Preparing for Passover- the genetics edition

As everyone else in the Jewish world is gearing up for Passover by cleaning, cooking, and planning their Seders, I am thinking about how to best convince you to use the opportunity of a holiday to discuss your family health history!

Hopefully, I no longer need to convince you that gathering information about your family medical history is a worthwhile activity, but If I do, I will remind you, that far better than any genetic test, your family health history can help you and your healthcare providers determine what medical issues you are at risk for, and subsequently, how to best care for you.

Almost a year ago, we told you about a great new resource to help you start the conversation specifically related to histories of breast cancer. You can learn more at http://www.treeoflifebrca.org/

You can also use this family history tool created by the Surgeon General, or these guidelines to learn what questions to ask, and how to take your own family history. Some additional instructions or family history guides can be found on the NSGC website here.

We know that discussing your family medical history may feel like an uncomfortable and nosy task, but your family medical history is part of your heritage and has major implications for your own health, and the health of your family members.

Wishing you a happy and healthy Passover, from the Program for Jewish Genetic Health!!

Educating about BRCA: The recurring personal questions that trickle in

January 2016

Reflecting on 2015, we realized that the Program for Jewish Genetic Health gave around 40 live talks over the course of the year, to a wide variety of target audiences (not to mention the online “lessons” we release on MyJewishGeneticHealth.com to a worldwide audience). In thinking about the talks I personally have given over the last few months, I realized that many times the questions come after the Q&A portion, even weeks after. Sometimes the “asker” was aware of the fact that their question was too personal in nature, other times the asker may have thought their question would seem naïve. Occasionally, the asker has been thinking for a while about the topic and comes up with an inquiry that is rather deep.

Here are two examples of recurring personal questions that I have received after my BRCA-centered talks.  As a brief review, mutations in the BRCA genes predispose women and men to developing certain kinds of cancers including breast, ovarian, pancreatic, and more. BRCA mutations can run in families and be inherited by children.  Women and men who are shown by genetic testing to carry BRCA gene mutations have options to reduce and manage their cancer risks. About 1 in 40 individuals of Ashkenazi Jewish descent are believed to carry a BRCA mutation, even if there is no significant incidence of BRCA cancers in their families.

Question 1: My grandmother had XX cancer and my aunt had XX cancer. Do you think I need to consider BRCA testing?

The answer to this one is easy—I always remind the asker that I am not a genetic counselor or a genetic healthcare provider, and I advise them that they should consider meeting with one of those professionals to discuss their family cancer history. A good online resource for finding a genetic counselor anywhere in the US and Canada is http://nsgc.org/p/cm/ld/fid=164 (make sure to search under the ‘cancer’ in ‘types of specialization’). I also advise them to try to collect as much family cancer history information (including cancer type and age of diagnosis) as possible, so that if they ultimately decide to pursue genetic testing for hereditary cancer, the most appropriate (and most current) test can be ordered based on that family history.

Question 2: Given the 1 in 40 carrier rate of BRCA mutations in Ashkenazi Jews, have you yourself gotten tested?

For a long time, the answer was no, I am just not ready. The decision to pursue genetic testing is a very personal one, and several factors need to be considered including whether the timing is right to deal with the knowledge and its implications. More recently, the tides have turned for me, in part due to two comments that reverberate in my mind and heart. The first is something one of our Program genetic counselors likes to say–“Finding out that one has a BRCA mutation doesn’t change anything about whether that mutation is there or not…finding out allows an individual to be empowered to consider available options.”  The other is a sentence from a recent New York Times piece by the author Elizabeth Wurtzel after her cancer diagnosis and ensuing surgery and chemotherapy—“I could have avoided all this if I had been tested for the BRCA mutation.”

Part of me appreciates that audience members reserve their very personal questions at the end of (and especially during :)) my talks, since usually these questions do not have generalizable value. Maybe though, in the realm of genetics and cancer prevention, every “story” has the potential for a broadly relevant take home message.

Mental Illness Awareness Week and New Lesson!

With the support of the Jewish Federation of Western Connecticut, we are grateful to be able to launch our newest lesson on MyJewishGeneticHealth.com addressing issues of mental health and mental illness in the Jewish community during Mental Illness Awareness Week. This lesson has been many months (and even years) in the making, and here’s why.

Since we launched MyJewishGeneticHealth.com back in May of 2013, we began getting requests to address mental illness in the Jewish community. While we had identified mental illness as an important issue to tackle, it was honestly a bit daunting, and we wanted to get the lesson right. Month after month, we would opt to develop other lessons, since we weren’t quite sure about how to approach mental illness on our online education platform. However, whenever we came across a particularly striking article or useful resource on the topic, we filed it away, hoping that it would come in handy once we were ready to prepare our mental illness lesson.  And the requests kept coming in.

