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. 

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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!

VP in Finance Develops Total Eclipse of the Heart

This is the first 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. 

Debbie Cantor Rothschild with her son and husband.

Debbie Cantor Rothschild with her son and husband.

My name is Debbie and I’m the most unlikely person to be interested in science.  I work in finance and have done my time on the marketing circuit, but science has never been my strong suit nor my interest.  However, this all changed about a year ago when I started reading about the solar eclipse.  After Bonnie Tyler’s “Total Eclipse of the heart” stopped playing through my head, I dug into research.

 

As I started to dive in, I learned that science was willing to meet to meet me halfway.  I found podcasts, websites, and inserts in newspapers and magazines that talked to me, someone who doesn’t understand technical terms that I can’t pronounce. Neil Degrasse Tyson has done wonders for science in recent years.  I think much of science is taking his lead.  I discovered that living in Charleston, SC put me in the optimal location to view the eclipse.  I devoured NASA’s website and other science articles – why it happens, what it is, how to view it, etc. 

Solar Eclipse, Photo Credit: visitalton.com

Solar Eclipse, Photo Credit: visitalton.com

Then I spread the gospel.  I told friends who lived far away to make their hotel reservations and I told friends nearby to buy their special viewing glasses (I bought a 10 pack back in March).  I discuss it every chance I get - not just what to serve at an eclipse party (black and white cookies, for sure) - but the science behind it.  After several eye rolls, I've won over my friends too.  Fortunately, both my husband and son are already interested into science, so they happily welcomed me aboard the science train. 

I was thrilled when school was declared closed for the eclipse.  Even more thrilled when invitations to eclipse parties started rolling in.  I have already scouted prime locations, riding around at 2:30 in the afternoon to determine the best view.  I’m happy to welcome NASA and the rest of the media to Charleston, SC. I know there are many other amazing things going on in science and I plan to learn all about them, too.  Until then, I am counting down to the eclipse on August 21, 2017!

Here are some of my resources:

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Nasa.gov – They are the go to and most of the information is clear and concise.  They also have a store where you can buy glasses, t-shirts and other eclipse paraphernalia.

 

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Eclipse2017.org – This site dedicates themselves to the safe observation of the eclipse and has a countdown on its page.

 

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The New York Times – They have been running print and website articles all month.  In the August 6th paper there was an eclipse insert filled with tons of info and pictures.  Some of it is available online.

 

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The 2017 Total Solar Eclipse podcast – this is great for regular podcast listeners.  These are short tidbits about the eclipse and list our times in various locations.

 

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Charleston CVB – if you will be lucky enough to be at the epicenter of the eclipse, google “Charleston Goes Dark” and you will be redirected to the Charleston CVB site which lists out all the events going on.  Other cities have these too so check locally to see what is going on.

Learn more in The Journal of the American Medical Association's (JAMA) "Safely Viewing Solar Eclipse" article published today. 

Stay tuned for new episodes of "Our CEO's Crazy Friends and Their Science Adventures"! 

Genetic Counselors and You Webinar Series: Alzheimer’s Disease

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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, “My Risk for Alzheimer’s Disease: Is the Answer in My Genes?”, was hosted by Susan Hahn, MS CGC. Hahn provided an overview of Alzheimer's disease, the role genetics plays in disease risk, and how genetic testing for Alzheimer's differs from other types of genetic testing. You can watch the recording here.

Susan Hahn is a Neurogenetic Outreach Specialist at Quest Diagnostics. She conducts clinical consultations to assist providers with test identification and selection, result interpretation, and appropriate management. Hahn served as President of the American Board of Genetic Counseling, is member of the American College of Medical Genetics, and is an active NSGC leader

To kick-off her webinar Hahn explains why Alzheimer's disease is such an important topic. Firstly, it is one of the most feared disease in America. Alzheimer's disease is the only condition among top 10 causes of death with no cure or treatment and affects 5 million people in US. For the overall population, the lifetime risk of developing the disease is 10-15%. Hahn also cleared up a common misconception, the term dementia is not interchangeable for Alzheimer's disease. Rather, Alzheimer’s disease is the most common type of dementia.

Hahn’s Key Points:

  • Even in the absence of family history we are all at risk for Alzheimer’s Disease

  • The gene, APOE, is neither necessary nor sufficient alone to cause Alzheimer’s Disease

  • Genetic Counselors work with you to understand your genetic risk, genetic testing and genetic testing results. They also help you adapt to and understand this information.

