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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?

Genetic Screening Sunday

carrier screening PSAMost of my Sundays involve errands, and then some dedicated time to relaxing and recharging before the upcoming week. This past Sunday I spent ~8 hours at a screening event that we ran at YU, open to Yeshiva College and Stern College students and alumni, and community members in Washington Heights. Registration opened ~3 weeks ago, and we were almost at capacity within days. We ended up screening ~140 individuals (not too shabby if you ask me!).

Screening events such as this one are really great, but also very challenging. They are great because it enables a large audience to benefit and pursue carrier screening in a convenient and centralized location. Screening events are challenging because of all the planning, coordination, and logistics which are involved in counseling and testing literally hundreds of people at a time.

One of the things which made this event run so smoothly is a new video we created as a tool to teach people about Jewish carrier screening. We decided to make this short video around the same time that I filmed the video for our new GeneSights lesson about Preconception Carrier Screening. Some of the more amusing parts of the day were all of the “You’re the woman from the video!” comments that I got. You can access the full GeneSights lesson by signing up and signing in here.

Even though it was a very long day, luckily, we had a ton of help! Special thanks to all our physicians, genetic counselors and genetics fellows, volunteers from the YU Medical Ethics Society, volunteer genetic counseling students, and our phlebotomists! (Anna, Ariella, Aryeh, Avi, Barrie, Carol, Chana, Chris, Emily, Jon, Mickey, Pauline, Sam, Sara Malka, Sara Malka [yup there were 2], Shirley, Susan, Tehilla, Temima, Yocheved, and Yosef). We could not have done it without you! A big thanks to Estie Rose, our genetic counselor who organized the event. The day went so smoothly, and in my opinion, was a big success. Now it’s time to wait for the results and begin the never ending process of follow up. Since 1 in 3 Ashkenazi Jews is a carrier for one of the conditions we screen for, I guess we’ll be expecting ~47 carriers from this screening event. That’s a lot of follow up!

If you missed the event but would still like to be screened, check out these great instructions on how!

Back to the Swing of Things

swingWelcome back! Summer vacations have come to an end, we’ve passed the Labor Day mark, school is back in session, and we’ve reached the never ending season of Jewish holidays. We’re finally (almost) back to regular swing of things.

Here at the Program for Jewish Genetic Health, we’re also really excited about kicking off the New Year. We recently reflected on some of the projects we’ve been working on, and have realized that we have quite a bit to be proud of!

We’ve been trying to spread information and education about genetics and how it impacts the Jewish community. This past January, Estie wrote an article for the Jewish Press  talking about the importance of preconception carrier screening, and just this past August, she wrote another article explaining the importance and utility of genetic counseling. I wrote an article which appeared in the Jewish Press about BRCA related hereditary cancers and the usefulness of genetic testing.

Over the past year, we launched our GeneSights online education platform, as well as three lessons; Genetics 101, Hereditary Breast and Ovarian Cancer (BRCA1 and BRCA1), and Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis. Our next lesson:  Preconception Carrier Screening: Tay Sachs and many other diseases, has already been filmed, and we’re planning to launch it this October or November!

We’ve given numerous in-person talks and educational events in and around the NY area as well as in Memphis, TN, Chicago, IL, and Phoenix, AZ. In addition to community education, we’ve focused on educating Rabbis, community leaders, and healthcare providers about some of these important issues. We have a number of new educational events scheduled and in the works for the upcoming year!

Aside from being able to help coordinate carrier screening at our clinical offices at Montefiore, we’ve also held a community screen this year at Columbia University. Our annual community screen for Stern College, YU, and the Mount Sinai Washington Heights community is coming up soon, and will be on November 10th, 2013 (hope to see you there!).

To me, the fall has always felt like a time of new beginnings. As I child, I loved going back to school, learning new things, and getting a fresh new start. Here at the Program for Jewish Genetic Health we have lots of new and exciting projects in the works. We’re hoping that this upcoming year will be a fantastic one for our PJGH family, and for yours.

(And to get back on my soap-box for one more minute, as I’ve done now on numerous occasions, I’ll remind you to find out more about your family medical history. If you’ll be with family over the holidays, use this opportunity to speak with them and gather this important and potentially lifesaving information!)

Asking the Right Questions

We spend a lot of time talking about Ashkenazi (Eastern European) Jewish Genetic Diseases and testing. But a friend recently asked me, how do we know who is Ashkenazi and who isn’t? The simple answer is, we ask! Every single patient! Most of my patients think it’s a very strange question, and some do question why I’m asking about Jewish ancestry. I explain that there are certain conditions which are more common in different populations, and depending on your specific ethnic background, I may offer additional testing.