At first, we tried identifying an expert lecturer who could do it all. We wanted it to be a person who could approach mental illness in a sensitive and community-oriented way, yet still speak about the hereditary components to mental illness. Finding such a person felt almost impossible. We finally realized that we didn’t need just one person, but similar to someone suffering from mental illness, we needed a team. So we changed up our model, and were able to identify three different expert lecturers to approach mental illness from different perspectives: the psychologist/community perspective, the genetic counselor/hereditary perspective, and the mental illness advocate/personal perspective. We really hope that listening to their videos is informative, eye-opening, and inspiring.

And that repository of articles and resources? Oh we went through that too. Days were spent poring over articles, listening to personal experiences, identifying and speaking to support groups, and becoming entrenched in the world of mental illness. It is heavy, and yet, unbelievably important.

About 1 in 5 (20% of) adults in the U.S. experience a mental illness. These numbers are not anticipated to be much different in the Jewish community. Mental illness is VERY common, and unfortunately, there is a still great deal of stigma in the Jewish community associated with mental illness, stemming from concerns about marriageability. This lesson is not just for those who suffer from, or have suffered from mental illness, it is for the whole community. Chances are, even if no one in your family has suffered from mental illness, one of your friends, neighbors, or co-workers has. As with most things, a little bit of education, awareness, and understanding can go a long way. Ignoring the issue doesn’t make it go away, it just means that as a community we are not addressing it, and people aren’t getting the help that they need.

We decided to launch this lesson during Mental Illness Awareness Week and around World Mental Health Day, which this year, falls on the heels of the Jewish holiday season. Preparing this lesson has given us at the Program for Jewish Genetic Health a great deal of perspective and has made us take pause to consider how deeply some in our community are suffering.  Our hope is that this lesson will stick with all of us as we exit this season of introspection, and that there will be takeaway lessons that can have an impact on individuals, families and the greater Jewish community.

The Case for Research Participation

As part of my training to become a genetic counselor, my graduate program had us participate in a Research Rotation. No, we didn’t sit behind microscopes and make scientific discoveries. A large part of this rotation was following around research assistants as they attempted to consent patients in a medical center to participate in a biobank. A biobank is basically a collection of DNA samples that can be accessed by multiple researchers in the institution. What was cool about this particular biobank is that  it was hooked up (in a deidentified way) to the participant’s medical record. So, researchers were able to see what medical issues developed over time, what interventions worked, etc. for this particular participant. It was a way that the researchers could have up to date clinical information in a secure and private way, without constantly bugging the research participant for an update on his/her medical history.

So, as a student, I tagged along as the research assistants attempted to recruit patients who were already getting their blood drawn for another reason, to just have one extra tube drawn, and consent for participation in the biobank. I was surprised by how many people said no. Some did not want to have an extra tube of blood taken. Some didn’t want anyone to have access to their medical information, even in a deidentified way, and some just didn’t want to participate in research altogether.

Even now, through my interaction with patients, I see the spectrum of how individuals view participating in research. I’ve had patients say, “Sure, why not?” when asked if they want to participate in research. I’ve had other patients even request that their samples be used for research, even if we are only conducting clinical testing. Then there are those that don’t trust the genetic research process and don’t want their samples or results getting in to the wrong hands. Especially when there is no direct benefit to them for participating, the choice is often to forgo participation.

Participating in research is always a personal choice, and one should never feel that they are being coerced to participate, However, I’d like to encourage you that if you are given the choice to participate in research, if participation is not a burden, then please consider doing so. This may be as simple as spending 10 minutes answering questions in Survey Monkey for a student’s thesis or dissertation research, or allowing a lab to use the remainder of your blood sample for deidentified research following a clinical test. Especially when it comes to genetic research, the only way that we will progress in our knowledge and understanding of the genetic basis of disease, genetic variation in different populations, and the effects of genetic awareness and education on the public, is if individuals from various populations participate in research. Your participation is necessary to grow the field of genetics, the understanding of our genomes, and the role of genetic testing in the public arena.

