 2017

Dina Alaeddin, MGC

@DinaAlaeddin

The University of Maryland School of Medicine's Master's in Genetic Counseling Training Program, Class of 2017

What inspired you to join the field of genetic counseling?

My interest in genetics, in general, started off from a personal experience of being diagnosed with Acute Lymphoblastic Leukemia at the age of 16. After several courses of treatment, I underwent a bone marrow transplant from an unrelated donor. The complexity of that process lead me to pursue a BSc degree in genetics. As an individual,  I like human and personal interactions, so a career in a laboratory was not what I saw myself doing.  Genetic counseling met my needs in the middle: it included the clinical aspect of seeing patients, the psychosocial involvement along with empowering individuals through education to make decisions that are best fit for them. My main inspiration in joining the field of genetic counseling is that knowing that taking this step forward, to become a genetic counselor, will help close an education gap, empower patients and facilitate the growth of this field nationally and internationally.

What challenges did you face during the application process?

Translating international courses to applicable courses in the US and making sure all required courses are completed.

Getting a hold of the right university personnel for specific questions, especially with the time difference. Getting all required documents sent to different universities.

How is your education experience different in America?

I did my undergraduate degree in the UK. The biggest difference was a number of assignments, presentations, and exams throughout the year. In the UK it is more lecture-based and so assignments and exams are occasional vs the US where daily/weekly assignments and exams are required. It took me awhile to get used to the amount of work required, especially given that it was a Master’s degree.

Did you start your research project? What are you exploring?

Yes, my research project is complete. The title of my project is "Parkinson’s Disease: Patients’ interest in genetic counseling and their knowledge and attitudes about genetics and genetic testing."

I was able to collaborate with the University of Maryland Parkinson’s Disease and Movement Disorders Center to survey patients diagnosed with Parkinson’s disease. My main aim of studying the population of patients with PD is the minimal role of the genetic counselor in this clinic; so my hope was in identifying the interest and knowledge patients have, would help support a niche of genetic counselors in PD clinics.

Do you have advice for prospective international students in their applications processes?

I would recommend that they start working on their applications early and submit them early. Follow up on some document will almost always happen; submitting early will give you enough time to provide all required documentation in a timely manner.

All genetic counseling universities require some sort of exposure. This could be in the form of clinical exposure (shadowing a genetic counselor, working as a genetic counseling assistant or in a genetic laboratory), volunteering (support groups, suicide hot-lines, etc.) Genetic counselors, in general, are almost always willing to help, reach out to them for advice and questions. Be transparent.

What subfield of genetic counseling are you specializing in? Where are you working?

I am currently working as a cancer genetic counselor at Inova Fairfax Hospital in Virginia. I am part of the Inova Translational Medicine Institute. Cancer was what I wanted to do all along. You will definitely explore the multiple specialties during your clinical rotations and that experience will help you decide what specialty you want to be in.


Jamina Oomen-Hajagos, PhD, MS, LCGC @Igastrulated LIU Post's Master's of Science Genetic Counseling Class of 2017

Jamina Oomen-Hajagos, PhD, MS, LCGC

@Igastrulated

LIU Post's Master's of Science Genetic Counseling Class of 2017

What inspired you to join the field of genetic counseling?

As a doctoral student in Genetics, I spent most of my time at the lab bench doing experiments. I found the science fascinating but did not enjoy the isolation and competitiveness of lab work. I had been teaching at a local community college and really enjoyed the interactions with my students. I thought that genetic counseling would be a great way to combine my interests in science and teaching, which has turned out to be the case!

What challenges did you face during the application process?

I found it difficult to get involved in shadowing, both because I was finishing up my doctoral dissertation and because many clinics expected students to be affiliated with a hospital already. I was definitely motivated to find shadowing opportunities because I wanted to make sure that genetic counseling would be a good fit for me, so I kept calling counselors who were open to student contact. I eventually found several genetic counselors who were willing to provide me with shadowing opportunities, and they did a great job introducing me to the field and providing feedback and encouragement. As I did not grow up in the US and went to college as an international student, the Financial Aid process was completely unfamiliar to me, so that was another challenge.

How was your education experience different in America?

