Blog Archives

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.

Updating Your Carrier Screening

update carrier screening croppedWhen I was at a recent sisterhood event at my synagogue, a friend of mine approached me to ask if she should “do her genetic testing again” since she and her husband were first tested in 2007 and have not been tested since. I answered with an emphatic “YES!” I appreciated that she knew to even ask this question, but our conversation got me thinking. Do other people know that new diseases are regularly being added to the Ashkenazi  Jewish panel?

The best time to get screened is well before a pregnancy. Since the 1980s when Tay-Sachs testing was introduced to the Ashkenazi Jewish world, there has been much progress in the realm of genetic testing. Currently, we screen for about 18 diseases that are common in this population. And testing for Sephardi and Mizrahi Jews as well as Jews of mixed ancestry has become more commonplace. But someone who was tested in 2001, for example, and was negative, is not “in the clear” since many more diseases have been added to the panel since then.

Many people ask me, “If I am already married, why should I bother updating my testing? It will only make me more anxious as I continue having children.” My response is that I’d rather find out that you are both carriers of the same genetic disorder by doing a blood test, rather than finding out after you have an affected child. There are other options besides for stopping childbearing, rolling the dice with each pregnancy, and breaking up! Other family planning options include testing the fetus early in the pregnancy, using an egg or sperm donor, and adoption. In-vitro fertilization with pre-implantation genetic diagnosis (PGD) is another great alternative for couples who want to know their child’s genetic status before it is even in-utero. By doing genetic testing this early on, a couple will avoid getting pregnant with an affected embryo and will circumvent any ethical or issues related to Jewish law that may arise.  Robin’s Story, a short public service announcement on MyJewishGeneticHealth.com, will open your eyes as to the importance of updating your screening and learning your options. And be sure to register to watch Dr. Lieman’s longer webinar about PGD and Chani’s lesson about preconception carrier screening!

Finally, while testing for diseases that are common in specific populations is currently recommended by professional genetics groups, there are labs who are now offering screening for many more diseases. These expanded carrier screening panels claim to be “one size fits all” and are marketed to all ethnicities, but a negative result on a broader screening does not fully eliminate the risk of having a child affected with one of the tested disorders, it only reduces the risk. Furthermore, expanded carrier screening does not cover all diseases that could affect offspring.

I wish I could go into every synagogue, preschool, sisterhood, and other places where women in their childbearing years hang out to remind them to update their carrier screening! But since that is impossible, please take the time to mention it to your family and friends and help me spread the message. Let’s avoid heartache together!

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!)

A Plea for Being Prepared

I recently was introduced to a young woman at a party.When she heard that I am a genetic counselor, she said, “What a coincidence, I need to speak with a genetics expert! You see, I am engaged and my fiancé was tested for Tay-Sachs but I think we may need to do some more genetic testing before we get married.” Feeling good that she met me at the right time, I told her to set up an appointment at our office. “Great,” she replied, “Because we are getting married in 2 weeks and I would like to know the results by the wedding date. “ I tried to dissuade the young woman from getting tested now, since the results would not be back in time for the wedding, and she did not need the extra stress.  I told her to enjoy her wedding and contact me before contemplating her first pregnancy. “But we want to get pregnant the night of the wedding,” she replied.

This was not the first time I have heard of this.  In some sects of Orthodox Judaism and other religions, couples decide against contraception; they believe that family planning is up to God.  And sometimes, even couples who do use methods of birth control may be surprised to get pregnant.  My point is, whether or not you take contraceptive measures, there is always a chance you could get pregnant.   And this could have added implications if the couple is at increased risk for offspring with a genetic disease.