A story to illustrate:

A number of years ago I met with a Jamaican woman during her pregnancy. She was coming in for a very routine appointment, for us to review all of her prenatal genetic testing options.

As I was taking her family history, she explained that her husband was Irish, so her older son looks more like her husband, with pale white skin, freckles, and light curly hair, and unfortunately did not appear to be black, even though she is. She also said that often when she takes her son to the park, women think she is his babysitter and not his mother.

When I asked if she has Jewish ancestry, she replied, “Funny you should ask that. My grandfather was Jewish, from Poland!” She then went on to explain that although she does not identify as Jewish, she lives in community where there are a lot of Jewish families, and she sends her son to the local Jewish preschool, since it is one of the better local schools. When she takes her son to the park and he’s running around and playing, he’ll call out to her, saying “Ema! Ema!” (Hebrew for “Mommy! Mommy!”), since that’s what he learns in school. All the other Jewish women in the playground look around wondering who this child belongs to, as she calls out to him “Ema, I mean, Mommy is right here!”

I spoke with her about Ashkenazi Jewish carrier screening, and specifically carrier screening for Tay Sachs disease, as Tay Sachs disease is common in both the Ashkenazi Jewish and Irish populations.

As her appointment came to a close I walked her out of my office and gave her my card. “How do you pronounce your name again?” I explained that the “Ch-“ sound is sometimes difficult to say, but ‘Chani’ roughly translates to ‘Grace’. “Oh, that’s a beautiful name! You know, if this is a girl…” she said, as she pointed to her belly. “No, that’s probably not a good idea.” I said. “If you think it’s frustrating now with your son running around calling you ‘Ema’, it’s going to be much worse if you name your daughter “Chani”.

For better or for worse, regardless of how you identify religiously, if you have Jewish ancestry, you could still be a carrier of a Jewish Genetic Disease.  Even having only one Jewish grandparent will cause me to offer you Jewish carrier screening. So especially for those who may never meet with a genetic counselor and are not “identifiable” as Jewish, be sure to mention it to your doctor and ask about Jewish genetic carrier screening!

For a list of conditions we currently screen for, click here.

To be screened through our program visit our genetic testing website.

To find a genetic counselor visit: http://www.nsgc.org/findageneticcounselor/tabid/64/default.aspx

My Family History Reminder

I’ve spoken about the importance of family medical history before. This time though, it was a patient who reminded me of the importance of reaching out to your family members to learn about your family history.

Earlier this week, I had a lovely woman and her daughter in my office. The woman had recently been diagnosed with breast cancer, similar to many of my patients, and, also similar to many of my patients, she and her daughter spent some time trying to recall their family history.

The conversation went something like this:

“I think Aunt Joyce* died from stomach cancer. Or well, maybe it was ovarian cancer.”, “How many brothers and sisters did your father have?”, and “I think grandma was one of seven girls”. “Did any of them have cancer? I can’t remember..”

At the end of our discussion, my patient realized that she really didn’t know much about her family medical history. As they were on their way out, my patient’s daughter stopped and asked, “Can we have a copy of that family tree too?,” pointing to the pedigree which I had constructed from our family history discussion.  This caught me a bit by surprise, as most of my patients just accept that they don’t know much about their family histories.  “Absolutely!,”  I said.

After realizing how little they knew about their family medical history, my patient and her daughter decided to go back to their family members (my patient’s father is in his 90s!), using the pedigree I drew as a starting point. They are going to compile a record of their family medical history, so that my patients’ children, grandchildren, and great grandchildren will know what medical issues existed in their family and will be able to use that information for their own wellbeing.  I am so proud!

Most people usually don’t get the opportunity to sit down with generations of their immediate and extended family members for an extended period of time, but with Passover coming up, you have a great chance to speak to your family and gather information about the family history. If you’ve already listened to my nagging and collected a family history, use this opportunity to update your family history and find out if anything has changed in the past year. Remember, family history is not stagnant, as medical issues develop over an individual’s lifetime.

For instructions of how to collect family medical history and resources to help you, see my previous post on the subject here.

*Names have been changed for privacy purposes.

Revelations on Disclosure

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

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

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

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

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

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

How To Set Up an Appointment for Ashkenazi Jewish Carrier Screening

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We get a lot of phone calls and emails every day asking about our Ashkenazi Jewish carrier screening program, how it works, and how to set up an appointment. Hopefully this bit of information will be helpful.

  • We (the Program for Jewish Genetic Health) provide genetic counseling and carrier screening in the NY-area through our clinical offices at Montefiore Medical Center.
  • You must have genetic counseling in order to have your carrier screening through our program.
  • Since you are coming in for a genetic counseling visit, we do ask for your physician’s phone number so we can send a copy of your results to your physician.
  • Since it is a genetic counseling visit, Montefiore bills your insurance company for the genetic counseling visit. We have you call your insurance company before setting up an appointment to see if the genetic counseling will be covered. For instructions on how to do this, click here. If you don’t check with your insurance company in advance and you get a bill, we CANNOT reduce the price of the office visit.
  • If you do not have any health insurance, we offer you a reduced rate of $75 for the office visit. We ask that you contribute $180 towards the cost of your genetic testing and we subsidize the remainder.
  • We do not run the genetic testing ourselves. We send the testing out to outside labs. The lab which we use for the majority of your testing bills your insurance company. Even if your insurance company pays NOTHING, the lab will not send you a bill for more than $99. For this reason, we do not ask you to look into insurance coverage for the genetic testing, and we do not deal with insurance companies regarding this.
  • It takes ~2-3 weeks to get results from the testing. Once results are in, we call you with the results and send a copy of the results to your doctor and to yourself for your records.
  • Once you are ready to set up an appointment, click here and fill out our registration form. Someone will contact you within 2-3 days to set up an appointment. Below are our appointment times:

Mondays 8:30am-9:30am

Tuesdays 8:30am-11:00am and 1:00pm-2:00pm

Fridays 8:30am-10:00am

  • For more information, click here to visit our Program’s informational genetic testing website.

If you do not live in the NY-area, try contacting one of these wonderful organizations who provide subsidized carrier screening:

1)      The Victor Center  http://www.victorcenters.org/screening.cfm

2)      The Center for Jewish Genetics (formerly the Chicago Center for Jewish Genetics) http://www.jewishgenetics.org/?q=content/education-and-screening-programs

3)      The Jewish Genetic Diseases Center of Greater Phoenix  http://www.jewishgeneticsphx.org/

If one of these centers is not local, please visit www.nsgc.org to find a genetic counselor near you.

This Chanukah, Give the Greatest Gift of All

As I was sitting down to write my newest blog post, tons of Chanukah-related themes floated through my head.  But the material side of me thought of presents, and about how we spend so much time and money thinking about the perfect gift for each of our loved ones. But why do we put so much energy into this? Yes, because we love them, but it’s not completely altruistic. We want the receivers of our gifts to think good of us. I find that the gift-giving ceremony has become verification that the giver is a worthy person in the receiver’s life.

But it’s not always that way–some gifts are unselfish. I am referring to giving the gift of life via organ or bone marrow donation. I have a soft spot for the Gift of Life Bone Marrow Foundation, a registry of hundreds of thousands of donor samples that are available to be matched should an individual with a blood disorder (such as leukemia or lymphoma) need a transplant. After attending their Partners for Life Gala dinner this past summer and witnessing 3 donor/recipient couples meeting for the first time since their successful transplants, the term gift of life has taken on a new meaning to me.

Matching is done through the histocompatibility antigen test, which looks for proteins called human leukocyte antigens (HLAs). HLAs are found on the surface of nearly every cell in the human body and are found in large amounts on the surface of white blood cells. They help the immune system tell the difference between body tissue and foreign substances. Each person has two sets of 3 small, relatively unique HLA proteins that they inherit from each of their parents.  Siblings have a 1 in 4 (or 25%) chance of being a match, that is, of inheriting the same two sets of HLA proteins.

After HLA is determined, a crossmatch test is used to determine whether the recipient has antibodies against the donor’s HLA. If so, these antibodies could injure the donor’s cells, making the transplant a failure.

As you can see, finding a perfect match is not easy. If a family member is not a match, then the next most likely candidate is someone from the same ethic background.  The Gift of Life Bone Marrow Foundation is part of the National Marrow Donor Program, but has a niche in that it is dedicated to recruitment within the Jewish community. A Jewish individual seeking a match is more likely to find it within this smaller group of samples. This subset of samples also adds much needed ethnic diversity to the overall donor pool.

To become a potential donor, all you need to do is take a special Q-tip and swipe it in your mouth, either at home or at one of the many donor drives in your area. Gift of Life will call you if they believe you could be a match for an individual in need and will do more invasive follow-up studies.

So this Chanukah, think about giving the most selfless gift you can. What greater gift can one give to another than the gift of life?

For more information about Gift of Life or to get swabbed, visit their website at: www.giftoflife.org

Educating Our Educators: Part 3

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A few weeks ago I had the opportunity to meet with some of the Rabbis and educators at the Manhattan Jewish Experience (MJE) on Manhattan’s West Side. MJE is a cutting edge program for young Jewish professionals in their 20’s and 30’s, with little or no background in Judaism who are interested in connecting more to each other, to their community, and to Judaism. MJE is a place where young men and women can explore Jewish life and meet new people.

Prior to our session, we had begun to discuss some of the issues related to Ashkenazi Jewish carrier screening which were unique to this community, but I was definitely not prepared for how unique the needs of this community are!

Broaching the topic of genetic testing for this community is completely different than for individuals who grew up hearing and knowing about it. Many couples who come to our office for carrier screening are already familiar with my shpiel. However for many in this community, the idea that they could potentially be at risk to have a child with a genetic disease specifically because they are Ashkenazi Jews is a completely new concept.  Thinking about when is the right time to bring up the concept of Jewish genetic disease carrier screening and when the right time for having the testing done was also definitely a challenge. Especially when you are trying to make sure that these individuals and couples don’t get overwhelmed by the concern that they could have a child who is affected.

As always, there is no “cookie-cutter model” which will work for each couple and individual, but I believe the best line from our discussion was, “this doesn’t have to be stressful.” Carrier screening is, and should be seen as routine. This does not need to add on unbelievable stress for an individual or to a relationship.

We’re looking forward to working with the MJE in the future, as they continue to determine how best to approach their community on these issues.

Are we sure we really want to go there?

DNA code analysisAs an Ashkenazi Jew and someone who was pregnant several times in the late 1990s and early 2000s, I witnessed, from the perspective of a patient, the stepwise increase in the number of Jewish genetic diseases for which carrier testing was available.  When I moved into this scientific realm professionally in 2006, I realized that that was only the tip of the iceberg.  What had started out as population testing for one disease only (Tay-Sachs) in the 1970s rapidly advanced gene-by-gene, to the point where now we readily can test for carrier status for at least 18 of the so-called “Ashkenazi Jewish genetic diseases.”

Until recently, testing was performed in a gene by gene manner, resulting in additive costs that reached the thousands of dollars.  Fortunately, breakthroughs in technology have led to significant progress in reducing the costs associated with screening for many diseases at the same time.   Now, a single DNA sample can be assessed on a “chip” or an “array” that simultaneously can survey many mutations in many disease genes .  If a mutation is detected by the array, then that individual is said to be a “carrier” of the associated genetic disease.  Remember, carriers themselves do not and will not exhibit symptoms of that disease, but offspring of carrier couples are at risk to be affected.

Okay, now here is where the “are we sure we really want to go there” question comes into play.  Right now, we are still testing for the common mutations in the relevant disease genes with these “targeted” arrays.  But there are other rarer mutations in those same genes that have been described to be disease-associated that are not being assessed routinely. So, some carriers are being missed.    If we wanted to look at each disease gene in its entirety, we could instead be using a technology called gene sequencing.  With gene sequencing, each position in the gene is “read” and then cross-compared to the normal sequence.  Many companies and laboratories are thinking about/developing sequencing platforms for the purpose of carrier identification, with the goal of missing fewer carriers.

So what’s the downside? The downside is that we will not only pick up the common+rarer disease mutations, but we will also pick up changes that we cannot interpret properly because we have not seen them before (these changes are called “variants of unknown significance”).  They could be disease-causing in offspring of carrier couples, but alternatively they could be benign.  If we as professionals can’t interpret these properly, what do we tell the patients?

And you know what makes me even more anxious? The alternative concept of sequencing ALL of someone’s genes (their genome) for carrier identification, as opposed to just focusing the sequencing on a targeted subset of genes, such as the subset that causes the Ashkenazi Jewish diseases.  In that scenario, not only will we be grappling with the variants of unknown clinical significance, but also with findings throughout the genome that are incidental/unanticipated. These findings could include mutations that lead to adult-onset disease in the carriers themselves, some of which diseases have no treatments or cures.

Only time will tell where the field is heading, and advances in technology coupled with decreasing costs may be the ultimate drivers here.  I think we should pause and think about how vast the ocean is before taking the plunge.

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