Hahn explores the types of Alzheimer’s Disease, which can be categorized into Mendelian, complex family and sporadic. She also explains APOE’s correlation with Alzheimer’s Disease and the risk information provided by APOE genetic test results. It is recommended that prior to testing patients first meet with a genetic counselor to learn more the risks/benefits/limitations of genetic testing for Alzheimer’s Disease.

Register for the next “Genetic Counselors and You” webinar, “Rare Disease: What Role Do Genetics Play?” on 8/22 at 8pm ET.

Trailblazing Genetic Counselors: Episode 10

This is the tenth 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 380 professionals in the field, all in one stream.

In this episode, we highlight Part II: Program Directors of new genetic counseling graduate programs. Additional training programs are greatly needed to meet the ever-increasing demand for genetic counselors. According to the U.S. Bureau of Labor and Statistics, the projected growth of the field between 2014 and 2024 is 29%. That’s a huge increase compared to the 7% average growth rate for occupations overall.


The genetic counselors in Columbus are all passionate about promoting the genetic counseling profession and ensuring that genetic counselors are integral in all healthcare settings. As part of this mission, the Genetic Counseling Graduate Program at Ohio State University was developed to help meet the growing demand for qualified master-degree genetic counselors.

Ohio State University aims to train genetic counselors who will promote the genetic counseling profession in a scholarly manner. Program Director Dawn C. Allain, MS, LGC explains how they strive to achieve this goal, “we focus on preparing our students to share their genetic counseling expertise through teaching, clinical care, and research. We measure the success of this aim by monitoring our graduates journal publications, grants, teaching experiences, regional/national presentations, and clinical successes (such as patient advocacy work, new service delivery models or the development of new clinics).”

The program also has a strong focus of encouraging and teaching students to develop and hone their leadership skills for not only their future employment positions, but within the profession. Allain shares why Ohio State University is an exceptional place to accomplish this, “Columbus is home to a great group of genetic counselors who hold positions within several of our genetic professional organizations. Thus, our clinical supervisors and course directors model professional leadership on a day-to-day basis for our students. We encourage our students to volunteer early, and often, for leadership development opportunities and identify mentors who will help them achieve their own professional development successes.”

Students in the program work in prenatal, cardiology, neurology, pediatrics, cancer, laboratory and medical genetic clinics. Clinical sites in the Columbus area include Ohio State University Wexner Medical Center, OhioHealth, Mt. Carmel Health Systems, Nationwide Children’s Hospital, Dayton Children’s Hospital, and Miami Valley Hospital. Over the summer students have options for clinical sites around the country in locations such as Washington, California, Missouri, Vermont, Michigan and Hawaii.

A unique feature of the program is how early clinical placements begin, “Our students start clinical placements on day one of the first semester.” Allain comments, “Seriously, for the last two years the first day of the semester is a clinical placement day so our students go directly to their clinical placement before they are even in a class.”

Allain outlines two basic and easy things students should do during the application process, “First, you need to remember that you are applying to professional degree programs. As such, you must exhibit and maintain a high level of professionalism during your interactions with graduate programs; from the very first email to the very last thank you. Second, answer the questions asked of you on the application. Developing one personal statement to be used for every application is not in your best interest because although the applications questions have some overlap, there are slight differences in how a program may ask the question. If you do not provide a direct answer to our applications prompts, then this affects the evaluation of your application and may hinder you from being offered an interview.”

Currently the program accepts 10 students per year, and hope to expand to 12 students in the near future. If you're interested in joining a future class, learn more about Ohio State University’s program on their website.


In 2014, a Genetic Counseling Program Development Committee was formed and charged with exploring the feasibility of establishing a Genetic Counseling Program at Bay Path University. A study showed a void of programs specifically in Western Massachusetts which led to many qualified applicants being turned away. In November 2016, the program received accreditation from the Accreditation Council for Genetic Counseling (ACGC).

Program Director, Susan Capasso, MS, EdD, explains that obtaining clinical sites has been one of the greatest obstacles in developing the program, “Many genetic counselors do not have the ability to take on students due to time and space constraints. However, many are excited about being a part of this new hybrid program and are eager to help. It is hoped that as more genetic counselors enter the workforce more sites will become available for all genetic counseling programs so that this will not be as difficult.”

One aspect that makes the program unique is its hybrid online/in-person format. The class of 12 students will start with a two day orientation at the East Longmeadow Campus followed by other meetings with speakers and activities. Students will do community projects with other Bay Path University programs including starting a National Organization for Rare Disorders student chapter.