I am not trying to scare you; I am merely trying to set the stage for my position on carrier screening.  If a couple finds out that they are both carriers of a recessive disease such as Tay- Sachs, this means that there is a 1 in4 (or 25%) chance of having an affected child with each pregnancy. Wouldn’t it be better for such a couple to know that they are at risk before getting pregnant? Instead of achieving a pregnancy naturally and taking that 1 in 4 chance, a carrier couple may decide to do in vitro fertilization with pre-implantation genetic diagnosis (what genetics people call “IVF with PGD”). Other couples may opt to use an egg or sperm donor (who is not a carrier of the same disease), and others might decide to adopt or not have children at all. My point is that if a couple knows before getting pregnant, they have more reproductive options available to them.

And what about those couples who do not plan their pregnancies to the day? For instance, consider the woman who decides against using contraception on her wedding night, or the couple whose methods do not do the trick. Those people (ie, could be anyone!) ought to know their carrier status sooner rather than later. It’s always better to be prepared than to find out during a pregnancy when difficult decisions may be on the table, or even later with the birth of an affected child.  So remember that you cannot plan everything in life-but for those things that you DO have control over (like going to get screened), why wait?

Click here for a short PSA on the importance of getting tested

We Get By With A Little Help From Our Friends…

Image

Who of us isn’t guilty of it? You have a legal issue you’re worried about, you run it by your friend, the lawyer! Your son’s fever is just a little too high, you call your neighbor, the pediatrician! And when it comes to your friendly neighborhood genetic issues, I often get some of those calls. To be honest, I don’t mind. My genetics knowledge doesn’t help anyone with scraped knees, bad cuts, or medication related worries, but when it comes to genetics issues, I’m your gal!

Recently I had a fantastic conversation with a good friend. It went something like this:

Friend: I have some good news! We’re expecting!

Me: That’s fantastic! I’m so excited for you guys.

Friend: Oh, I have news for you.

Me: More news? (Something more exciting than that you are expecting??)

Friend:  We did the Ashkenazi Jewish genetic testing a couple years ago, neither of us are carriers. I did Fragile X testing, and I’m not a carrier.

Me: That’s great! BUT you should make sure to update your Jewish carrier screening.  There are a few more tests since you guys were tested (I think).

Friend:  Really?

Me: Yea, if you tell me how many you were tested for- I can tell you what you’re missing  and either a genetic counselor or your doctor can order the new ones. My guess is it’s only 2 or 3 more

Friend: Bloom, Canavan,  CF, Familial Dysautonomia, Gaucher, Neimann-Pick, Mucolipidosis type IV, Tay-Sachs. That’s it.

Me: Oh. there are actually many more. Don’t freak out. They are not all super common,  but it’s good to test just to be sure.

The pdf is the list of 18 Jewish genetic diseases +SMA+Fragile X that i give to my patients.

https://www.yu.edu/uploadedFiles/Jewish_Living_and_Learning/Genetic_Health/Core_Efforts/Genetic_Testing/Community_Screening/table%20of%20diseases-AJ%20SMA%20FraX.pdf

Friend: They want me to test for spinal muscular atrophy, too.

Me: Yes, I’d add that on too. It’s not a Jewish genetic disease, it’s common in all populations  but you fall in to the “all populations” category too. Similar to Fragile X.

Bottom line is, I’m grateful that I can be a resource to my friends about all of the “genetic stuff”, as long as they don’t  mind me calling them about my twisted ankle..

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

Image

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

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

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

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

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

New Year’s Resolutions: Think Ahead

As we begin 2013, we are all thinking ahead to how we could make this year a good one.  Many of us will come up with goals or New Year’s resolutions. I find that 2 of the most common things people promise themselves  is to spend more time with their families and to keep healthy. I cannot imagine how much gym memberships go up in the month of January!

I think we can approach both the family and health resolutions  from a genetics perspective. First, as you are spending all this time with your families, I urge you to open up and talk about health issues with them. I cannot stress how often my patients tell me about major medical problems in relatives that they don’t realize are genetic and may actually affect them as well. So if you have something, please don’t hide it from your families. And take the time to ask other family members if they have anything going on. Like it or not, genetics brings families together.

