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.

PLEASE PASS THE TISSUES

Yesterday I made the whole team cry. Thankfully it wasn’t because I was making unreasonable requests related to productivity or deadlines. Instead, I had slotted off the morning so that we could all watch a movie together—Decoding Annie Parker (2013; we borrowed it from a local library). Without spoiling the entire plot for our readers, suffice it to say that the movie, based on actual events, follows a woman (Annie Parker) who has a strong family and then personal history of cancer. In parallel, the movie follows the decades of research by Dr. Mary-Claire King and her team on their road to discovering the BRCA1 gene.

We blog about the BRCA1 and the related BRCA2 genes regularly, but as a refresher—certain mutations in these genes lead to an increased risk to develop breast and ovarian cancer, among other cancer types. Additionally, BRCA1/2 mutations can be passed down from parents to offspring, and the chance of having a BRCA1/2 mutation is ten-fold greater in individuals of Ashkenazi Jewish descent than it is in the general population. BRCA “status” can be revealed by genetic testing, and BRCA mutation “carriers” have medical management options available to them for reducing the risk of developing cancers or for detecting cancers at a very early (and perhaps treatable) stage if they do develop.

It was my second time seeing the movie, and also my second time crying through it. But this time I also watched it with different eyes, since our Program has gotten more and more involved in the BRCA education and testing realms over the past two years. We talk and talk about the importance of knowing and discussing one’s family medical history. Even in the 1970s, before the concept of hereditary cancer predisposition syndromes existed, Annie Parker (and undoubtedly others like her) had the gut feeling that cancer was running in her family and that it was always lurking in the shadows, waiting to get her. And this caused Annie to live in constant fear and to obsess over things like breast self-exams, library searches, and diets.

In our times, we are fortunate to have the genetic knowledge about the implications of familial BRCA1/2 mutations and the ability to test for carrier status and to guide those who are identified as carriers. While being Ashkenazi Jewish is in and of itself a risk factor for carrying a BRCA mutation, this risk factor is exacerbated by having a family history of BRCA-related cancers. Under current guidelines from the National Comprehensive Cancer Network, being Ashkenazi Jewish and having a first or second degree blood relative (meaning a parent, child, sibling, grandparent, grandchild, aunt/uncle or niece/nephew) who has had breast, ovarian or pancreatic cancer at any age would warrant pursuing BRCA testing (along with genetic counseling). Many of us probably fall into that category but don’t realize what this may connote.

Getting back to the movie and all those tears—it’s been a really busy summer at the PJGH so far, and it was definitely a welcome change of pace to have “PJGH movie in the morning.” It was also really powerful and authentic have a good “group cry.” I think the whole experience reinforced our joint commitment to protecting the genetic health of the Jewish community and its future generations. But I still need to think about why the team is rallying for seeing Pitch Perfect together next.

PS The movie we saw (at work) was pretty graphic on multiple levels–consider yourselves warned…

Breast Awareness and Breast Cancer Awareness Month

A few weeks ago, I saw a woman for genetic counseling. She was in her early 60s, and had been diagnosed with breast cancer twice in the same breast. The first time was in her 30s, the second time was within the past few months. Before starting to review her family history, I asked her about her prior cancer diagnoses. This recent cancer diagnosis was identified on a routine mammogram, but her first diagnosis would have been before she started routine breast screening via mammography. “How did you find it?” I asked…

She then proceeded to tell me the following story: “Well, you see. I got this pamphlet in the mail with instructions on how to do a breast self exam. I had never done one before. And usually, I would throw these things out, but I figured, sure, why not? And I took the pamphlet with me into my bedroom, followed the instructions, and did a breast self exam. And I felt something. So I went to my doctor and told her that I had felt something in my breast. She said, “don’t tell me where you felt it, let me try to find it myself.” So she did a breast exam and she didn’t feel anything. So she had me show her where I felt it, and sure enough she said, ‘you know, I do feel something there. I’m sending you for a biopsy.’ And that’s how they found my first breast cancer. That pamphlet saved my life. I wouldn’t be around today if it wasn’t for that..”