An unexpected source of light in the Chanukah season

I spent last Wednesday morning attending a conference on Rett Syndrome at Einstein. Let me start this blog by saying that Rett Syndrome is not a “Jewish genetic disease.” In brief, it is a neuro-developmental disorder that primarily affects girls, in which they start to develop normally but then lose motor functions and also develop seizures, cognitive disability, and a host of other symptoms (learn more about Rett Syndrome here). Rett Syndrome is caused by mutations in the MECP2 gene which is located on the X chromosome.   A friend of mine asked me what prompted me to attend this specific conference, given my current focus on Jewish genetics. I told him that I love to learn, I was impressed by the lineup of clinical and scientific expert speakers, and I knew that a lot of the Einstein genetics people would be in the room. In the end, these factors paled in comparison to what left the biggest impression on me that day—the presentation by Monica Coenraads, whose teenage daughter Chelsea is affected by Rett Syndrome.

Monica began her presentation by showing home-video footage of Chelsea’s first four years.  During the first year, there were the typical clips of first smiles, first solid foods, first rolling over.   After that…the realization that milestones were not being met, Chelsea’s developmental regression, the search for a diagnosis, the fear of that diagnosis, and then the adjustment to living with the diagnosis.  Monica’s presentation continued with an eloquent overview of the syndrome, in which she interposed videos of Chelsea manifesting many of the symptoms.  She also showed Chelsea’s educational and therapeutic support teams, and a massive amount of Chelsea’s specialized equipment and furniture.  It was clear that Monica has not left one stone unturned in her care and support of Chelsea, in the context of her entire family (and she even brought the whole audience to tears as she described how Chelsea was able to express, with the help of a communication device, that she wanted to attend a prom and then was able to do so escorted by her brother).  On top of all this, Monica has made a huge impact on the global Rett syndrome scene, in part by establishing two foundations that fund research for Rett syndrome treatments and cures.

Several of the scientists who presented at the conference specified that Monica Coenraads motivates them in their research endeavors and prompts them to push their creative limits further.  From the brief encounter I had with Monica (i.e., watching her powerpoint presentation in a dark auditorium), I see Monica as a source of light.  Monica and other parents of children with disabilities and genetic diseases restructure their expectations, perspectives, and daily lives because of these children.  Sometimes it takes people like Monica to help us parents re-calibrate with respect to what think we can/cannot handle and also re-invigorate for new undertakings.

May the spirit of Chanukah give strength to parents and caregivers like Monica, as well as shed light upon research efforts aimed at finding cures.

BRCA testing for all Jews? BRCA testing for everyone?

Co-written by PJGH genetic counselors Estie Rose and Chani Wiesman

This week was a very busy and exciting week for us at the Program for Jewish Genetic Health (PJGH)!  Late last week, the New York Times published two articles describing the findings and ramifications of published research conducted by renowned geneticists in the US and Israel. The first article describes a study done by Dr. Ephrat Levy-Lahad at Shaare Zedek hospital, who concluded that ALL Ashkenazi (Eastern European) Jewish individuals should be tested for BRCA mutations—not just those individuals with family histories of breast and/or ovarian cancers. Since about 1 in 40 Ashkenazis will carry a cancer-predisposing BRCA mutation, genetic testing was suggested for everyone at a young age.  Then, in case a mutation is present, it is better to find out at a preventable stage.

The second article quotes the scientist who discovered BRCA’s association with cancer and who partnered on the Israeli study, Dr. Mary –Claire King. Dr. King’s statements took this one step further, as she called for screening all American woman 30 or older regardless of race or ethnic background—not just Ashkenazis!

Our inboxes have been flooded and the phones have been ringing all week with inquires about these articles.  So how do we feel about these statements? If you have been listening to the news, the media made it sound like these are new ‘guidelines’ or ‘recommendations,’ but we prefer the word ‘opinions.’ These opinions come from a good place, where people want to prevent illness, but they are also somewhat controversial and may be considered by some to be extreme.

For starters, we think it is important to take a step back and spell out what’s so important about BRCA in the Jewish community.  After that, we will get to the “PJGH response” to these studies.

We have spoken about BRCA many (many, many!) times in this blog, but we never actually told you why it is related to the Jewish community (our oversight!). BRCA1 and BRCA2 mutations (mistakes in the genes) cause a significantly increased risk for breast and ovarian cancer, as well as some other cancers.  Just like there are certain mutations for other diseases that are more common in the Ashkenazi Jewish population, there are three specific mutations in the BRCA genes that are more commonly found in the Ashkenazi Jewish population. Numerous studies have found that between 1 in 40 and 1 in 100 Ashkenazi Jews will carry one of those three BRCA mutations and are therefore likely at an increased risk for cancer. If someone is Ashkenazi Jewish and has a BRCA mutation, the vast majority of the time, it is one of those three mutations. Furthermore, that 1 in 40 – 1 in 100 carrier frequency holds true regardless of personal or family history of cancer. So if you take any random group of 100 Ashkenazi Jews, 1 or 2 of them is likely to carry a BRCA mutation, even if he/she doesn’t have a personal or family history of cancer.