And keeping healthy—be proactive about your health. Yes, keeping healthy means maintaining a healthy diet, exercising, cutting down on alcohol and smoking, reducing stress etc. But it also means taking preventative measures to reduce the chance of developing a health problem. Health screening measures include (but are not limited to) blood pressure and cholesterol monitoring, mammograms for women over age 40, colonoscopies for men and women over age 50, vaccinations for children and other screening tests like bone density and prostate exams.

And of course, if you are thinking about having children in the near future, make sure to get tested for common genetic diseases that could affect your offspring, ideally before becoming pregnant. If you and your partner are both carriers of a genetic disease, there are preventative measures you can take to avoid having an affected child.

So make 2013 count—think ahead and do what you can now. Don’t wait until it’s too late.

How To Set Up an Appointment for Ashkenazi Jewish Carrier Screening

Image

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.

My Thanksgiving Appeal: The Importance of Family Health History

Image

This coming Thanksgiving (2012) will be the 9th annual National Family History Day, a day on which families typically gather together and are encouraged to openly discuss their family health history, so this important information can guide family members and their physicians in making appropriate screening and management decisions.

Why is family health history important, you ask?

Whenever you meet with a genetics professional, they will take a family history, or pedigree.

For a genetic counselor or a medical geneticist, the family history is a crucial evaluation. In some cases it is your baseline health screening. In other cases, it helps to identify whether or not there is a concerning pattern in the family of individuals being affected with similar or related conditions. Family history risk assessment is a critical tool in my arsenal, and is much quicker and extremely less expensive than genetic testing.  It often indicates to us which gene or genes should be tested, who in the family should be tested, and when genetic testing is unavailable, our reliable family history still provides us with guidance regarding possible genetic and health risks in the family  and helps us determine if a condition in question is isolated or identify who else in the family is at risk.

The downside of using family history as a unique and vital screening tool is that most individuals are terrible historians. There are many reasons for this. Families rarely sit down together and talk about their medical problems. “Cousin Sarah is quite ill. She was diagnosed with something. Maybe it was cervical cancer. Maybe it was ovarian cancer. Maybe it was an infection, I’m not quite sure.” “My sister had a baby who passed away, but I’m not sure why. They never explained if the baby was sick or what happened exactly.” This is often for the benefit of the individual who is ill, so that he or she retains some privacy.

Many families are secretive about their medical issues. It is not uncommon to not know medical information about parts of the family that one is not in contact with anymore. “I have 4 brothers and sisters, but I only talk to my brother Jeff. I don’t know if my other siblings are healthy.”  “My mom has 3 sisters, but we don’t talk to Aunt Susie or Uncle Ben’s families. I’m not even sure how many kids they have.”  Sometimes the affected family member is far away, in another state or country perhaps, and it is difficult to find out what exactly happened. It is not uncommon to have limited information about their family health histories, even though this information is valuable and could have far reaching implications for individuals and their families.

Use the following steps to ensure that your family health history is accurate and up to date.

1) Start by creating a family tree. List all of your relatives starting with your children, your siblings, and your parents. Then list your grandparents, each of your parents siblings (your aunts and uncles), and their children (your first cousins). Add on new family members as they are born.

2) Record the medical history for each individual. Indicate the medical issues for each individual, including the specifics of the diagnoses as well as the age of diagnosis. For those family members who have passed away, indicate the age at which they passed away as well as the cause of their deaths.

3) Update your family history at a set time each year. It’s possible for a variety of reasons that you will not be notified when something has changed in your family’s health history. Set a time once a year when the family is gathered together to discuss and record the family health history.

The CDC’s Office of Public Health Genomics collaborated with the U.S. Surgeon General and other federal agencies to develop a Web-based tool called “My Family Health Portrait” https://familyhistory.hhs.gov/fhh-web/home.action.  This online resource is designed to help individuals record their family health history.

Your “family history day” doesn’t need to be Thanksgiving, but be sure to set a day each year to openly discuss your family health history and record it so that this vital information can be available to help direct you and your family’s healthcare and management.

 

%d bloggers like this: