Blog Archives

Preparing for Passover- the genetics edition

matza clipartAs 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!!

Exciting News from the Program!

group gc flyerAfter months of planning, the Program for Jewish Genetic Health is proud to announce the launch of our group genetic counseling sessions with testing for common Ashkenazi genetic diseases. This has been a long time coming and we are very excited to finally open this up to the public!

The backstory: Our program has had many successful genetic testing events at different campuses and synagogues over the years. But we have been seeing that many past participants contact us years later for an extra copy of their results because they are either in the dating/marriage or family planning stage and finally need their results for important decision-making. Pretty much every patient who calls gets an earful from me about how his or her results may be outdated, as new tests were likely added to the panel since the testing was done.

Our program leadership has been struggling with our official stance on when we believe carrier screening should be done. Since some will use their results in the pre-dating or dating phase, maybe it would make sense to recommend testing early on (think college time). But many will choose a partner and only use their results when starting to think about building a family. If those people got tested at 19 years old and will only use the results years later, chances are the testing is outdated.

The brainstorming: After much back-and-forth about this, we decided that we would not be going ‘on the road’ to campus screening events any more. We believe that the best time to get testing is before contemplating a pregnancy; and that may mean a different thing to everyone. We think that it should be up to the individual to decide when is the most appropriate time to get tested and we should not be imposing a time-frame on college students.

So how should people get tested? Until now, we have been seeing patients one-on-one in our clinical offices. In those sessions, the individual meets with a genetic counselor and a detailed medical and family history is obtained. The genetic counselor then recommends a panel of tests depending on what was reported during the session. The costs involved may differ from one patient to another since different tests may be recommended.

But for the patients who have no family history of genetic conditions or are not of mixed ancestry, the testing and genetic counseling is standard and quite straightforward. We still like the campus screening model of providing affordable and efficient carrier screening, and so we decided to try a new model of group sessions for the more “straightforward” cases.

The details: Our group sessions will be held on Fridays at 9 AM in our Bronx location. For these sessions, we are partnering with JScreen, a genetic testing group that relies on generous donors to offset the cost of testing. There will be a minimal cost for the counseling (which will likely be covered by insurance) and the total cost for testing will be $99. Pre-registration is required.

While these sessions are not a one-size-fits all, they certainly will be helpful to many. Take a look at our PJGH testing website for more information on registering for an appointment and to learn more about whether the group setting is right for you.

We look forward to meeting you!

Who You Gonna Call?

genetics bat phoneHere at the Program for Jewish Genetic Health, we do not have a formal “genetics hotline”, but we get more than our fair share of phone calls with people asking for direction or advice related to genetics and genetic testing issues in their families. We get to hear from people from all over the world and are often surprised and intrigued at how many new and interesting questions come up, including questions related to shidduchim (matchmaking and dating), genetic testing and halacha (Jewish law), and referrals to genetics specialists.  While we try our best to provide a sympathetic ear and help as best we can, sometimes my compassion gets stretched to the limit. Since I believe so strongly in the utility of genetic counseling, I find it hard to keep my cool when the caller tries to convince me that they know better or that they can navigate the genetics scene by themselves (because, really, if he/she could, why would they be calling me for help?).

Here is one representative example of a call we have fielded:

Caller: “My child had this genetic testing done, and now we’re trying to figure out how to test ourselves and what the next steps are.”

Ok. Sounds reasonable.

Me: “Who did the genetic testing for your child?”

Caller: “Our pediatrician.”

 Not ideal, but it was ordered by a physician. Let’s get a bit more information so I can figure out the next best steps.

Me: “Are you going to meet with a genetic counselor or geneticist?”

Caller: “No, we haven’t gotten that far yet.”

Hmmm ok.

Me: “How did your pediatrician decide to order that test?”

Caller: “We asked him to write the prescription, so he did, and we brought it to the lab and had the test done.”

Me: “How did you guys come up with the idea to do that genetic test?”

Caller: “Well, my child has XYZ issue and we’ve been looking into nutritional therapies, and this specific test was recommended by a member of a wellness nutrition group on Facebook..”

……..    …………   !?!?!?!?!?!?!?!?!?!?

Especially with all the hype out there about genetics and the future of medicine, it is totally understandable for parents to turn to genetics and genetic testing to try and better understand medical issues in their families and figure out more effective treatments. And in many areas of genetics, we are actually very good at doing just that! However, the DIY approach may not be the best approach, especially when the genetic testing needed is more complex and may require testing multiple genes.

Trained genetic counselors and geneticists are here for a reason! We are your friends! We are your guides to the big wide world of genetics and genetic testing. Genetic counselors are actually trained to look at your personal medical and family history and determine which genetic tests are most appropriate, coordinate testing, work through insurance coverage issues, and then explain the results when they come back. That is our WHOLE job (ok, fine, genetic counselors often do much more than this). PLEASE USE US AS A RESOURCE!  (We are here to help healthcare providers and patients alike!)

In the end, I just felt bad for this family. The parents were clearly trying to figure out the best way to care for their child- but they were trying to do it alone, without the guidance of trained genetics professionals who could have helped guide them to the right tests, and spared them some anxiety and worry in the process.

