Making Histories: Tree of Life, A BRCA Conversation

Guest Blogger, Sherry Kabran, writes about her amazing new project, Tree of Life, A BRCA Conversation http://www.treeoflifebrca.org:

tree of lifeWhile in mourning, some try to cope with their emotions and loss by writing journals, going to support groups, blogging, running races, attending daily minyans, even starting cancer oriented organizations.  The women in my family found their own ways to accept the loss of Carolyn Raizes Davis, mother and sister, but together we created Tree of Life:  a BRCA Conversation guide for Passover, Shabbat and Rosh Chodesh.

Each guide helps Jews of Ashkenazi descent understand basic facts about hereditary cancer risks from BReast CAncer gene mutations.  The highlighted message is that every family should create a family medical tree, look for red flags and consider genetic testing, if appropriate.  The guides provide a Jewish setting in which to start a serious conversation that might save the 1 in 40 Jews of Ashkenazi descent, who unknowingly has a BRCA gene mutation.

This family project was our suggestion to FORCE (Facing Our Risk of Cancer Empowered) to further reach out to the Jewish community with a teaching tool.  How could we not try to help?  Carolyn passionately believed in teaching the community about BRCA gene mutation risks and worked closely with The Methodist Hospital doctors in Houston, Texas, to develop an educational program.  Her legacy was EDUCATE anyone who will listen!

My younger sister, Francine, and I decided Passover was an ideal time to have a multi-generational discussion about gathering medical histories.  We know about oranges and coffee beans on the Seder plate.  How about a tree branch, to represent the importance of medical family trees?  Each guide provides: an introduction to start the conversation, a BRCA branch symbol of family trees, a choice of videos, a medical history form to gather health information, Debbie Friedman’s Mi Sheberach prayer and suggestions for next steps.

Of course I googled “Passover & family histories” and found Chani’s post suggesting families do just that, at the Seder table!  Her blog is incredibly informative and thought provoking.  Plus, she told me to take the conversation guide idea and run with it.  Thank you, Chani, for your encouragement.

The Davis/Raizes/Kabran family hopes readers will explore the guides (http://www.treeoflifebrca.org) and decide to use one during family gatherings.  Please tell us about the experience. Also, help us save lives by sharing the website on Facebook and forwarding the free downloadable guides to family members, friends and community leaders (Jewish organizations are beginning to offer BRCA educational programs).  Your suggestions for use of the guides and ways to publicize would be greatly appreciated.

Thank you,

Sherry Kabran:   treeoflifebrca@gmail.com

A Plea to Science Writers

newspaperI read a lot of articles. Being that I work in the field of genetics, not only do I have a Google alert which sends me articles relevant to my work, I also have the benefit of my family and friends sending me articles which they see as relevant to my work. Sometimes I get the same article sent to me 3 or 4 times, because when someone comes across an article even peripherally related to genetics, they think of me, and send it along (Thanks, Dad!). On occasion I even speak to reporters who are in the position of writing some of these articles, and I try to educate them as best I can, and give them the necessary information so that they can convey it to their readership. So for all of those writers out there, those I’ve spoken to, and those I haven’t, I have a very important message for you:

You matter. Your job is so unimaginably important, you may not even realize it. You are presenting often complex scientific concepts to the community. For some, reading your article is the first time that they have even heard about the topic or the first time they have started to think critically about it. This exposure is your one opportunity, and it’s our (the medical community’s) opportunity too. Most people are not proficient in the sciences, and particularly in the realm of genetics, and much education is needed as genetics and genetic technologies become increasingly relevant in our day to day lives.  Individuals will read your article and form opinions about how your topic affects their life, based on what you write! For this reason, it is SO important that the information you present is both accurate and clear.

This may sound obvious, but sadly, I come across many articles, specifically those written about genetics, where there are glaring issues; scientific terms used incorrectly, statements made which are false, and quotes misused. As a genetic counselor, I read these articles and the mistakes drive me nuts. However, it’s the unsuspecting community who suffers from these inaccuracies, as they don’t know any better but to accept it at face value and believe what they are reading; what YOU are writing. Sometimes, when you try and “simplify” it, what you end up doing is totally missing the boat, and your work ends up misinforming the public, rather than educating them.

