Back to the Swing of Things

Welcome back! Summer vacations have come to an end, we’ve passed the Labor Day mark, school is back in session, and we’ve reached the never ending season of Jewish holidays. We’re finally (almost) back to regular swing of things.

Here at the Program for Jewish Genetic Health, we’re also really excited about kicking off the New Year. We recently reflected on some of the projects we’ve been working on, and have realized that we have quite a bit to be proud of!

We’ve been trying to spread information and education about genetics and how it impacts the Jewish community. This past January, Estie wrote an article for the Jewish Press  talking about the importance of preconception carrier screening, and just this past August, she wrote another article explaining the importance and utility of genetic counseling. I wrote an article which appeared in the Jewish Press about BRCA related hereditary cancers and the usefulness of genetic testing.

Over the past year, we launched our GeneSights online education platform, as well as three lessons; Genetics 101, Hereditary Breast and Ovarian Cancer (BRCA1 and BRCA1), and Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis. Our next lesson:  Preconception Carrier Screening: Tay Sachs and many other diseases, has already been filmed, and we’re planning to launch it this October or November!

We’ve given numerous in-person talks and educational events in and around the NY area as well as in Memphis, TN, Chicago, IL, and Phoenix, AZ. In addition to community education, we’ve focused on educating Rabbis, community leaders, and healthcare providers about some of these important issues. We have a number of new educational events scheduled and in the works for the upcoming year!

Aside from being able to help coordinate carrier screening at our clinical offices at Montefiore, we’ve also held a community screen this year at Columbia University. Our annual community screen for Stern College, YU, and the Mount Sinai Washington Heights community is coming up soon, and will be on November 10^th, 2013 (hope to see you there!).

To me, the fall has always felt like a time of new beginnings. As I child, I loved going back to school, learning new things, and getting a fresh new start. Here at the Program for Jewish Genetic Health we have lots of new and exciting projects in the works. We’re hoping that this upcoming year will be a fantastic one for our PJGH family, and for yours.

(And to get back on my soap-box for one more minute, as I’ve done now on numerous occasions, I’ll remind you to find out more about your family medical history. If you’ll be with family over the holidays, use this opportunity to speak with them and gather this important and potentially lifesaving information!)

Our New GeneSights Lesson: Inflammatory Bowel Disease

After months of hard work, we recently launched our next lesson on our GeneSights Jewish Genetic Online Series. You’ll remember how excited we were when we launched our first lesson on BRCA1 and BRCA2 related Hereditary Breast and Ovarian Cancer. Well, we’re just as excited about our new lesson about Inflammatory Bowel Disease (IBD)!

For this lesson, we have a fantastic speaker, Dr. Judy Cho, director of the Inflammatory Bowel Disease Center at Yale, who shared her expertise about Crohn’s Disease and Ulcerative Colitis. The associated PSA, Alyssa’s story, can be seen here. Truth is, even though I have a number of friends who have Crohn’s disease, I really didn’t have any idea what it was all about until I watched Dr. Cho’s webinar.

We partnered with the Crohn’s & Colitis Foundation of America (CCFA) – Greater New York Chapter to increase awareness about IBD, and help connect those who are dealing with IBD or are trying to find out more about IBD, with a fantastic resource!

Remember, signing up for GeneSights is free, and obviously does not replace regular medical care or visits with your doctor. We hope this lesson will help inform you and your loved ones about Crohn’s Disease and Ulcerative Colitis. I know it informed me!

Come learn with us!

Introducing: GeneSights!

If you haven’t already heard, two weeks ago we launched our new free Jewish Genetics online education series, GeneSights. The GeneSights project has been in the works now for at least a year. It started with our vision of educating the entire Jewish community about medical issues which have a Jewish genetic component, and developed as we crafted a mechanism which would get the word out to as many people as possible, in the most effective way possible.

You see, the traditional models of community education, such as in-person lectures, reach a limited number of people; and although these in-person events can be successful, they can also be complicated by an endless amount of scheduling conflicts, weather mishaps, and traffic jams. Additionally, when we run an event in Teaneck, NJ, it doesn’t really help those living in Memphis, TN, or Cleveland, OH , who may have also been interested in the topic and would benefit from the education.

We got our inspiration from the up and coming world of online education, and in our effort to make this education accessible to anyone at any time, GeneSights was born! The GeneSights platform gives users access to webinar presentations by experts in the field about medical issues that have a Jewish genetic component.  Most “lessons” have a short public service announcement (PSA) video associated with them, which gives a snapshot of the condition in question, from a patient’s perspective. Additional resources about the condition and links to outside support organizations are housed on the individual lesson’s page as well.

Our first lesson is about Hereditary Breast and Ovarian Cancer. The associated PSA, Sara’s Story, can be seen here. A two-part introductory lesson, Genetics 101, is pre-loaded on the site as well, and our next lesson that already is in production is on Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis. Future lesson topics will include, Parkinson’s disease, PGD: Preimplantation Genetic Diagnosis, Blood disorders and Bone Marrow Donation, and more! (And yes, we are open to topic suggestions, and would love to hear from you!)

These online lessons are not going to replace our in-person lectures or doctors visits, but we hope that they will help create a rich tapestry of opportunities to become educated about genetics and its impact on your health, and the health of the Jewish community as a whole.

We’re extremely excited to be able to share this resource with the community! Check it out at www.GeneSights.com

Come learn with us!

Genetic Pearls: My Recent Chat with a Pioneer in Genetic Counseling

Myrna Ben-Yishay, MS, CGC, has been a genetic counselor for 37 years. After receiving her Master’s degree in Human Genetics at Sarah Lawrence College in 1975, her first job was in Tel Aviv, Israel. The field was unknown at the time and she was the only genetic counselor in the country. Upon returning to New York in 1977 she accepted a position with Dr. Harold Nitowsky, one of the first medical geneticists, at Albert Einstein College of Medicine that later transitioned to Montefiore Medical Center. She recently retired after 35 years. Over her career she had the opportunity to provide genetic counseling for pediatric, prenatal and adult patients. For the past 17 years she specialized in cancer genetic counseling. She has mentored numerous genetic counseling students, medical students, residents and fellows.

Myrna sat down to talk to the PJGH about her experience as a genetic counselor and to give advice to newcomers to the field.

1) How has the field of genetic counseling changed since you started your career?

In the 1970’s our genetic knowledge was very basic. We knew there were 46 chromosomes and thousands of genes. Based on clinical observation of families and case studies, we could determine if a disease was likely to be hereditary and provide families with verbal risk assessment. Over the years the human genome has been sequenced and 20, 000 genes have been identified. Disease causing mutations are now known for many diseases and accurate genetic testing is available to determine who is a carrier or affected with a disease. Families can now be offered precise genetic testing and have the information they need to make informed decisions.

Also, prenatal diagnosis was once limited to women over 35 in order to determine how many chromosomes a fetus had. Today first trimester screening and genetic testing for chromosome abnormalities is available for all pregnant women.

2) What are the most important traits or skills needed to be a good genetic counselor?

Among the many skills required of a genetic counselor  the most important are a solid understanding of molecular genetics and genetic diseases, excellent communication skills, and empathy.

3) What is one piece of advice you have for people who are considering a career in genetic counseling?

I would advise someone to consider becoming a genetic counselor if they are very interested in human genetics, psychology, patient contact, and excited to be in a field where new information is constantly unfolding. My career as a genetic counselor has been personally and professionally rewarding.

Thanks, Myrna!

Thinking Outside the Lines

A few weeks ago, Emily, one of my fellow genetic counselors, saw an Ashkenazi Jewish young woman and her mother for counseling. The reason for their visit was because the mother has a BRCA mutation, which means that she carries a genetic mutation which dramatically increases her risk to develop breast and ovarian cancer. It also means that each of her children has a 50% risk of inheriting the same mutation.

As in any genetic counseling session, Emily took a detailed family history. Her questioning led her to learn some new facts about the young woman: she was only half Ashkenazi, and she and her husband had already done some carrier screening for common diseases in the Ashkenazi population that could affect offspring a few years earlier, and were found to be genetically ‘compatible.’  Emily recommended that she update her panel, despite her only being half Ashkenazi, since she was not tested for the whole battery of tests that is available today. The thought of updating had never crossed her mind. The young woman also had BRCA testing on that day, which at the time, was more anxiety-provoking since its potential results carried more ramifications to her own health.

About 2 weeks later, the results were in. It turns out she was a carrier for 3 ”Ashkenazi Jewish” diseases that she was not tested for earlier! A triple carrier! Had Emily not taken the time to take the family history and think about things that were beyond what the patient came to talk about, this may have not been picked up. This story has a happy ending –the young woman was negative for the BRCA mutation (phew!) and her husband tested negative for all 3 diseases.  But unfortunately it does not always end this well.

Emily’s story makes me want to remind you that genetic information can be difficult to sort through. That is why I am encouraging you to have a genetic counselor explain it all in English and make sure all the proper testing is ordered.  Thinking outside the lines comes with proper training and therefore, if you have any concerns about your genetic health, I strongly encourage you to seek professional help in this realm. You never know.

Jewish Genetic Diseases are a COMMUNITY Problem

Of the 112 students that were screened on the Yeshiva University campus this past April, more than one third were found to be carriers of at least one Jewish genetic disease.  This demonstrates that being a carrier is not a stigma, it’s a community problem!  Fortunately, carrier screening via the PJGH is significantly more affordable than in the past, thanks to a new relationship with genetic testing company, Counsyl.  In addition, generous subsidies from Mr. Michael Stoler and the Foundation for Medical Evaluation and Early Detection makes pre-conception carrier screening even more affordable.

Our carrier screenings – coordinated through the Montefiore Medical Center/Einstein office of Dr. Susan Klugman, PJGH Director of Clinical Services and Community Outreach, include genetic counseling sessions.  Click here for more information on how to get screened via the PJGH.  Also check out a recent opinion piece from one of our genetic counselors, Estie Rose, about the importance of carrier screening.

Welcome to The Gene Scene

Welcome to The Gene Scene!

How is the field of genetics going to change the world of medicine?  What kinds of situations do genetic counselors face on a daily basis?  What kinds of ethical concerns should be taken into consideration before we all go down the “slippery slope” of genetic engineering?  What do the Rabbis say is allowable under Jewish law?

These questions are just examples of what The Gene Scene will cover.

Our genetic counselors and program directors – many of whom have clinical and academic appointments at Montefiore Medical Center, the University Hospital for Einstein, and Jacobi Medical Center – will share stories, patient scenarios and perspectives from the field of genetics.  We’ll share interesting questions that have been posed by patients and Rabbis.  We also will take stories about genetics that are in the news and provide fresh commentary on what they mean to the common person.

We hope you enjoy The Gene Scene.  Thanks for visiting!