The flexible delivery of courses allowed Bay Path University to recruit students from different areas in the country and currently the clinical sites are predominantly in Western Massachusetts, New York, and Connecticut, but sites throughout the United States are being added. Capasso believes that “by allowing the students to do their clinicals in different areas, they will have rich and varied experiences. Students will also have rotations in the laboratory, and industry in the program.” A few of their current affiliation sites include Bay State Medical Center, UCONN, Yale, St. Vincent’s Medical Center, New York Health department, and Bay State Molecular Lab. Capasso is also taking requests from students for specific sites across the country.

Students in the program will have a mentored independent research project and will present their research results at the annual Bay Path University Academic Achievement Day. They will also submit abstracts to the New England Regional Genetics Group and the NSGC or other organizations for presentation at the regional and national levels.

For those interesting in applying to the program, here’s what Capasso is looking for in a candidate, “I believe that it is important to have solid grades in the sciences, to develop a strong well written personal statement on why you would like to be a genetic counselor, to be personable with great communication skills, to have worked or shadowed a genetic counselor, and to have some experience working in some capacity with children, families or fellow students. When you come to the interview be yourself and don’t be afraid to express yourself. If you are not accepted into a program try again, strengthen your application. I have been contacted by applicants who did not make it into a program including the program at Bay Path and we discussed what they could do to strengthen their applications. These applicants are currently working to reapply again and approaching the experience in a positive way.”

Check out Bay Path University’s genetic counseling hybrid online/in-person program on their website.


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The motivation to start the Thomas Jefferson University genetic counseling program was in a partnership between The Delaware Health Science Alliance, Thomas Jefferson University, the University of Delaware, Nemours and the Christiana Healthcare System. This alliance sought to improve patient care and recognized the importance for a genetic counseling program based on the increasing demand for genetic counselors.

Zohra Ali-KhanCatts, MS, LCGC. Photo Credit: Christiana Care News

Zohra Ali-KhanCatts, MS, LCGC. Photo Credit: Christiana Care News

One of the initial challenges in developing the program was the decision regarding which would be the degree-granting institution; ultimately it was concluded Thomas Jefferson University was the best fit. Once this was decided, Co-Program Directors, Rachael Brandt, PhD, MS, LCGC and Zohra Ali-KhanCatts, MS, LCGC faced the challenge of developing the program in an area with a fellow genetic counseling program nearby, “We developed the curriculum so that the content is integrated vertically (within each term) and horizontally (across terms), with intentionality such that students’ academic acquisition is complemented with related content and applied toward clinical performance in a stepwise fashion. For example, prenatal related content is provided in one term and a prenatal clinical rotation would occur following that term.”

Rachael Brandt, PhD, MS, LCGC Photo Credit: Thomas Jefferson University

Rachael Brandt, PhD, MS, LCGC Photo Credit: Thomas Jefferson University

There is a list of 28 institutions currently in the process of developing affiliation agreements with Thomas Jefferson University, a few include Albert Einstein Medical Center, Atlantic Health System, Bay Health Medical Center, Fox Chase Cancer Center, Geisinger Health System and Recombine.

The program is small with six students in each class. To become one of these students, applicants can take advice from Brant and Ali-KhanCatts, “Students are encouraged to critically evaluate their application to include solid GRE scores (ideally 60th percentile) and a GPA of 3.0 with high grades in pre-requisite classes, to shadow with a genetic counselor to the extent that a recommendation can be provided and ample amount of cases is observed from which students can be reflective during an interview, and to submit a personal statement that reflects the individual, not one that just reiterates the resume. Program Directors want to be moved by the personal statement, so they can understand who the person is applying, not just what he or she has done, but how these experiences have made an impact.”

Explore Thomas Jefferson University's genetic counseling program further by visiting their website.


For a small state, New Jersey is quite diverse, and has a number genetic professionals working both in hospital and non-hospital settings. Until now, there has not been an accredited genetic counseling Master’s program in New Jersey. With today’s job market the need and justification for a program was clear. In 2013, Rutgers University merged with the leading medical school in the state, creating Rutgers Robert Wood Johnson Medical School. This merger between the academic and clinical sides created the right atmosphere for Rutgers’ Genetic Counseling Masters Program (GCMP) to be developed.

Rutger's new program has been met with enthusiasm from genetic professionals across the state. For some, like Program Director Jessica Joines, MGC, CGC, it's exciting to see the revival of the program, “Rutgers was actually a pioneer in the field of genetic counseling, having a program during the 1970s – so it has been quite an honor to have the opportunity to build the program once again. We hope the GCMP alumni will provide a steady stream of genetic counselors to fill openings around the state and beyond.”

As a new program, Rutgers is in the position to shape the curriculum to meet the evolving nature of the profession. New Jersey is home to many biotech and genetic testing companies and Rutgers has collaborated with these organizations to create a variety of experiences and opportunities for their students. Affiliated clinical sites located in New Brunswick include Rutgers Robert Wood Johnson, Rutgers Cancer Institute of NJ, and St. Peter's University Hospital with additional sites throughout the state.

Joines shares that their inaugural class of six students will “begin rotations in the spring of their first year. The goal of these rotations is to practice beginning skills and to observe the practice through a new lens. The main and more in-depth clinical rotations begin in [the following] summer with the objective of allowing students to have ample time to develop advanced skills and also be available to perform all case management roles, including results disclosure and report writing. In their second year, students will each have a semester long rotation with a genetic counselor/professional working in a non-hospital setting (examples include GeneDx, Amicus Therapeutics, Reprogenetics). We aim to have our graduates feel prepared to enter a variety of jobs both inside and outside of hospitals.”

Joines offers her insight as a program director for applicants, “We do acknowledge that it has become increasingly difficult to obtain shadowing experiences (especially for applicants in certain areas of the county) – so think outside of the box for ways to deepen your understanding of the profession – attend Open Houses, watch NSGC master videos, interview genetic counselors over coffee, get involved with support groups for patients and families with genetic diagnoses.” For students who don’t receive admission on their first try, Joines offers additional advice, “If you don’t get in after applying, don’t give up. Many incoming students are re-applicants. Set up a time to speak with the Program Directors of your top choices and find out what you can do to improve and then do it! This shows maturity, dedication, and self-awareness – all qualities of successful genetic counselors!”

Learn more about Rutgers’ program on their website and in-person at their next open house on October 14th!


Interested to hear about more brand-new genetic counseling programs? We have interviewed all program directors with newly ACGC accredited status, the other half of our spotlights are in Part I of this blog post.

You can also 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!

Trailblazing Genetic Counselors: Episode 9

This is the ninth 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’ 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 380 professionals in the field, all in one stream.

In this episode, we highlight Part I of Program Directors of new genetic counseling graduate programs. Additional training programs are greatly needed to meet the ever-increasing demand for genetic counselors. According to the U.S. Bureau of Labor and Statistics, the projected growth of the field between 2014 and 2024 is 29%. That’s a huge increase compared to the 7% average growth rate for occupations overall.


Florida has far fewer genetic counselors per capita than the other 10 most populous states. The development of University of South Florida’s (USF) genetic counseling program was “primarily driven by this demand for more genetic counselors in Florida and a significant need to improve genetics/genomics education at USF” according to the program director, Deborah Cragun, PhD, MS, CGC. The rate-limiting factor for the four-student class size is this low number of genetic counselors in the area. However, there is a local site for students to complete clinical rotations on-campus through the Division of Genetics.

Photo credit: usf.edu

Photo credit: usf.edu

The program has also received support from genetic counselors across Florida, allowing students to travel for their clinical rotations to sites like Moffitt Cancer Center, Integrated Genetics, and Orlando Health. “Support from practicing genetic counselors in the state is a key strength of our program and we greatly appreciate their willingness to help train the next generation of genetic counselors.” Cragun comments, “As the number of active genetic counselors in the state increases, so will our program size.” Clinical rotations are treated with a gradual-release method with students observing first, then slowly taking on new roles like drawing pedigrees, gathering medical records, and completing paperwork for genetic testing.

Most genetic counseling programs offer a Master of Science in human genetics or genetic counseling. USF’s genetic counseling program is instead integrated within the College of Public Health. Students earn a Master of Science in Public Health (MSPH) with a concentration in genetic counseling. Cragun shares her insight on the benefits of this different style, “This novel MSPH curriculum provides our students with a broader healthcare and behavioral health perspective that we believe delivers added value as scientists learn more about the complex interactions between genetic, environmental and behavioral risk factors and as genetics becomes infused into more aspects of health care and disease prevention”.

Cragun also offers her advice to students in the application process, “We look for students who have made an authentic choice to apply for admission into our genetic counseling program. Whether discussing counseling, shadowing, leadership, or research experience, the strongest candidates are distinguished by their ability to articulate, in writing and during their interview, a commitment to the experience and its contribution toward their future career as a genetic counselor.”

The program’s inaugural class of four students begins in August 2017. To learn more about the program, visit their website.


In 2012, Indiana State University (ISU) created The Center for Genomic Advocacy (TCGA) with the goal of advancing research, education, and a genomic advocates community. Striving to accomplish these goals TCGA developed ISU’s genetic counseling program.

Photo credit: indstate.edu

Photo credit: indstate.edu

When Megan Tucker, MS, LCGC, was approached about the Program Director opening she was “very excited and a little overwhelmed”. She has always enjoyed teaching; within five years of becoming a certified genetic counselor, she set a goal of becoming a genetic counseling program director. Her first year in the new role was spent “working with the faculty and leadership at ISU to finalize our accreditation application, build the content of courses, and identify clinical rotation sites.” One of the largest difficulties Tucker has experienced was identifying clinical rotation sites, “Our local city does not have a strong foundation of genetic counseling services; in fact, there are no genetic counselors within 50 miles. Therefore, we had to design a curriculum that would allow students to travel great distances for their rotations. I have reached out to hundreds of genetic counselors seeking sites that can accommodate students. With so many clinics understaffed, that was and continues to be a significant hurdle.”

This obstacle, however, has created a unique aspect of ISU’s program, their affiliation with over 30 different institutions across the country. Local locations in Indiana include Peyton Manning Children’s Hospital, Parkview Hospital, Beacon Medical Group, Deaconess Women’s Hospital, and St. Joseph Health System. Out of state sites reside in Illinois, Kentucky, Tennessee, Wisconsin, Virginia, Arizona, California and South Dakota. ISU’s first eight genetic counseling students finished their first year on campus in May, and are now gaining experience in their two summer clinical rotations. During the second year, students continue their experience with two clinical rotations per semester accompanied by online coursework. Within these clinical rotations, students are exposed to a variety of specialties including general genetics, pediatrics, oncology, prenatal, cardiology, industry, and other specialty clinics.

Another interesting feature of the program is their use of patient simulations. “We have access to the Rural Health Innovative Collaboration (RHIC) which allows for actors to be training and brought in as ‘patients’” Tucker explains, “All sessions are audio and video recorded to allow for discussion afterwards. This is a fantastic opportunity for us to see students in the same situation AND removes some of the pressure that a student might say something ‘wrong’ that could ultimately harm a patient.”

Visit the program’s website for additional information.


Quinn Stein, MS, LCGC and colleagues Gene Hoyme , Jay Flanagan and Casey Reismer,  founded Augustana University's genetic counseling program. Stein explains “there were a confluence of factors that motivated us to start a program, but 2013 was the year when we went from ‘should we start a program?’ to ‘we should start a program’.” A major aspect that contributed to this decision was the potential clinical training partnership with Sanford Health. In January 2014, this future partnership received a major boost when “Denny Sanford, a generous philanthropist, gave $125 to Sanford to establish Imagenetics. Imagenetics is not only intended to bring genetics (and genetic counselors) into primary care, but also contains research and educational components including starting a genetic counseling training program.”

Photo credit: sanfordhealth.org

Photo credit: sanfordhealth.org

Stein has also been closely following trends in the job market, “while we weren’t having trouble recruiting good people to work with us in South Dakota, I was beginning to notice that the list of jobs on the NSGC job postings board was growing longer and longer. It appeared the job market would be strong for the foreseeable future and that we would be serving a regional and national need.”

Serving as the Program Director was not a role Stein expected, “I had never intended to be the program director, only to ensure a program director could be successful in forging ahead and implementing their plan with adequate support. To fast forward, however, I feel quite fortunate to not only be a program director, but to be the director for this program.” Stein has nearly two decades of clinical experience as a genetic counselor at Sanford Health. He also has some institutional leadership experience through Sanford, but the educational accreditation process was new to him.

In the fall of 2016, Augustana’s genetic counseling program welcomed its first class of eight students. The full-time, two-year program is the only one in South Dakota. Student’s first year has an in-class academic focus that shifts to a richer clinical experience in their second year. During the first year all students are placed in Sioux Falls, South Dakota, whereas the second year students train in either Sioux Falls or San Diego, California. Learn more about Augustana’s program through their website and brochure.