I grew up mostly in various Asian and African countries. I was homeschooled in Dutch by my mother through sixth grade since we moved so much it would have been difficult for me to attend school at that time. I then did a homeschooling program in English for two years, and then was able to attend an American International School in Surabaya, Indonesia, and then in Mallorca, Spain. I think the education I received there was similar to what it is here, except that I had exposure to students from a wide variety of ethnic and cultural backgrounds, and that my class sizes were really small (less than 10 people!). I lived in the US for a few years total during my childhood and decided to come here for college, and I attended Yale University after graduating high school, where I completed a biology degree.

What did you explore in your research project?

A classmate and I did a joint research project examining clinical genetic counselors’ level of knowledge regarding psychiatric disorders and looking at whether they address mental illness in their sessions with patients. As psychiatric conditions still come with high levels of stigma and are challenging to counsel about due to their multifactorial inheritance, they are often not addressed or are misunderstood. Our project also evaluated genetic counseling students’ knowledge base about psychiatric conditions. Overall, both practicing GCs and GC students were found to have difficulty with basic questions regarding mental illness, suggesting that current training programs are not providing sufficient instruction in this area. We surveyed students to see how they thought their education could be improved to make them more comfortable counseling patients about these conditions, and their responses suggested that a variety of additional training opportunities may be needed.

Do you have advice for prospective international students in their applications processes?

I would say that, before deciding on a program, it is a good idea to look into the practicalities of completing the program, such as the costs of the program itself, housing and other living expenses, whether a car is required, etc. Ask lots of questions to determine if a program is a good fit. Find out if there are other international students you can speak to so you can get their perspective. If you plan on staying in the US, I would recommend investigating whether employers are willing to sponsor international students for positions in the region where you want to work. I was no longer on a student visa when I was in my program, but I know international students who found sponsorship to be a challenge.

What subfield of genetic counseling are you specializing in? Where are you working?

I am currently working as a genetic counselor in the Hereditary Cancer Assessment Program at the University of New Mexico Cancer Center. I decided to specialize in cancer counseling relatively early on during my training program, and am really enjoying my work with the diverse and multicultural patient population that we have here.


As you complete your applications, check out our other blog posts with applications and graduate school advice from program directors part I and part II and 14 other genetic counselors.

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!

To Have Or Not To Have Genetic Testing?

September and October are Ovarian and Breast Cancer Awareness Months, respectively. Bridging the two months is Hereditary Breast and Ovarian Cancer Week which includes National Previvor Day. 

We asked previvors in the community: what would you like to say to the person on the fence about whether or not to have genetic testing? Here's the advice they offer!

Photo Credit: Laura Rice

Photo Credit: Laura Rice

Are you a previvor and want to share your advice? Tweet us @MyGeneCounsel or email Ellen at ellen@mygenecounsel.com.

The National Comprehensive Cancer Network (NCCN) Guidelines Have Updated: Here is What You Need to Know

October 2017

Photo Credit: Ted.com

Photo Credit: Ted.com

The National Comprehensive Cancer Network (NCCN) provides guidelines to help determine who should have genetic testing for hereditary cancers and how individuals should be followed after testing. They recently published updates to these guidelines that we’ve summarized below. The full guidelines can be found here. We’ve also previously published a list of risk factors, that if present in your personal or family history, should prompt consideration of seeing a certified genetic counselor.

Here are the additions:

1. Who should have BRCA testing?

a. Any man with a personal history of metastatic prostate cancer is a candidate for BRCA and BRCA2 testing. Metastatic prostate cancer is a cancer that has traveled outside of the prostate. 

b. Anyone found to have a BRCA1/2 mutation in tumor tissue (known as a somatic mutation) from ANY TUMOR TYPE is a candidate for BRCA testing, to learn if this mutation may be in other cells of their body and thus inherited. This addition was made in the December 2016 update to the NCCN guidelines but is worth repeating as it is still relatively new.  

c. Again, please find a full list of risk factors here.


2. I have a BRCA mutation, how should I be followed?

a. Women with BRCA mutations who are being screened for breast cancer should consider MRI as the preferred screening method due to the possible risk of radiation exposure from mammography. 

b. If breast MRI screening is not available or not possible, a mammogram can be done with consideration of tomosynthesis (an advanced type of mammogram sometimes called a 3D mammogram). 

c. For women with a BRCA2 mutation, the guidelines restated that it is reasonable to delay ovary and fallopian tube removal until age 40-45. However, this should be considered carefully in the context of your personal and family history. 

d. For women who have not had their ovaries and fallopian tubes removed, the guidelines revised that screening with transvaginal ultrasound and CA-125 blood marker is of uncertain benefit, but may being at age 30-35.