This is a big deal, and it’s a huge community issue.

So what is our current response?

• We are constantly speaking about this topic to the public and its leadership at educational events. Be sure to register for our upcoming panel discussion about this exact topic, on November 3^rd at the JCC of Manhattan. Admission is free!
• We have created an educational website, BRCAcommunity.com. Check it out if you think testing may be right for you.
• Stay tuned for more to come. We have a lot of interesting and exciting initiatives in the BRCA realm in the near future!

The PJGH goes camping

As a scientist, I am used to running experiments, and, par for the course, oftentimes these experiments fail. I am pleased to blog here about an experiment we ran this past week at Einstein that proved to be a huge success! Specifically, the Program for Jewish Genetic Health (PJGH) ran its first ever Jewish Genetics Bootcamp, and for this endeavor I temporarily changed my role from Program Director to Camp (co-)Director (along with our two amazing PJGH genetic counselors Chani and Estie).

The camp was envisioned as a mechanism to introduce high school and college students who have expressed future career interests in genetics to the field (from the PJGH perspective). While students in this category sometimes intern with us or alternatively are mentored by us in more informal ways, unfortunately we cannot accommodate all requests for this. Camp, or more appropriately bootcamp (keep reading this blog…), was our three-day solution to this problem.

We decided to keep the inaugural group of campers small, since we thought this would facilitate interactions between the campers and the staff. Fortunately, the campers who joined proved to be outgoing, inquisitive, and insightful—which led to lots of questions, discussion, and debate. We even picked up 2 crashers!—undergrads who happened to be on the Einstein campus for summer research programs.

Camp PJGH centered around half-day sessions, presented by Chani and Estie, on three main topics: clinical genetics/genetic testing, Jewish genetic diseases that can affect offspring of carrier couples (e.g., Tay-Sachs and Familial Dysautonomia), and inherited cancer predisposition syndromes (e.g., hereditary breast and ovarian cancer syndrome due to BRCA). Another more future-looking session was entitled “Expanding panels, expanding ancestries, and expanding technologies.”

Aside from these formal sessions, we also exposed the campers to a variety of genetics professionals—a genetic counselor, a PhD scientist, an MD reproductive geneticist, an MD pediatric geneticist, and an MD fertility specialist. The presenters reviewed their training paths, shared what their typical workdays look like, and divulged their most/least favorite aspects of their jobs. The campers were intrigued by the fact that many of us have had “turning points” that have resulted in the refocusing of career paths. For me in particular, my transitions have been from research scientist to clinical laboratory scientific director to PJGH program director. When describing the last transition, I was really able to convey how my journey has led me to a remarkable endpoint where I am able combine my scientific background with the service of the Jewish community.

Finally, during the camp’s self-study sessions, the campers were guided through current newspaper articles that were a little more controversial in nature—addressing questions such as should healthy adults (or even healthy babies!) undergo whole genome sequencing, or should all Ashkenazi Jewish individuals be tested for the common BRCA mutations. And, for night activity (okay, it was really homework), the campers were encouraged to visit selected websites including our very own online learning platform, and also were provided with some on-theme book and movie recommendations.

And the experimental result and conclusions are already in. In the campers’ anonymous post-camp evaluations, camp was deemed a big hit! One camper even remarked “it made me realize how much awareness needs to be raised, and how much I want to be involved with genetics in the future.”

I am looking forward to a reunion with season 1 campers, and to planning for season 2!

P.S. And yes, we most definitely had s’mores. But there were no tents and it wasn’t a sleepover camp (although one camper remarked that next time we run a bootcamp, it should be longer than 3 days!)

 

New Lesson! New Name!

If you haven’t yet heard, last week we launched our new GeneSights lesson about Preimplantation Genetic Diagnosis (PGD). Well, I should say, it’s not a GeneSights lesson anymore. After listening to the feedback we’ve been getting, we decided to change the name of our online education series to one that can be more easily recognized and understood. Welcome to MyJewishGeneticHealth.com!

Our new lesson on PGD is a very exciting one, and one which we hope will be a valuable resource to the community. Our speaker, Dr. Harry Lieman, is the Director of the Division of Reproductive Endocrinology and Infertility at the Albert Einstein College of Medicine, as well as the Director of Montefiore’s Institute for Reproductive Medicine and Health, and the Liaison for Fertility and Reproductive Technologies at the PJGH.

Our PSA, Robin’s story, can be seen here. Speaking with Robin and understanding her story was pivotal in understanding why we needed to develop a lesson about PGD.

As was true for GeneSights, signing up for MyJewishGeneticHealth.com 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 the process and utility of PGD!

Come learn with us!

What I learned in Pittsburgh

A few weekends ago, I traveled with two other leaders of the Program for Jewish Genetic Health (PJGH) to Pittsburgh, where we were scholars-in-residence for the “Mikey Butler Yahrzeit (memorial) Weekend.”  Mikey Butler succumbed to cystic fibrosis and complications of its treatments when he was 24 years old.  His parents, Nina and Danny, wanted to organize an event in his memory on the 10^th anniversary of his death.  Being that Mikey loved his alma mater Yeshiva University, and being that he was “into” genetic testing and technology, having PJGH speakers for this weekend made a lot of sense.  On top of this, we ourselves had experience in “distant Jewish community-based genetics weekends,” as we had a great visit to the Memphis Jewish community in December of 2012.

Mikey’s mom, Nina, mobilized a large segment of Pittsburgh’s Jewish community for the events of the weekend—from doctors to high school students, from grad students to synagogue members and friends.  We gave talks on the myths associated with Jewish genetics, on the future of genetic testing, on the issues of stigma and disclosure as they relate to health, etc.  We heard really nice feedback—things like, “we came because the Butlers are our friends, we didn’t realize the field is so fascinating” and “you left the whole community buzzing.”  And the Pittsburgh folks are already starting to reach out to the PJGH:  a college student whose mom attended a talk called for career advice, a community educator asked for access to our educational videos.  It is estimated that we spoke to around 600-700 people over the weekend—that’s a lot of awareness and teaching over a really short time frame.

But, on the topic of teaching, I myself learned a lot that weekend too.

First, is what I learned from the Butlers.  I learned what it takes to mobilize a community—and I don’t just mean to get sufficient audience members into the room for an event.  There were countless organizations and multiple synagogues involved as sponsors for each and every session—all banded together for this, all of their differences put aside for this.  I also thank the Butlers for teaching me what an “open home” really looks like, for teaching me about family dynamics, for teaching me how one communicates about a child after the loss of that child, and more.

Second, is what I learned about myself—and actually it was Danny Butler who pointed this out to me.   By training I am a molecular biologist, but now primarily I am involved with education/outreach in the field of Jewish genetics.  But, in any of these capacities, when I think about the actual science, I do so through a lens of my Jewish beliefs.  I am simply awed by God’s creations, and this is especially marked when I am observing these creations at the level of the genome.

I am definitely going back to Pittsburgh.

Genetic Screening Sunday

Most of my Sundays involve errands, and then some dedicated time to relaxing and recharging before the upcoming week. This past Sunday I spent ~8 hours at a screening event that we ran at YU, open to Yeshiva College and Stern College students and alumni, and community members in Washington Heights. Registration opened ~3 weeks ago, and we were almost at capacity within days. We ended up screening ~140 individuals (not too shabby if you ask me!).

Screening events such as this one are really great, but also very challenging. They are great because it enables a large audience to benefit and pursue carrier screening in a convenient and centralized location. Screening events are challenging because of all the planning, coordination, and logistics which are involved in counseling and testing literally hundreds of people at a time.

One of the things which made this event run so smoothly is a new video we created as a tool to teach people about Jewish carrier screening. We decided to make this short video around the same time that I filmed the video for our new GeneSights lesson about Preconception Carrier Screening. Some of the more amusing parts of the day were all of the “You’re the woman from the video!” comments that I got. You can access the full GeneSights lesson by signing up and signing in here.

Even though it was a very long day, luckily, we had a ton of help! Special thanks to all our physicians, genetic counselors and genetics fellows, volunteers from the YU Medical Ethics Society, volunteer genetic counseling students, and our phlebotomists! (Anna, Ariella, Aryeh, Avi, Barrie, Carol, Chana, Chris, Emily, Jon, Mickey, Pauline, Sam, Sara Malka, Sara Malka [yup there were 2], Shirley, Susan, Tehilla, Temima, Yocheved, and Yosef). We could not have done it without you! A big thanks to Estie Rose, our genetic counselor who organized the event. The day went so smoothly, and in my opinion, was a big success. Now it’s time to wait for the results and begin the never ending process of follow up. Since 1 in 3 Ashkenazi Jews is a carrier for one of the conditions we screen for, I guess we’ll be expecting ~47 carriers from this screening event. That’s a lot of follow up!

If you missed the event but would still like to be screened, check out these great instructions on how!