So, to you, science writers, please be responsible with your valuable work. Many members of the scientific community (granted, I can’t speak for everyone!) would much rather proofread your writing for scientific accuracy than see another article published which sets us back in our efforts to continue to educate the public. Use us as a resource. It will help us all in the long run, improve the accuracy of your work, and increase public access to reliable information about science, medicine, and genetics.

Running from your cancer family history

girl-running-away-clipart-frightened-man-running-clipartI recently came across a blog post by a friend of a friend. She was opening up about her recent diagnosis of cancer. The beginning of her blog was something along the lines of “I’ve been running from my family history of cancer for as long as I can remember. Knowing that all of these people in my family had been diagnosed, I just kept on waiting for the grim reaper to come and get me too. Now that I’ve been diagnosed, I guess I’m not running anymore…”

I’ve heard this sentiment time and time again, both from patients and from friends. People recognize that their family history of cancer plays a role in their own risk for cancer, and many people live with this shadow hanging over their heads. The waiting and the worrying, the fatalism of it all; the sentiment of ‘these people in my family died cancer, and I know I’m going to develop cancer too, and there’s nothing I’m going to do but sit, wait for it to happen, and try to put it out of my mind.’

I recognize that different people approach fears and anxieties in different ways, but this “wait and do nothing” approach drives me NUTS. If you are aware that you have a strong family history of cancer, there are many practical things that you can and should do, other than sticking your head in the sand. Some of these things might save your life.

  • Have regular annual visits with your primary doctor. This might be your primary care doctor (PCP) or family medicine doctor, or even gynecologist. Do not go to a doctor only once every 5 years when there is a problem. Tell your doctor if you have a family history of any medical issues. Routine preventive care can help you catch health problems before they become serious.
  • Engage in screening for the cancers that run in your family. Unfortunately, effective screening tests do not exist for certain cancers. However effective screening tests do exist for many other cancers, for example, breast cancer, colon cancer, and skin cancer, to name a few. Speak to your doctor (see #1) to find out if effective screening exists for the cancers in your family. The rule of thumb is that your cancer screening should begin 10 years earlier than the youngest case in your immediate family.
  • Stay away from tobacco. Stop smoking, and avoid second hand smoke. Smoking causes cancer. And for those who already may have a hereditary risk for cancer, smoking does not help you, my friend.
  • Consider meeting with a genetic counselor. A genetic counselor will review your family history and give you a sense if he or she thinks there may be a hereditary component to the cancer in your family. The genetic counselor will also discuss with you your genetic testing options. Finding out that you have a hereditary predisposition to cancer may provide you with a better plan for cancer screening, or risk reducing options, and will help identify other family members at risk of having the same issue. By engaging in genetic counseling, you are helping yourself and your relatives!

An example: If your mother, aunt, and brother all have been diagnosed with gastric cancer, you should be getting upper endoscopies annually, starting 10 years before the earliest cancer diagnosis. So you take my advice and you meet with a genetic counselor. The genetic counselor says that she thinks the cancer in your family may be caused by a rare hereditary cancer syndrome called Hereditary Diffuse Gastric Cancer. She recommends genetic testing for the CDH1 gene, and explains that if you in fact had a mutation in that gene, she would recommend that you speak with a GI specialist about having a prophylactic gastrectomy (removal of the stomach) since screening for gastric cancer has not been proven effective at identifying cancer at an early and treatable stage. ‘What???’ you say. ‘Remove my stomach? That sounds crazy! And so extreme!’

Perhaps, but this is how you continue to live a healthy life without the burden of stomach cancer looming.

Because in the end, you have two choices:

  • Run away from your family history and stick your head in the sand (not my favorite).
  • Turn around, face your fears, and address your cancer risk. To risk being redundant, that may be in the form of (1) finding a primary doctor and telling him or her about your family history, (2) asking your doctor to manage your screening regimen, (3) stepping up your screening regimen to be more frequent so that if you do develop cancer, you can catch it at an early and treatable stage, or (4) discussing other risk reducing strategies with your doctor to determine what makes most sense for you in light of your family history.

You do not need to die from cancer just because you have a family history of cancer. Your cancer risk exists, whether you chose to acknowledge it or not. Ignoring it does not actually make it disappear. It just takes away your ability to take any proactive steps to maximize your health and the health of your family.