Interested to hear about more brand-new genetic counseling programs? Stay tuned for Part II in our next episode, in the meantime read our previous episodes 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!

STEM Summer Camps 2017

Photo Credit: westgatecrane.com

Photo Credit: westgatecrane.com

School has ended, but that doesn’t mean kids’ learning should! Summer vacation provides an opportunity for kids to further explore topics of interest, such as those in STEM fields.

STEM stands for Science, Technology, Engineering, and Mathematics. Educating future generations in these fields is not only important for our country as a whole, but also for children to develop critical skills and rise up to the challenges facing us in the 21st century. Through STEM education, we can empower the next generations of thinkers and problem solvers.

There are plenty of online resources to foster learning about the STEM fields (here’s our list of free genetic educational resources). For those looking for more hands-on experiences, STEM camps are an option and widely available! Check out our roundup of STEM camps in the US to enroll in this summer.

Description: “Mad Science summer camps and vacation programs give kids the opportunity to learn about science through our interactive and hands-on science activities. Our summer science programs let children become junior scientists for the summer and embark on a series of science adventures!" Learn more here

Ages: 6-13

Location: Nationwide, find a location near you.

Description: “Active Learning Services' video game creation camps feature seven programs in all. Two introductory and one advanced Gamebuilder Video Game Creation courses, two introductory Kodu courses as well as Scratch 3D Animation and Mod with Minecraft. The programs use our custom designed curriculum and children have a blast as they learn to program a video game using step-by-step instructions while learning a bit about the history of game design, design concepts, game styles, and more! There are no prerequisites. Most programs are a half day, last one-week and a camper can select two to make a full day.” Learn more here.

Ages: 8-16

Location: Nationwide, find a location near you

Description: “Our educational programs are designed to impact young minds through fun, hands-on activities infused with the spirit of innovation. These immersive enrichment programs are led by local, certified educators and promote STEM concepts, as well as 21st century learning skills such as critical thinking, teamwork, and creative problem solving. Each age-appropriate program we offer embraces its own unique characteristics, but what ties them all together is an exciting environment with no wrong answers, a chance to brainstorm with peers, and an opportunity to build confidence in the natural ability to dream and create." Learn more here

Ages: 5-18

Location: Nationwide, find a program near you

Description: “Whether you’re an absolute beginner or a tech-pro-in-the-making, iD Tech Camps is the ideal blend of STEM learning and traditional summer camp fun. You’ll get a taste of collegiate life, meet new friends, and build awesome tech skills with only 8 students per instructor. ” Learn more here

Ages: 7-18

Location: Nationwide, find a program near you

Description: “We offer 25 Technology Workshops plus Retro Games for daily recreation and fun. Teens ages 13 to 17 learn to program using C#–the most popular programming language for creating windows applications.” Other workshops include coding, designing videogames, creating digital media, and engineering. Learn more here

Ages: 8-17

Location: Nationwide, find a program near you

Description: “A typical day at camp includes both indoor and outdoor science activities, outdoor games, and one super-fun rally! Our science stations include a long-term project that will be completed by the end of the week. Campers will work in small teams to design creative solutions to fun challenges.” Learn more here

Ages: 5-11

Location: Nationwide, find a program near you

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Description: “Learn computer science through real-world projects in art and storytelling, robotics, video games, web sites, apps and more! Spend your summer at the hottest tech companies in the world! Plus, connect with female engineers in the field.” Learn more here.

Ages: 15-16

Location: Nationwide, find a program near you

Description: “Girls tap into the power of technology, exploring leadership, entrepreneurship, and social activism along the way. Ideas take shape around café tables in a fresh, empowering setting. Whether your daughter wants to code an app for charity, design her own video game, engineer wearable electronics, or discover the secrets of cyber security, she'll create a project she's passionate about and join an inspired community of girls in STEM." Learn more here

Ages: 10-15

Location: Nationwide, find a program near you

Description: “Explore a wide variety of STEM camps and courses. Design an app, build a robot, and find your passion. Programs include game design, programming, filmmaking/photography, 3D modeling/design, robotics/engineering, music production.” Learn more here

Ages: 6-17

Location: Nationwide, find a program near you

 

Attending one of these camps or another STEM camp? Share with us on social media by tagging @mygenecounsel on Twitter and Facebook, include #STEMcamps in your post!

My Tumor Carries A BRCA Mutation. Does This Mean I’m A BRCA Carrier?