As genetics becomes further integrated into medical care, the need for access to trained professionals who can help interpret and incorporate genetic testing and genetic testing results into care continues to increase.  There are more than 4,000 certified genetic counselors in the U.S., and our numbers and impact continue to grow! Genetic counselors are your best resource to navigate the genetic testing maze which currently exists for the public, but we can only help if you involve us in the process.

You can find a local genetic counselor by visiting www.NSGC.org and using the “Find a Genetic Counselor” tool.

 

A Reminder About Carrier Status

punnett sqaureA lawsuit is now in action about a boy who was kicked out of his Palo Alto, California middle school because he is a carrier of cystic fibrosis (CF). The basis for this was that there were other families in the school whose kids are affected with that disease.  The parents of the kids with CF claimed that carriers of CF are at increased risk of ‘contaminating’ their children by exposing them to serious infections. The carrier boy’s parents are suing the school district for genetic discrimination.

There are many strange things about this story and I would like to bring them up and try to make sense of this.

  • The parents of the kids with the disease CF claimed that carriers of CF are at increased risk of ‘contaminating’ their children. This is not true at all. Let me start by reminding you what it means to be a carrier of an autosomal recessive condition. CF is common in all populations and is recessive, like the other diseases we recommend testing our Jewish patients for prior to a pregnancy. In all autosomal recessive diseases, carriers (those with one working and one non-working copy of the gene) do not exhibit any symptoms of that disease. Some studies are finding that carriers of certain diseases are at increased risk for other, unrelated medical issues, but I can not think of a single example of a carrier having any symptoms of the disease for which they are a carrier. The only concern for a carrier is if his/her reproductive partner is also a carrier of the same condition, in which case, there is a 25% chance that each of their children will be affected with the disease. It is important to note that there is a form of CF caused by milder mutations called “non-classic CF”, which is generally milder than the classic CF and may also include male infertility as a symptom; this type of CF may be mistaken for carrier-status, but they are not the same. True carriers are asymptomatic. And, one who is a carrier is not contagious (however, there definitely are grounds for separating people with certain genetic conditions  who are more prone to getting serious infections and spreading them to others with the same condition).
  • Were his parents required to share this kind of information (e.g., their son’s carrier status) with the school? No, it is not important to share this kind of information because it does not affect the health of the child—or anyone in contact with the child. I do not know why the mother disclosed this information since carrier status is not life-threatening like a nut-allergy or diabetes might be and it is not contagious like head lice or Fifth’s disease. In addition, being a carrier shouldn’t be considered a stigma. In fact, now that we are recommending carrier screening for our Jewish patients for nearly 100 diseases, we are finding that greater than 1 in 2 people are carriers. How could being a carrier be a stigma with so many people in that category!?
  • So why was the information shared? Genetic results can easily get into the wrong hands, and we must watch out for ourselves. According the lawsuit, the student’s mother had claimed that she disclosed the information on the school’s medical form and that this information was shared with the parents of the affected children. This case is an interesting one because it raises a broader issue of WHO should be seeing genetic information and HOW this information should be used appropriately. Chani wrote a really great piece about GINA, the one law that does protect those with genetic conditions from certain types of discrimination. Hopefully there will be further legislation in this realm, but in the meantime, be careful about disclosing medical information. Genetic results can easily get into the wrong hands, and we must watch out for ourselves.
  • We should be protecting the sick from dangerous and infectious situations, but at the same time, we must not forget to do our research first and learn about a topic before making assumptions. While I do not know all the details of this case, I can say that in general, we should take it upon ourselves to learn before we react.

While this incident was very unfortunate for this boy and his parents, I hope that we can learn some lessons from it. Carriers of recessive diseases should be careful in disclosing this information and should only be concerned if their reproductive partner is a carrier of the same condition. Therefore, it is recommended that carriers reveal their status to potential partners and blood relatives as well.  There is no reason to disclose this kind of information to anyone else since there is nothing to hide. (NOTE: Being a carrier of autosomal dominant conditions—in which having one mutation predisposes you or might even guarantee a disease in the carrier him or herself– is a whole other story, but let’s save that for another blog)

When TV and genetics meet: Reflections on Grey’s Anatomy and BRCA

dna tvGuest Blogger, Allison Grant, reflects on the difficult decisions patients face following the identification of a BRCA mutation. 

In the middle of January I began watching, or as I will shamelessly admit, re-watching, the television series, Grey’s Anatomy. After being wooed by the drama and attractive doctors during my first time watching, I was able to focus more on the “medicine” and on medical ethics the second time around. To my surprise and delight, an episode in season two, Let It Be, closely followed the case of a woman named Savvy who was found to carry a BRCA mutation. Although Savvy did not have cancer, she had seen ovarian cancer take the lives of her mother, sister, and cousin. Savvy and her husband traveled to Seattle to seek advice from their close friends and doctors, the Shepherds, and to decide whether or not to move forward with surgery. Although her husband disagreed, Savvy eventually opted to have a bilateral prophylactic mastectomy, oopherectomy, and hysterectomy (removing both breasts, ovaries, and the uterus). The decision was not made lightly, and was made only after considering all of the statistics, risks, and consulting with appropriate health care professionals, including a genetic counselor.