Update Your Genetic Testing! A Different Perspective

to do listLast year I blogged about the importance of updating your preconception carrier screening between pregnancies since new diseases are added to the testing panels pretty often.  This is a topic I am very passionate about and always tell my patients, friends, and relatives. More recently, I started to think about the idea of “updating genetic testing” from a different perspective.

When I take family histories in a cancer genetic counseling session, my patients often tell me that a relative had cancer years ago, but he/she did genetic testing and was negative (ie- had normal results). While this information may be helpful, I often tell them that if the genetic testing was done a while ago, they may want to get more testing done since there are now better testing options in the realm of cancer genetics than there were years ago.

“Updating” in the preconception realm generally refers to adding on additional diseases to the panel, and in the cancer and pediatric realms, it can refer to repeating a test that was already done, using a different testing method with a better detection rate, or pursuing genetic testing–for different genes–that was not available at the time.

Let’s look at individuals who have strong personal or family histories of breast/ovarian cancer (“high risk”) as an example.  In 1996, ‘sequencing’ (scanning the entire gene) for both BRCA1 and BRCA2 became commercially available through Myriad Genetics, the only BRCA testing lab at the time.  At that time, we had already identified that there are three mutations in these genes that are more common among Ashkenazi Jews. Since about 95% of Ashkenazis who have a BRCA mutation will have one of these three mutations, genetic counselors would order ‘multisite’ testing (genetic testing for those three mutations only) for their Ashkenazi high risk patients. As research has advanced, new techniques with higher detection rates were introduced to the market. In 2002, Myriad added a new test to identify 5 large rearrangements in the BRCA genes and in 2006, they added ‘BART’ testing, which looks for large deletions and duplications throughout both genes. With each new technology applied to genetic testing in the same gene, the detection rate has gotten higher. Since then, genetics professionals have recommended that high risk Ashkenazi Jews who test negative for the three common Ashkenazi mutations complete additional genetic testing in the BRCA1 and BRCA2 genes– full sequencing and BART testing. Multisite testing is still used as the first step (and sometimes only step) of testing Ashkenazis, since it is likely that if one has a mutation, it is one of those three. And to take it a step further, high risk individuals who test negative for all known BRCA mutations are being offered genetic testing for panels of many genes known to be associated with breast/ovarian cancer.

So when my patient with a very strong family history of ovarian cancer tells me that her affected sister had BRCA testing in 2001 and had normal results, I feel a slight sense of relief, but I still have concerns that there is a hereditary component to the family’s cancer. I recommend that they come back in for more comprehensive testing, if possible. The same holds true for pediatric or adult patients with genetic concerns that have not been identified.

Just as family histories are dynamic, and people may develop medical issues over time, so too, the availability and breadth of genetic testing is not static and is expanding at a fast pace. I now tell most of my patients to check back with us in a year or two, because more information or more testing may be available at that time. While it may be hard to keep up, a consultation with a genetic counselor who is knowledgeable in the field might be very helpful to you and your family.  You can find a genetic counselor near you at www.nsgc.org.

Raising Awareness –a Key to Prevention

KEEP CALMA genetic counselor colleague of mine just posted the singing group One Republic’s new music video , “I Lived”. The video features 15 year old Bryan, who gives us a glimpse into living with a common genetic disease, cystic fibrosis (CF).  The lyrics to the song are an inspiration, as are the interludes of Brian speaking about his dreams for his (short) life (The life expectancy for an individual with CF is about 36 years).  I will admit that I cried when I watched it and bet some of you will too. I started to think about how amazing it is that a band with such a huge following (the video has 12,608,608 views on YouTube!) was able to make an impact on the CF world with a statement that is 5 minutes and 39 seconds.

The purpose of this blog is not to talk about CF, but I will give a brief synopsis of the condition. CF is one of the diseases that we talk about in every reproductive genetics appointment at our clinic at Montefiore.  Like SMA and fragile X, CF carrier testing is offered to all women who are pregnant or considering a pregnancy. Carriers of CF have no symptoms of the disease, but if their partners are also carriers of CF, then there is a 25% risk with each pregnancy that the child will be affected. Unlike many of the specifically Ashkenazi diseases we screen for, CF is pan-ethnic. It is estimated that 30,000 children and adults in the US and 70,000 worldwide are affected with CF. The Cystic Fibrosis Foundation has done phenomenal work in the realm of education, advocacy, and fundraising for research initiatives, and you can visit their website to learn more about the disease.