Photo Credit: afrmcblog.org

Photo Credit: afrmcblog.org

When we read about genetic testing in the mainstream media, we often think of the testing Angelina Jolie had, called germline genetic testing.  This analysis looks for genetic changes in our DNA that are found in most of the cells in our body, including cells in the blood, saliva, and cheek cells, which are generally the samples tested.  DNA is inherited from our biological parents -50% from our mothers and 50% from our fathers.  Genetic changes found in our DNA are often inherited from one or both parents and can be passed on to children. 

Another type of genetic testing has gained popularity over the past decade, and that is somatic or tumor testing.  All tumors have genetic changes that cause the cells within the tumor to grow under its own control and ignore many of the natural checks of a normal cell.  Genetic testing on a tumor sample involves gathering cells from a tumor, usually by biopsy or surgical removal, and performing genetic testing on those tumor cells.  This testing can lead to better understanding of the tumor and which therapy would be most effective.  Mutations found in a tumor often arise only in that tumor, and not in the other cells of a person’s body.  This testing is also called precision medicine or personalized medicine. Many companies, including Foundation Medicine, focus on somatic testing. 

Somatic mutations are usually not inherited – but sometimes they can be inherited.  In fact, the NCCN guidelines recently changed to include people who have a BRCA mutation detected in their tumor as candidates for germline testing.  This additional testing will help determine if they also carry that BRCA mutation in the rest of the cells of their body*. 

If a person does carry a germline mutation in BRCA:

  • he/she is at risk for the other BRCA-related cancers, and
  • can pass this mutation on to children

If a person does not carry a germline mutation in BRCA:

  • this mutation is most likely present only in the tumor. 

Germline testing would, therefore, be important to determine whether other family members are at increased risk to develop cancer, to make informed decisions about medical management, surgical- and radiation-decision making, and also to reduce the risk of developing another BRCA-related cancer.  Such testing is important to both men and women.

Keep in mind that BRCA mutations can be found in all types of tumors – including those outside the spectrum of BRCA cancers.  A person diagnosed with lung cancer, for example, could be found to carry dozens of mutations in that tumor, including a BRCA mutation.  That finding could then lead to germline testing.

Also keep in mind that there are hundreds of genes involved in tumor genetics, and BRCA1 and BRCA2 are only two of them. 

In summary, as we learn more about precision medicine and somatic genetics, we will likely learn of more and more areas of crossover that may require genetic counseling and germline testing.  

*NCCN Guidelines 2.2017.  

The CRISPR Craze

On a sunny Saturday in June, geneticists, genetic counselors, professors, researchers and students gathered at the University of Connecticut to learn about a new scientific technology that has the world talking.

This technology has become the new star in genetic editing technologies (and will quite literally be in the plot of a new and upcoming “self-titled” television show with Jennifer Lopez); it’s called CRISPR.

The term CRISPR was coined in 2002, but scientists have only been using this technology since 2012. What has CRISPR been able to do? What has it contributed to research? With the technology affecting so many areas of science, UCONN’s event focused on it’s impact on imprinting disorders, discussed below...

Photo Credit sciencemag.com

Photo Credit sciencemag.com

CRISPR stands for Clustered Regularly-Interspaced Short Palindromic Repeats, but don’t get lost in the name.  In short, CRISPR  can “delete” and “replace” genes, which is referred to as ‘editing the genome’. But did you know that CRISPR can also modify the epigenome? The epigenome is the collection of DNA modification that does not change the DNA sequence, but rather affects the activity of genes, meaning which genes will be expressed and the rate of expression.

Photo Credit: Pinterest

Photo Credit: Pinterest

Think of the genome (DNA) as a piano with the piano keys representing genes. Editing the genome would be like taking a key out or replacing one. Whereas modifying the epigenome would be like changing which notes are actually being played and how often they are being played. CRISPR technology can now accomplish both methods of editing. For a more complete explanation of how this technology works, check out our blog post, CRISPR Technology Explained.