In the last few years, there have been a number of controversies over the best route for breast screening. Should routine mammograms begin at age 40 or at age 50? Should women have clinical breast exams performed by their physician, and if so, how often? Should women perform self breast exams at all? As more research is being done in the realm of breast screening, different opinions have been emerging as to the efficacy of these different screening methods.

One of the interesting shifts has been away from the breast self exam in favor of breast self awareness. The idea behind breast self awareness is that a woman should be aware of how her breasts normally look and feel, so that she can report any changes to her doctor. This differs from the breast self exam, which is a structured procedure of how women should be evaluating their breasts on a regular basis. Many women feel uncomfortable doing a breast self exam, unsure of what they should be looking for. Research found that not only did breast self exams not reduce the number of deaths from breast cancer, but it actually increased the detection of non-cancerous lesions, which required further evaluation, such as a breast biopsy. This research has contributed to the change in recommendations away from self breast exams and toward self breast awareness.

But then I think about the countless stories that I have heard of women, including my patient, who found their own breast cancer by doing a breast self exam. I hear her words echoing back, “That pamphlet saved my life. I wouldn’t be around today if it wasn’t for that…” and I wonder how she would feel about the change in recommendations.

For those of us with friends or family members who have been diagnosed with breast cancer, or with personal diagnoses of breast cancer ourselves, National Breast Cancer Awareness Month can feel empowering, overwhelming, or even stifling. And with the statistic of 1 in 8 women developing breast cancer in the United States, breast cancer is a disease that should feel relevant, even if one does not have a “personal connection” so to speak. Perhaps for all those who don’t see the relevance, they can think of this October as Breast Awareness Month, and instead of focusing on this disease they can focus on the breast awareness which might someday save their lives.

Pink football players

I 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.

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!)

Angelina Jolie’s Disclosure: Perspectives from a 20 Year Old

Guest Blogger, Elana Bengualid, writes about her thoughts on the “Angelina Effect“:

Angelina Jolie is one of the world’s most prominent actresses, and is also a statistic of the 1 in 500- 1 in 800 people who have an increased risk of developing breast and/or ovarian cancer due to a mutation in the BRCA1 or BRCA2 gene. Therefore, when she valiantly shared her story with the public it undoubtedly created an immediate medical and cultural phenomenon.

It is evident that Jolie has inspired many to be proactive about their genetic health as the labs that test for the hereditary breast and ovarian cancer mutations have experienced a dramatic increase in the demand of test orders since her story was published in The New York Times in May. Most notably, Jolie’s decision to undergo a double mastectomy consequently led to about 250,000 Google searches on the prophylactic surgery in just one day, greater than the amount of people who will be diagnosed with breast cancer each year. Jolie’s story is empowering for she was courageous in taking appropriate steps to decrease her risk of breast cancer from 87% to about 5%, and through her journey she was able to change the image of this somewhat daunting process by exuding confidence, and becoming a public example which others can emulate.

However, at what age should one confront this information? How will Jolie’s actions influence young men and women who have similar family histories of breast and ovarian cancer? It is important to note that genetic counselors do not normally recommend that a person get tested before the age of 25. Recommendations for screening and preventative surgeries for high risk start at the age of 25, for the patients would not be able to do anything with the information except process and share it with family a member (which is important too!).

As a summer intern for the Program for Jewish Genetic Health, I was privileged to able to shadow the genetic counselors. One of the cases I observed was counseling for a 23 year old woman whose mother had passed away from breast cancer at age 39. The patient had been waiting to get tested for the BRCA mutation since her mother’s diagnosis, four years prior. Although young for testing, the patient was mature and her determination to confront this situation with the utmost diligence was admirable. Seeing the strength with which this young woman, three years older than I, pursued genetic counseling was inspiring. She was empowered to be proactive about her health, and that unwavering resolve is a quality that everyone, no matter what the situation, can learn from.

