Category Archives: Nicole’s posts

Educating about BRCA: The recurring personal questions that trickle in

BRCA questions

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.

An unexpected source of light in the Chanukah season

menorah with 8 armsI 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.

The PJGH goes camping

camp pjgh banner

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!)

 

What I learned in Pittsburgh

lightbulbA 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 10th 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.

Pink football players

iStock_000023716474XSmallI have been thinking about writing this blog for a week already, ever since National Breast Cancer Awareness Month, in all of its pinkness, hit New York in full force.  On day t minus 1, I got my pink ribbon from a representative camped out in front of the Apple Store.  On October 1, I woke up to a local news reporter getting her mammogram on the air, in real time.  A few days later, when we passed a fence in Central Park that was decorated with pink balloons, we debated whether they were for breast cancer or to mark off a child’s birthday party area.  But, the push to write this blog came after watching a football game with my son on Sunday, when he became frustrated that the pink towels tucked into the players’ pants and their sneakers were conflicting with the pink penalty flags (the NFL since has reverted back to yellow for the color of their penalty flags).

I remember reading a poignant article in the New York Times magazine section earlier this year that touched on the pinkness, dubbed by author Peggy Orenstein as a component of the “feel good war on breast cancer” promoting awareness and screening.  She argued, in part, that this should not be serving as a surrogate for the “real war” to eradicate breast cancer–one that involves making a difference for patients whose lives are most at risk, on the levels of treatments, cures, and saved lives.

My angle here is slightly different.

In 2011 there were about 240,000 new cases of invasive breast cancer diagnosed in women in the US. That’s 20,000 cases per month.  I am wondering what the scores of women who were diagnosed over the summer, or in September, feel when they see all of the pink emerge in October.  Do they think that the awareness campaigns may help other women (did it help them themselves)?  Or do they feel overwhelmed by these ubiquitous reminders of their current states?  Might they prefer that the outside world of shopping, TV, sports, the park etc. remains an escape from the reality of their current world that revolves around their diagnoses?

Don’t get me wrong, I am all for spreading awareness and literacy about genetic health, and I profess the “knowledge is power” mantra on a regular basis.  However, this month definitely raised a red flag in my mind, and gave me pause for thought about my own actions.  It’s one thing if I am talking the talk at an event centered on genetic health and its related issues.  But, in other settings, and particularly ones that are far removed from work and the work week, I really need to be more sensitized to the possibility of being in the presence of affected individuals and families, who may just want to be.

Forty Years

Operation Gene Screen

Last week I went to a retirement party for Dr. Sachiko (Sachi) Nakagawa, a former colleague of mine from my time in the genetic testing lab at Jacobi Medical Center.   When preparing for the speech I delivered at the party, I reviewed her invaluable contributions in the realm of Tay-Sachs disease screening, and I thought that you all needed to hear a bit (or maybe more than just a bit) about those.

Sachi was trained as a biochemist and ended up here at Einstein in the late 1960s for additional training after receiving her Ph.D.  In the early 1970s, she joined the group of Dr. Harold Nitowsky, who was on the verge of setting up the Tay-Sachs community carrier screening program known as Operation Gene Screen.  To quote Sachi directly, “this is how I ended up doing Tay-Sachs carrier screening till now … and nobody told us we made any mistake for the last 40 years.

Forty years devoted to Tay-Sachs enzyme screening! Hard to imagine—especially if you knew that she hardly missed a day of work or took a vacation!  Sachi must have tested tens of thousands of samples, starting with for the early Einstein screens, and then for commercial laboratories, for infertility clinics, and for Jewish genetic screening programs nationwide, including our own Program for Jewish Genetic Health.   To Sachi, the focus was never the total number of samples—each sample was treated with the utmost care, and each was tested and retested to ensure an accurate classification.

One of Sachi’s most important technical contributions was her development of the platelet assay for Tay-Sachs carrier testing. Until Sachi’s platelet test, Tay-Sachs testing of Hex A enzyme activity was being performed on serum (the part of your blood that is neither a blood cell nor a clotting factor).  While this was a good test for identifying carriers, many samples were yielding inconclusive results. I remember Sachi describing to me her “aha moment.”  While at a scientific conference, she realized that platelets (a component of the blood that is important for clotting) would be a much more homogenous sample than serum, and could possibly overcome the significant number of inconclusives.  And Sachi was correct about this.  Her platelet assay became the gold standard test that not only was a gift to the Jewish screening programs but also helped to identify Tay-Sachs carriers from ethnic backgrounds that were not 100% Ashkenazi Jewish.