I think about all of the recent publicity for different diseases and it amazes me…This past summer’s Ice Bucket Challenge to raise awareness for ALS, Angelina Jolie’s op-ed in The New York Times disclosing her BRCA carrier status, Catherine Zeta Jones’s disclosure that she is being treated for bipolar disease, Movember’s amusing mustache-growing competitions during the month of November to raise awareness for men’s health issues, and the Cincinnati Bengal’s  recent high-profile fundraising campaign to sell Devon Still’s jersey for pediatric cancer research (his 4 year old daughter is battling cancer).  What an impact these movements have made on the world!

Young Bryan from the One Republic video, and all of these public figures, are doing a service to us by telling their stories.  Awareness and education about these diseases are not only essential to empower people to try to take preventative measures for themselves and their children, but it also plays a vital role in increasing understanding about diseases and their impact. Genetic (and non-genetic) diseases should not be taboo to discuss. So please, if you feel comfortable, share your stories. You don’t need celebrity status to do so.

The Case for Research Participation

research-participants-wanted-NEW-300x156As 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

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.

Egg Freezing-Now a Job Perk?

8886048502_44698ab556_zBig companies, such as Apple and Facebook, have recently announced that their female employees would be offered free “egg freezing.” The idea behind the process of egg freezing, or oocyte cryopreservation, is that a woman who is not ready to have children may freeze her eggs and later re-implant them in her uterus via an in vitro-fertilization process when she is ready for children.  Freezing eggs puts a halt on their biological activity and, literally, ‘freezes them in time.’

A woman’s eggs stay with her from pre-birth until menopause, so just like we get older, so do our eggs. Our eggs don’t gray and wrinkle, but they certainly age; and the aging process may cause serious issues in the chromosomes of the eggs. You have probably heard that the risk for Down syndrome (a condition caused by having an extra chromosome 21) is increased in older moms. That is because their older eggs are more prone to having errors in meiosis, the process of chromosome division.

The cost of egg freezing nears $10,000 for every round, plus $500 or more annually for storage. It seems like these large companies are finding that losing their valuable employees to maternity leave and family time is detrimental, and that women should feel encouraged to plan out the lives they want if they want to get set on their careers first. Not surprisingly, there has been a lot of buzz around these announcements from Apple and Facebook, ranging from full support to skepticism of using egg freezing for non-medical purposes (one particular piece I enjoyed reading was an op-ed in the New York Times from a few weeks ago).

While career building may be a valid motive to freeze eggs, there are other reasons a woman may consider this process. I have been asked whether egg freezing would be a good option from some women who have not yet met the man with whom they want to build a family, in case they do not get a chance to start their family until they are older. There are also medical reasons a woman may decide to freeze her eggs. For example, women who undergo cancer treatment which may be toxic to their eggs may decide to preserve their eggs before they begin their therapy.  In addition, women facing certain genetic conditions that lead to premature failure of ovarian function may also choose to freeze their eggs–some examples include those with Turner syndrome or fragile X premutation carriers. In addition, women who are BRCA carriers may opt to remove their ovaries to reduce their risk of developing breast and ovarian cancer, but may not be ready to have children. These women could freeze their eggs for a later pregnancy.

Of course I also need to mention that older women who are having babies (whether or not the eggs have been cryopreserved) tend to have older spouses. Because of the large number of cell divisions in spermatogenesis, the process of sperm development, the mutation rate in certain genes is higher in men than women, and increases with age. So we are finding that certain genetic diseases are more common in babies with older dads as well. Such diseases include certain forms of dwarfism, some types of craniofacial disorders, and some more complex diseases such as autism, schizophrenia and cancers.

The American Society for Reproductive Medicine does not recommend the use of egg freezing for purposes of delaying childbearing, since data on safety, the efficacy, and the cost-effectiveness, and emotional risks are insufficient. They say that “marketing this technology for the purpose of deferring childbearing may give women false hope and encourage women to delay childbearing.” Nevertheless, egg freezing for career reasons is a reality. But should it be?

Breast Awareness and Breast Cancer Awareness Month

Breast_Cancer_Awareness_MonthA 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.

BRCA testing for all Jews? BRCA testing for everyone?

news 2Co-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?

Follow

Get every new post delivered to your Inbox.

Join 56 other followers

%d bloggers like this: