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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 Pretty much every patient who calls gets an earful from me about how his or her results may be outdated, as new tests were likely added to the panel since the testing was done.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 If those people got tested at 19 years old and will only use the results years later, chances are the testing is outdated.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!

Educating about BRCA: The recurring personal questions that trickle in

BRCA questions

January 2016

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

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

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

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

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

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

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

PLEASE PASS THE TISSUES

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…

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?

August is “SMA Awareness Month”

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In an attempt to express interest in my career, my husband likes to send me interesting links to news stories and videos that relate to genetics. He likes even more to send me links to his fantasy baseball players’ accomplishments. This week was his crowning achievement, as he sent me one that combined genetics and baseball. It was a video and article from ESPN.com about a 6 year old boy and his twin sister, both of whom have spinal muscular atrophy (SMA). The boy’s dream was to play for the Arizona Diamondbacks. The video is incredible and is a real tear-jerker!

If you or your partner has been pregnant in the past few years, you might have heard of SMA since your OB/GYN may have offered you genetic testing for this condition. SMA is an inherited disease of the motor nerves that causes muscle weakness and atrophy (wasting). Motor nerves arise from the spinal cord and control the muscles that are used for activities such as breathing, crawling, walking, head and neck control, and swallowing. So if the motor nerves are not working properly, these bodily functions are compromised.  In his book “Genetic Rounds,” pediatric geneticist Dr. Robert Marion (Einstein) describes SMA as “the childhood equivalent of the better-known, but also poorly understood, amyotrophic lateral sclerosis, more commonly known as Lou Gehrig’s disease…” (pgs 85-86). SMA is a rare disorder occurring in approximately 8 out of every 100,000 live births, and is the leading cause of infant death. There are four types of SMA, which range from lethal in infancy to a less severe form that develops in adulthood.

Like other Ashkenazi Jewish diseases we have talked about on this blog, SMA is inherited in an autosomal recessive pattern. So if both parents in a couple are carriers of SMA, there is a 1 in 4 chance for them to have a child who is affected.

The reason many OB/GYNs order SMA testing is because in 2008, the American College of Medical Genetics and Genomics came out with a Practice Guideline that said: “Because SMA is present in all populations, carrier testing should be offered to all couples regardless of race or ethnicity.” Recent studies have shown that the carrier frequency is about 1 in 56 in the general population, and about 1 in 67 in the Ashkenazi Jewish population.

If you look at our current panel of diseases for screening our Ashkenazi patients, you will see that based on carrier frequency, SMA is actually more common than many of the other diseases on the panel. I would like to point out that even though it is more common, SMA does not fall under the category of “Ashkenazi Jewish genetic diseases.” This is because those conditions have known “founder mutations,” or genetic changes that are frequent in that specific population. SMA mutations are common in ALL populations, not just in Ashkenazi Jews. Since we often see patients who come for Ashkenazi testing before a pregnancy, we recommend that they also get screened for SMA at the same time. This is also true for the Sephardic and non-Jewish patients we see.

August is “SMA Awareness Month.” To learn more about SMA and the research initiatives to treat it, go online to the SMA Foundation website.  Personally, I am made aware of SMA every day since my neighbor is affected with type II SMA and I see her playing outside in her wheelchair all the time. But for those of you who do not know anyone who is affected, try to become aware that this condition exists. Make sure to get screened before a pregnancy or early into one, and spread the word to your child-bearing friends and family. You could really make the difference!

Forty Years

Operation Gene Screen

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

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

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

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

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

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

Making the Rare Diseases Rarer?

ImageOver the past week, I received two emails from parents of children with severe and rare genetic diseases. Both emails were very heartfelt and informative. One of the emails ended with this plea: Can you add this disorder to your list and maybe prevent some suffering?

Currently, the PJGH is offering screening for 18 diseases that have known ‘founder mutations’ in the Ashkenazi Jewish (AJ) population.  In addition to these 18 diseases, the PJGH also offers screening for 2 other common diseases that do not have AJ founder mutations. Genetics centers around the country have different opinions when it comes to adding on more tests to the core 18 AJ diseases (and I encourage you to do your research when you decide which panel to use). But the overall consensus is that genetic counseling should accompany any genetic testing that goes on, and not all diseases on a panel are created equal.

So how do I respond to the father of a child with a devastating genetic disease that is not included in the core panel? Certainly he has a point- he and his family have suffered immensely and he wants to help others avoid going through the same thing. However, to be perfectly blunt, there are tons of terrible diseases out there, and the genetics professionals just cannot test for each and every one on the population level. If geneticists have identified a mutation in the affected individual, then it’s a different story and genetic testing of other current and future family members is much more feasible.

So why can’t we test on the population level? Well, for starters, we do not (yet) know about the causative mutations for each and every genetic disease. Also, the methods of accurate testing may differ from disease to disease, and the detection rate may not be as high as we would like for each of these diseases (so someone who tests negative for something may have a false sense of security).

To be most efficient, we now test for the common diseases that have known founder mutations, whose natural history is understood and is severe, and whose testing has a high rate of detecting carriers instead of missing them.  It is hard for me to tell parents of kids whose diseases do not meet these criteria that we cannot add them to our panel because it makes it sound like their diseases are not as “significant” or “bad” as the ones we do include on the panel.  This is absolutely not true.

In the future, more sophisticated technologies such as whole genome sequencing may change this. Such methods of testing are already being used to classify rare diseases in children. But at this point, it’s just not reasonable. I wish we could test for everything and avoid heartache, but for now, we need to stick to what makes the most sense.

There are resources out there for people with rare disorders and their families. Be sure to check out:

The National Organization for Rare Disorders

The Office of Rare Disease Research (helps recruit individuals with rare diseases for research studies)

Rare Disease Day (an international advocacy day to bring widespread recognition of rare diseases—always celebrated at Einstein and around the world on the last day of February every year , a particularly rare day if it’s a leap year!)

Men don’t have ovaries, but…

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

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

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

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

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