Personally, I do feel that it is extremely important to know if an individual is a BRCA mutation carrier not only for that person’s health, but also for their family members’ health. Regardless of what is considered the “right” age by medical professionals, certain individuals may be emotionally and psychologically ready to undergo testing at an earlier age. For these young women, it is amazing to have a public figure like Angelina Jolie serve as a role model and give them someone to relate to who has already experienced this, and persevered with grace.

Elana is a summer intern for the Program for Jewish Genetic Health. She is a junior at Barnard College and is majoring in Spanish and Latin American Cultures. 

Disclosure, Part 1: To Tell or Not to Tell, That is the Question

From my perspective, the answer is a resounding YES. Disclosure of genetic information to family members is crucial; after all, your family shares a portion of your genes. This information could be life-saving! If we identify a genetic risk factor for you, it means that other family members very well might have a same risk factor. If we pinpoint who in the family is at risk, those individuals can start appropriate screening or treatment before they develop disease, hence, ‘life-saving’.

For example, your Aunt Claire was diagnosed with breast cancer at age 46. She goes through genetic counseling and genetic testing and is identified to have a BRCA mutation. However, she doesn’t want to tell anyone about it because she feels uncomfortable discussing her cancer diagnosis and the genetics results. Maybe she feels ashamed or doesn’t want people to know and think of her differently. 10 years go by and Aunt Claire is doing fine, but finds out that her niece, Jessica, (your cousin) was diagnosed with breast cancer at age 30. She hadn’t been doing any cancer screening aside from her self-breast exams, so by the time the cancer was identified, it was already at a late stage and not easily treatable. Jessica’s older sister, Melissa goes in for a mammogram after her sister’s diagnosis, and is diagnosed with an early stage breast cancer at age 34. Jessica and her Melissa both have genetic testing and are identified to have the same BRCA mutation as their Aunt Claire. Jessica’s breast cancer however is too extensive, and she dies from her breast cancer at age 30. Melissa’s cancer was caught at any early and treatable stage, and she makes a full recovery.

So you see, this situation could have been preventable! This is how I’d like to hear this story told:

Your Aunt Claire was diagnosed with breast cancer at age 46. She goes through genetic counseling and genetic testing and is identified to have a BRCA mutation. Even though Aunt Claire feels uncomfortable about sharing her genetic results, she decides that since this information can have practical implications for her family members, she shares the information with her family. Your mother, and your Uncle Bobby (Jessica and Melissa’s dad) both undergo genetic testing for Aunt Claire’s BRCA mutation. Your mom’s results are normal (ie- she doesn’t have it, and she and yourself are not at increased risk for breast cancer). Uncle Bobby does carry the same BRCA mutations, which means he’s at increased risk for male breast cancer, prostate cancer, and pancreatic cancer, and his three daughters, Melissa and Jessica each have a 50% chance of having inherited the same BRCA mutation. Melissa at this point is 23 and Jessica is 19. Neither of them are ready to be tested yet, but once they each turn 25, they start screening for breast cancer with both mammogram and breast MRI. (We will treat them as if they were high risk until proven otherwise.) When they’re ready, Melissa and Jessica all undergo genetic testing. Melissa and Jessica find out that they both have the same BRCA mutation that’s running in the family. Melissa and Jessica continue their breast screening and one by one their breast cancers are identified, for Jessica, at age 28 and for Melissa, at age 34. For both of them, their cancers are caught at an early stage, treated, and they each get to go on and continue to lead healthy and productive lives, while continuing their breast screening, of course.

I recognize I’ve simplified these situations quite a bit. This however is only the “why.” The “who,” “what,” “where,” “when,” and “how” of disclosure? Those are all very good questions, and a completely different story.

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.