Photo Credit: UCONN

Photo Credit: UCONN

Chris Stoddard, who operates the Human Genome Editing Core at UCONN Health, elaborates on how these two different CRISPR editing methods work,

“[In genome editing] CRISPR [Cas-9 proteins] are directing a double stranded break in the DNA, this stimulates a repair pathway. If we include DNA into this system it will use it as a template to repair this double stranded break. [To modify the epigenome] you mutate two domains in the CRISPR-Cas9 protein, it becomes ‘dead’ Cas9 and won’t cut the DNA anymore. The guide RNA is like the GPS and tells the Cas9 protein where to go. In the truck of the Cas9 protein will be the cargo, the effector proteins, which will do the work on the epigenome. You can recruit proteins to activate or silence genes.”

he UCONN Health CRISPR expert also shared the origin of CRISPR, “CRISPRs [are derived from] the bacterial adaptive immune system. They are a way for bacteria to recognize invading DNA and destroy it. Once a bacteriophage/virus infects a bacteria, and the bacteria survives, it has a memory of that DNA. A later transduction by that that bacteriophage/virus will get destroyed and the bacteria will survive again. Every time a bacteria gets attacked and survives, that bacteria incorporates a part of the genome from the bacteriophage/virus. The CRISPR locus just keeps growing. When that bacteria divides, all of its descendents contain [this information].”

Photo Credit UCONN

Photo Credit UCONN

Dr. Michael O’Neill, the Assistant Director of the Institute for Systems Genomics and Associate Professor at UCONN, is utilizing CRISPR to study autism spectrum disorder by exploring how genes on the X chromosome may play a role.

Although estimates show that roughly 1,000 genes play a role in autism, the mutations that have been associated with the condition are fairly common. Dr. O’Neill explains that it’s only when dozens of these mutations are brought together that a threshold is reached for a person to be considered on the autism spectrum.

Since this disorder affects males more than females (4 to 1), the thought is that some of the genes involved could be X-linked (an inheritance pattern affecting primarily males). To conduct his research, Dr. O’Neill is using mice cells with Turner’s syndrome, a sex chromosome disorder where females only have one instead of two X chromosomes. The parental origin of the single X chromosome in these mice are also identified as maternally or paternally derived. Armed with CRISPR, Dr. O’Neill compares the gene expression rates between maternal and paternal X chromosomes in the Turner syndrome mice cells.

Dr. Stormy Chamberlain and Dr. Marc Lalande are pioneers in researching the imprinting disorders, Angelman Syndrome and Prader-Willi Syndrome. These two disorders don’t appear similar. Angelman Syndrome patients suffer from lack of speech, seizures, development delays,  and walking and balance issues; Prader-Willi Syndrome patient’s symptoms include obesity, intellectual disability, and shortness in height.

Here’s the catch, these disorders are caused by the same genetic mutation, usually a small deletion on chromosome 15. How does the same deletion cause two different disorders? It depends on the parental origin of the chromosome with the deletion. If the deletion is on the chromosome that was inherited from the mother, that patient has Angelman Syndrome. If the same deletion is on the chromosome that was inherited from the father, that patient has Prader-Willi Syndrome. This is due to the phenomenon called genomic imprinting.

Genomic imprinting is an epigenetic occurrence in which specific genes are silenced based on parental origin of a chromosome (condensed units of DNA). Instead of genes being expressed from both chromosomes, certain genes will be silenced or inactivated on one chromosome. For example, if a gene from the father is imprinted (turned “off”) the same gene on the maternally inherited chromosome will be expressed (assembled into proteins). It’s important to note that not all genes are imprinted, only some have this effect.

Dr. Stormy Chamberlain, Assistant Professor of Genetics and Genome Sciences and Associate Director of Graduate Program in Genetics and Developmental Biology at UCONN Health, is researching Angelman Syndrome through neuron cells. These neuron cells have a point mutation in the UBE3A gene, and therefore have Angelman Syndrome. Dr. Chamberlain designed a CRISPR that specifically targets this mutation. An interesting find is that this gene (UBE3A) is imprinted in neurons, but not in most cell types.

Photo Credit: hartfordbusiness.com

Photo Credit: hartfordbusiness.com

Dr. Marc Lalande, who holds the Physicians Health Services Chair in Genetics and Developmental Biology at UCONN, is researching if he can “turn on” imprinted copies of genes in Prader-Willi Syndrome. The genes involved in these disorders are located on chromosome 15 and are imprinted or “turned off” in the maternal chromosome. Dr. Lalande is attempting to turn those genes “on” to prevent/treat Prader-Willi Syndrome. This process starts by identifying the vital genes to be which need to be “turned on”. Similar to Dr. Chamberlain, Dr. Lalande is using CRISPR on neuron cells to conduct his research. So far his experiments have worked!

If you are interested in learning more about UCONN’s genetics, check out their Diagnostic Genetic Sciences program! UCONN is also currently developing a genetic counseling graduate program and targeting a Fall 2019 opening, more details to come.