Along that line, it is important to recognize that Tay-Sachs disease, in addition to in the Ashkenazi Jewish population,  also is seen more frequently in other populations including the Irish, French Canadian, and Cajun—and this is something that is often overlooked (but see also an earlier blog).  I will never, ever forget an email exchange I had with Sachi when she was asked to confirm a probable diagnosis of Tay-Sachs in a sample from a baby of Irish descent.  “There is no HexA enzyme peak,” she related, “the baby is affected with the disease.” Thankfully, we don’t see much of this anymore in the Jewish population due to the carrier screening programs, and hopefully the same trend will follow in other prone populations in the future.

A co-worker of Sachi’s told me that, on Sachi’s last day in the laboratory she said goodbye to her instrumentation and thanked it for its stellar performance.   And hearing that made me give pause for thought. The world of genetic testing is moving at rapid fire pace these days.  It is important to remember that, before DNA was discovered, and before the genes and mutations associated with specific diseases were characterized, there were biochemical genetic tests, some of which are still being used today (today we test for Tay-Sachs carriers both by looking for mutations on the DNA level and by assessing enzyme levels).  People like Sachi, who developed and ran these tests in the most dedicated manner, will never be forgotten by her colleagues.  I hope that she also will be remembered by the countless screened individuals who benefited from her expertise, as well as by the community as a whole.  Kudos to you, Dr. Sachiko Nakagawa.

Men don’t have ovaries, but…

men brcaI was at a party this past weekend and I overheard one man saying to another, “No, you don’t have ovaries.”  Mystified, I jumped into the conversation, either to get in on the joke or to provide some basic biology input.  It turns out that one of those men was saying that he wanted to go for BRCA testing, which prompted the other one’s “interesting” retort.

And thus arose my opportunity to educate what soon became a whole bunch of men!  The man who was interested in BRCA testing shared that he had a strong family history of a variety of cancers, and also knew that men could be BRCA mutation carriers.  But not too many of the other men there knew the latter.  Part of this stems from the fact that when we hear about BRCA, we usually hear about breasts and ovaries, see the color pink, and, most recently, associate all of this with Angelina Jolie (the “Angelina angle” is where the whole conversation between the two men started).

I reminded the group that men are equally as likely to be BRCA carriers as are women.  And that the chance of being a carrier is about 1 in 500 in the general population, and about 1 in 40 for individuals of Ashkenazi Jewish heritage (regardless of personal/family history of cancer).   I informed them that male BRCA carriers have increased risks of several cancer types including male breast cancer, prostate cancer, pancreatic cancer, and melanoma, among others.  Finally, I told them that BRCA carriers have a 50% chance of passing the mutation onto their offspring, be those male or female offspring. Not wanting to push my luck, but sensing that I still had a captive audience, I directed them to our Hereditary Breast and Ovarian Cancer lesson on www.GeneSights.com).

Shortly after, the conversation drifted back to party small talk.  But, I knew I had had my moment, and also my material for a new blog.

Revelations on Disclosure

to tell or not to tellI recently went to one of our Program’s educational events, where I participated as an audience member as opposed to one of the speakers. The event centered on the topic of whether, how, and when to disclose personal genetic health issues to a potential spouse (see February 2013 educational program at www.yu.edu/genetichealth/events).  The program was moderated by one of the PJGH genetic counselors, and included a panel composed of a Rabbi, a psychiatrist, and a connector (a.k.a. a professional matchmaker).

Since the program was recorded and is available online, I won’t go into many details here.  However, I thought that I would use our blog to relate some overall take home messages and then to share some comments from other participants.

The first take-home message should be an obvious one. Disclosure is essential, because any relationship that begins with the conscious hiding of personal information from one’s partner is a relationship that is not based on trust and is therefore tenuous.   The second take-home message is that everyone has issues, some of which have been recognized/diagnosed and others which have not (yet?) been.  And, we as a community should be more sensitive to and tolerant of these issues as opposed to reflexively creating stigmas or rejections around them.  I point the readers to a very poignant article on this topic in The Jewish Week, to get you started on your sensitivity building.

OK, now onto some comments.  There was a great turnout for the event, a mix of men and women of all ages.  But, before the program started, I heard from two separate audience members that their friends would have attended, but “feared that if they had come, then other people in the audience would think that there was a genetic issue running in their families.”  Being one of the organizers of the event and also being immersed in the field, initially I was disheartened by these sentiments.  But, stepping back a bit, I can sort of understand this perspective.

After the event I received a very uplifting email from another participant.  She remarked “it’s like you have discovered and opened up a whole new world of discussion, involving so many people from different walks of life who have been affected by the problem either directly or professionally…It is now ok to talk about this topic in public and try to find solutions based on common sense.”