I applaud Shonda Rhimes for writing and producing this episode in a medically accurate way that, in my opinion, also did a great job of showcasing how a critical medical decision such as this one impacts interpersonal interactions and relationships. Different opinions, and the subsequent social and emotional interpersonal hardships that result, were presented through Savvy’s relationship with her husband, as well as with one of her doctors.

As I was watching this episode I was pained by the stress felt by Savvy, the tension that it created in her marriage, and the difficult anticipation of the life-altering surgeries she was about to endure. For a few seconds I questioned my unwavering belief that knowledge is power. If Savvy had not known about her BRCA mutation, she would not have been facing difficult decisions and these hardships (a fact that some people believe argues against genetic testing in the absence of compelling risk). But I took a step back and looked at this case from a wider perspective, and apparently so did Shonda Rhimes. Personally, I do believe that, in most situations (including this one), knowledge is power. I believe that medical education and awareness about one’s own health are critical components to leading a healthy life. To turn a blind eye when science is offering a chance to proactively enhance one’s health and life expectancy is a private choice, but one that I would argue is made out of fear and a lack of understanding of the risks that can be avoided with the benefit of crucial, and now available, medical information. This sentiment guided Savvy’s experience. After meeting with her gynecologist and genetic counselor, she became empowered to take charge of her health and made an informed decision that she felt was best. In reflecting on her decision she states, “I know what I’m losing. I get it. But think about what I’m gaining. My life. This gives me a shot.”

That is why I love my job–why I love working with professionals trained in genetics, who promote the sentiment that knowledge is power. We give people a shot.

Allison Grant is currently the study coordinator for the Program for Jewish Genetic Health‘s BRCAcommunity Study. She will be attending medical school in the fall. Learn more about BRCA testing at BRCAcommunity.com

Finally! A Genetic Test for Sephardi and Mizrahis Too

DNA code analysis

For years, when we got inquiries from Sephardi or Mizrahi patients about preconception genetic testing, we would respond that there is currently no testing panel as there is for our Ashkenazi patients. And we would feel bad about that because we know that, like in many other ethnicities, there are genetic diseases which are common in Sephardi and Mizrahi populations too.

When we hosted a genetic testing event at Yeshiva University in 2013, our flyer included a call-out to the Sephardi students to contact us privately and not to register for the event. Turns out, 22 interested students were disqualified from the event, and I have no idea how many actually called us to come in for private counseling and testing. My guess is zero.

Since the genetics for Sephardi and Mizrahi Jews differ by country of origin (and there many countries with Jews), genetics labs never really made it a priority to develop testing panels. After all, why should they develop tests that a tiny number of people will actually need? So we were left between a rock and a hard place; on the one hand, we encourage people to get tested for diseases common to individuals of their ethnicity, but on the other hand, we are unable to order any testing. We were essentially pushing a product we didn’t have.

This all changed about a month ago, when we started offering a new panel that was developed for Jews of all backgrounds. This new panel is made of 96 diseases; 48 of them are common in Ashkenazis, 38 in Sephardi/Mizrahis, and 10 overlap between the groups (it is a very large panel!). Here are some of the things that we have been finding since we upgraded:

  • People think they know what their ancestry is, but are surprised to find out they may be more mixed than they thought. A patient of ours could have sworn he was 100% Ashkenazi, but he came back as carrier for a disease that is common in Yemenite Jews. When he asked his grandmother if there was something he didn’t know, he learned that he had some North African ancestors!
  • The more diseases we screen for, the more likely someone will be a carrier. We used to say that about 1 in 3 people will screen positive for something. But so far, I think we have only had one patient who was not a carrier of anything on the panel. And of course, being a carrier, in general has no effect on one’s health and should not be considered a stigma.
  • Even though we have tripled the amount of diseases on our testing panel, the ‘classic’ Jewish diseases are still ‘classic.’ I would have thought that the more diseases we screen for, we would see a wider array of results, but we have been seeing that those diseases that have been on the panel since the beginning (the common ones, like Tay Sachs and Gaucher) are still the ones that we have been picking up most often.
  • We have  had a Jewish history lesson for our genetic counselors helping them understand the different migrations of Jews over the course of history, and how ‘Ashkenazi’, ‘Sephardi’, and ‘Mizrahi’ Jews came to be.

The bottom line is that carrier screening is recommended before contemplating a pregnancy for anyone that is at least ¼ Jewish. It doesn’t make a difference if one has mixed ancestry, if he/she knows that a relative tested negative in the past, or if he/she chooses to affiliate with a movement within Judaism. Our genes do not choose to be transmitted only to the “more Jewish” people. Most of the diseases on the panel are a burden on the affected person and the family and testing a couple before a pregnancy is one of the best preventative actions one can take to avoid heartache. Visit PJGHtesting.com to learn more about the testing.

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.

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