 

3. Any other updates?

a. The guidelines for breast cancer screening for individuals with Li-Fraumeni (TP53 mutations), Cowden syndrome (PTEN mutations) and mutations in the ATM, CDH, CHEK2, NBN, NF1 and PALB2 have added that mammogram can be done with consideration of tomosynthesis.

b. Other updates include changes in management for individuals with Li-Fraumeni (TP53 mutations), Cowden syndrome (PTEN mutations) and mutations in the ATM, CHEK2 and NF1 genes. Please see the full document for these details.

“But Would YOU Vaccinate YOUR Children for HPV?” One Pediatrician’s Candid Reply

Photo Credit: meetpositives.com

Photo Credit: meetpositives.com

Joseph Nimeh, MD, Assistant Professor of Pediatrics, SUNY Upstate Medical

Joseph Nimeh, MD, Assistant Professor of Pediatrics, SUNY Upstate Medical

I’m a pediatrician, but I have absolutely no affiliation with any drug company, and certainly not with one that is marketing this vaccine. Nor do I have any other financial or any other relationship to those marketing and producing and profiting from HPV vaccines. 

Let us state some very well known facts for clarity.

Photo Credit: cancer.gov

Photo Credit: cancer.gov

#1  Cervical cancer typically kills more than 4,000 women every year in the United States. The number is significantly higher if you consider worldwide deaths. 

#2  Women virtually never get cervical cancer unless they have a HPV infection. The virus is the one link that has been shown to cause cervical cancer.  The HPV virus also causes many other types of cancer, including cancer of the head/neck, penis, anus, and tonsils, as well as genital warts.  So HPV impacts both women and men.

#3  HPV infection generally goes unnoticed. It is asymptomatic. And it is extremely common in the general population. Although it is true that most people who get HPV do not go on to develop cervical cancer, it is also true that those who have HPV infection will not know unless they are specifically tested for it. Therefore, someone who is sexually active is clearly at risk for HPV infection and therefore may be at risk for the associated cancers,  and they may never know this until it is too late.

Photo Credit: humbleisd.net

Photo Credit: humbleisd.net

#4  There are some case reports related to adverse effects of the HPV vaccine. However, the vast majority of these have not been proven to be causal - in other words, it is not clear that the vaccine caused the reported effects. The most common side effects of the HPV vaccine are those typical of any other vaccine…

(a) pain at the injection site

(b) a "large local reaction", which is a red spot around the vaccine site and is thought to be due to an immune response in the body and is self-limited

(c) the chance of introducing an infection at the site of the injection (which can happen any time we break the skin and is, with very rare exception, prevented by cleaning the skin with alcohol prior to injection)

(d) self-limited fever  

(e) an allergic reaction, which is also always possible anytime we introduce a foreign substance (antibiotics, probiotics, additives in foods, pesticides you put in your lawn but inadvertently breathe in, etc) into our bodies.

These known potential adverse reactions are nearly always self-limited and inconsequential. While it may be true that there are isolated cases of people who have experienced  more serious complications after having this vaccine, those are extraordinarily rare, and they are tracked by a national reporting system called the "VAERS" or "Vaccine Adverse Event Reporting System". This system exists so that very uncommon reactions can be tracked and analyzed to determine whether they were caused by vaccines or by something else. These events are certainly far rarer than the number of women who die of cervical cancer every year.

Photo Credit: wmaofnashville.com

Photo Credit: wmaofnashville.com

#5  It is true that condoms are an effective way to reduce the risk of acquiring sexually transmitted diseases. Their use is highly recommended for this reason.  However, condoms are not always effective for preventing the transmission of HPV because the virus can be passed through skin-to-skin contact.  And, of course, condoms only work when you are using them.   So, although I highly recommend condoms with every sexual encounter to all of my patients, I don’t believe that it obviates the need for the HPV vaccine.

#6  The original HPV vaccines protected against four strains of the HPV virus,  while the new vaccine protects against nine. These nine strains encompass the vast majority of strains known to cause cervical cancer. So although there are many strains that are not covered, the vaccine provides a high degree of risk reduction against HPV infection and therefore reduces the risk of cervical and other HPV-related cancers.

#7  I am one of the most skeptical people on the planet when it comes to the motivations of pharmaceutical corporations to make profits. In some instances, it is a corrupt industry that profits at the expense of people taking the drugs which they manufacture. However, we are fortunate to live in a society in which vaccine administration has many checks and balances before the vaccines are marketed to the general public. There are years of clinical trials that look for rare adverse events. On the whole, the system works well to protect the public. 

Photo Credit: cancer.gov

Photo Credit: cancer.gov

#8  This vaccine has intentionally been recommended to be given to children before they will become sexually active as a two-dose series beginning at age 11. Once you have the virus, the vaccine is ineffective against that strain. This is true for nearly every vaccine-preventable disease. One fact that people may not realize is that this vaccine was originally marketed as a three-dose vaccine series. However, follow-up studies showed that the vaccine was equally effective if given in two doses (if started before age 15) and that is now the recommended schedule.  This reduction in the number of total shots certainly doesn't benefit the pharmaceutical companies.

#9  Vaccines are imperfect. For example, the rotavirus vaccine is given to infants to prevent severe diarrheal disease in infancy. The original formulation of the vaccine, however, was shown to cause intussusception…a serious and potentially lethal intestinal problem. When this was discovered by post-marketing analysis, the vaccine was immediately removed from public use. It has since been reformulated, retested, and redistributed to the general public with great success. This is an example of how the VAERS works effectively. 

Photo Credit: businessinsider.com

Photo Credit: businessinsider.com

#10 It's easy to forget that over the last 50 years or so, millions and millions of people who would otherwise be dead are still alive because they were vaccinated. Just a few short decades ago, it was not at all uncommon for children to die of meningitis, epiglottitis (caused by Haemophilus influenza type B (HiB vaccine prevents this)), tetanus, polio, smallpox, and many others.  These diseases are now nearly unheard of. You can look up Google images of people standing in line for many city blocks waiting to get the polio vaccine because they saw the effects of that disease with their own eyes on a daily basis.  It (not surprisingly) scared the hell out of them because they knew it could affect them and their loved ones.  We have proven that those vaccines worked and prevented those diseases. My strongest instincts tell me that exactly the same thing will be true for the HPV vaccine. Indeed, data are already emerging showing a significant reduction in cervical cancer rates after the implementation of the HPV vaccine. When can you think of another time when getting a shot could claim to prevent cancer? If you knew that a vaccine could protect you against lung cancer or colon cancer or breast cancer or prostate cancer and that it was nearly always safe, would you not ask for it?

 

Medicine and its capabilities have always been about risk-benefit analysis. In this particular instance, in my opinion, there is absolutely no question as to which side of the analysis this issue falls. My daughter is three and my son is five. There is absolutely no question in my mind that they will be at the doctor’s office to receive their HPV vaccines when they turn 11.

I Survived the NSGC Conference in Columbus

Brittany Gancarz, LGC, @GeneGrayDNA  

Brittany Gancarz, LGC, @GeneGrayDNA  

Swarms of genetic counselors recently descended on Columbus, Ohio, for four days of the genetic counseling immersion that is a National Society of Genetic Counselor's Annual Education meeting. I was thrilled to go and also very fortunate to have won an NSGC travel scholarship. To be fully confessional here, I spent weeks leading up to the conference studying the preliminary program.  I may have made a schedule of the talks I would go to before my plane took off.

Have you ever been driving and suddenly know you’re on a college campus?  Everyone’s young, toting a backpack, and people starting crossing the street without looking? I can’t help but think that to a trained eye, the NSGC AEC might be as recognizable.  You’d see tons of women. At first, you might think it’s an ad for Ann Taylor Loft. Then you’d notice they all have name badges on lanyards and they’re all carrying the same tote bag with the NSGC logo on the front! The keen eye might even pick up on the unusual number of people with DNA paraphernalia (including my double-helix earrings!).

At this year’s conference, I was pleasantly surprised to note a little more diversity in the attendees than what I just described. (Although cardigans were still there in abundance.) Genetic counseling is known for being a homogenous field desperately wanting for diversity.  (I am not helping, as I am a white, cardigan- and ballet-flat-wearing woman with DNA earrings!) This year I noticed a greater showing of our XY colleagues, both in practicing counselors and students. Many speakers and talks mentioned the need for diversity in our field, not only in gender but also racial and economic diversity. We had a very enlightening session on implicit bias and the need to address our biases before we can make progress.  I may be an optimist, but with the conference as evidence, it seems that we are moving in the direction of diversity. Yes, I did have a little reflective moment on the irony that in genetic counseling, we say things like: “Look, men! Diversity!”    

Job posting board for the East Coast at NSGC17

Job posting board for the East Coast at NSGC17

One theme of this year’s conference was innovation. It’s so exciting to hear from counselors who are doing things differently: expanding accessibility, collaborating with other healthcare providers, challenging the model of “identify and refer” for getting patients to genetic services and getting truly integrated into so many areas of healthcare and industry.

Two of my favorite sessions also reflected innovation in the AEC itself.  Friday morning offered interactive workshops. Inspired by our upcoming genetic counseling program at UConn, I attended “Teaching Genomic Medicine: A Train-the-Trainer workshop.”  The workshop spoke about the flipped classroom and team-based learning, which filled in gaps in my knowledge about these educational models and let me learn side-by-side with our new program’s wonderful directors. It also filled me with daydreams about the ways we may engage our future genetic counselors-in-training. (UConn GC Program takes AEC 2020?! Can’t wait.)

A debate on the merits and drawbacks of expanded carrier screening was also a fantastic session. I had looked forward to this since first cracking the preliminary program, as I often have a debate about expanded carrier screening inside my own head. The debate format provided excellent insights offered by both presenters (who were brave to take on such a format!) and allowed a lot of audience participation. 

Another theme that continued to be highlighted was our counseling skills. It is abundantly clear that the information we handle and relay is getting more complex. As genetic counselors, we are not only means to genetic testing. Our counseling skills and commitment to whole-patient care, combined with our rigorous knowledge about genetics and its testing, make us unique and irreplaceable.  Finally, the takeaway of any conference is that any genetic counselor or a genetic counseling student is not alone. Whether you fit the stereotype of a GC (like me!) or you are bringing diversity to our profession (yay, you!) you are walking in a profession that is as supportive of its own as we are of the patients for whom we care. 

Get an inside look at the conference through genetic counselor's tweets with #NSGC17. And check out next year's location below!

Our CEO’s College Roommate Has Gone Wild

This is the second installment in our brand new series, "Our CEO's Crazy Friends and Their Science Adventures". Each episode is written by one of our CEO's friends, who is not necessarily a science expert, but wants to share their passion for science. 

Danielle and Heidi.JPG

I’m an English teacher.

I began my college career at Union College as a math major.  Lucky for me, Union’s Common Curriculum requires that every student take coursework across multiple content areas.  One random day during the spring of our junior year, my roommate, who is now the CEO of MyGeneCounsel, suggested I attend a meeting for people who might consider enrolling in Union’s new teacher education program.  “You’d be good at it,” she said.  And so, I graduated as an English major, but I studied all of it.

So I’m an English teacher. 

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Still, I think the most important concepts I teach my middle school students are the connections that they can make among all content areas. The bottom line is that connections create permanent impressions on growing minds.

As a co-advisor to our school’s garden club, our primary goal is to awaken our students’ connection with nature and eating whole foods; we try to emulate other Edible School Gardens around the country and around the world.  Check out this one.

During our meetings that take place during the school year and throughout the summer, we inform our students about the problems with the food industry, introduce them to the concepts of sustainability and healthy eating, and provide them with small ways that they can begin to change the world.   We watch clips like this one, about the Doomsday Seed Vault, the trailer for FOOD, Inc. and the review of the book The Omnivore’s Dilemma to learn more. 

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We grow our crops from seeds.  We have learned, together, that it’s hard to grow watermelon on Long Island, and that it’s easy to grow broccoli and Brussels sprouts.  We have learned that weeds are strong, and that they are hard to control without pesticides, but that weeding is worth our time.  Most importantly, we have learned that working together is extremely rewarding.  Our club consists of children from all grade levels in our middle school, children from all social cliques, children from all academic tracks, from all ethnic backgrounds.  They are all gardeners, and they nurture one another the same way they nurture their plants. 

~Heidi Edmonds

 

To see more pictures of our club in action, visit Ronkonkoma Community Garden’s Facebook Page

Genetic Book Lovers Recommend Their Favs

To celebrate National Book Lover's Day we asked our genetics community to share their favorite genetic/healthcare books. Check out all the book recommendations below!

We want to add your book recommendation, tweet us @MyGeneCounsel or email in at Ellen@mygenecounsel.com!