I hope that, over time, more people will come to realize that educating ourselves and talking about issues such as these will have long-term positive ramifications not only for individuals and marriages, but also for the character of the community as a whole.

Rethinking “it’s gonna be okay”

okayLast week I had the privilege of participating in a four hour course in a simulation center.  For those of you who don’t know what a simulation center is, it’s basically a learning environment that simulates medical scenarios using robots and technologies, with the end goal being to improve patient care and safety.   The audience was physicians and nurses in the Ob/Gyn field, since the course centered on a common problem encountered during labor and delivery. And then there I was–random scientist–there primarily as an observer (but I also got the chance to do a little role playing).

It was an unforgettable experience.  And there was a plethora of observations and take home messages—here are a few (I guess those of you following my blogs have figured out that I am a list-making type of person):

1-New methods of teaching (and the right teacher!) make all the difference in absorbing and retaining the information (and also enjoying the class).  We wrote on white boards, read to ourselves, worked in small groups, heard relevant anecdotes, moved from room to room, and took advantage of state-of-the-art computer, robotic, and audiovisual technologies.

2-The ability of doctor/nurse teams to react to and overcome medical emergencies is beyond astonishing.  I didn’t really appreciate this until I saw this in the simulation, as the real-obstetrician-playing-the-role-of-the-obstetrician was literally sweating and panting as she directed her team and exhausted her procedural options on a dummy until she achieved success.

3-Premeditated plans need to be in place to deal with crisis situations, and not just ones in the simulated or real hospital settings.  During the crisis, someone needs to assume the leadership role and assign roles to others. Communication has to be maintained throughout, with frequent and unambiguous updates.  When things have quieted down, the team needs to debrief, and they also need to debrief others involved.  Think about applying this model to mini-crises that happen at home or in the office.

4-There are words that should be said, and others that should be avoided, as they relate to the ramifications post-crisis.  Specifically, our teacher repeated and repeated that, during a “situation,” healthcare professionals should refrain from telling the patient that “it’s gonna be okay,” since it is confusing during an emergency and can open up the medical team to  litigation in the event that things don’t turn out okay.  For personal reasons, I immediately related to that piece of advice and wished more physicians could hear it.  And then, when I later that morning played the role of nurse-calming-the-woman (dummy)-in-labor…what was the first thing I said? IT’S GONNA BE OKAY! I knew it was my comforting (and novice) side talking, but I still felt like an idiot.

On that note, you may be thinking now, what does this blog post even have to do with genetics?  The answer is nothing at all.  I just wanted to share how valuable it is to be able to step into someone else’s world for just a short while, to gain an appreciation for what they do and even learn a new lesson or two.

Lessons learned the hard way

hand reaching handI have never written a very personal blog before but I feel like the time is right. You see, my oldest child just was admitted to the college of her choice. So, I have a lot to be grateful for.  I am very proud that over the years I (almost) always made my family my first priority, and that I invested in each of my children according to their unique talents and needs.   I feel that I was especially sensitized to the concept of “each child being a gift,” because I lost several pregnancies over multiple years.

While my family and friends knew what I was going through, I never thought that I would be sharing this personal information with total strangers.  However, I do think that The Gene Scene is an opportune forum to mention some lessons that I have learned from my experiences:

1-      Pregnancy loss is very common.  Most of the time miscarriages occur before the woman even knows she is pregnant, where the rate is about 50% of all pregnancies.  Among those women who know they are pregnant, the miscarriage rate is about 15-20%.

2-      You may think that it’s possible to put past pregnancy losses behind oneself, especially as time marches on and if there are already or are subsequently other children in the family.  But, honestly, I still think about my losses almost every day.  Like when I pass places that vividly remind me of those difficult time periods.  Or when I hear about friends having their fifth or sixth babies. Or when I read articles about children who are the victims of child abuse and neglect.  Don’t get me wrong—I lead a very full and happy life.  But, there is a dull wound that persists.

3-      If you know someone who is dealing with a pregnancy loss and you have dealt with one yourself, offer to be there as an empathetic source of support (but do not force the issue).  I think there is a “pay it forward” concept involved here—if someone helped you, you should be there to comfort someone else.   Studies have shown that the supportiveness of the environment one is in immediately following a stressful situation can play a crucial role in healing.

4-      I have learned not to ask people if they have children, or how many children they have; instead I wait until those details are offered. On a similar note, I have learned not to say that a child “looks exactly”, or on the other hand, “looks nothing”, like his/her parents. You never know when there can be stories and associated hardship involved.

Finally, my personal experiences definitely helped in guiding my own career path towards our Program for Jewish Genetic Health.  Being able to turn something negative into something positive has undoubtedly been a major redeeming feature of my own healing process.

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