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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.

Genetics and Movies? Ok, Genetics and Patent Law

This really cool new movie just came out. I can’t wait to see it. It’s called “Decoding Annie Parker,” starring Helen Hunt as Dr. Marie Claire King. Oh, you haven’t heard of Dr. Marie Claire King? She is one of the many rock stars of the genetics world, having discovered the BRCA1 gene back in the mid-1990s. (For more information about the film, possible screenings, and the BRCA1 gene, see their website http://www.decodingannieparkerfilm.com/)

Yes, those are the same BRCA genes associated with Hereditary Breast and Ovarian Cancer which we keep on urging you to be aware of and consider testing for (if appropriate). Most people actually don’t realize that there is only one lab (company) in the U.S., Myriad Genetics, that performs complete genetic testing for these genes, since it holds a patent on the BRCA1 and BRCA2 genes.

Wait, you haven’t heard of gene patents either?

Although genes are considered “products of nature,” many labs have patented genes, or well, the technology used to isolate, study and test the genes. If a lab holds a patent on a gene, they can:

A) Ignore the patent and allow others to test for the gene(s) free of charge

B) Enforce their patent and collect royalties from other labs in order to do testing on the gene(s)

C) Enforce their patent and fine labs a significant penalty if they do clinical testing on the gene(s)

Myriad Genetics, the lab in question, does both B and C. This basically means that if you wanted genetic testing for mutations in the BRCA genes because of a personal or family history of breast and/or ovarian cancer, I, as your genetic counselor, would only be able to send your testing to this one lab. If for some reason your insurance did not want to cover the testing, you would be responsible to pay for the testing yourself, which at this point would be upwards of $4,000. If you were unable to afford the cost of the testing, you would not be able to have the testing done.

Patents however, do encourage innovation and advancement of medical research. Myriad Genetics has the most experience with BRCA testing and interpreting the results. They maintain a database of variants of uncertain significance (which are uncertain results that we can get from genetic testing) and reclassify these variants, ie- reinterpret the results, as new information becomes available.

Since 2009, The American Civil Liberties Union (ACLU) and many medical and genetics organizations and individuals have been involved in a lawsuit against Myriad Genetics to try and overthrow the patents in question, but the case will likely have more far reaching implications (beyond BRCA) for both gene patents and intellectual property laws. The case has already been to the U.S. Supreme Court and was sent back to the Federal Appeals Court, only to reach the Supreme Court again. Arguments are scheduled to be heard this coming Monday, 4/15/13.

For more background information about the case, you can visit the following reputable sources:

The ACLU  http://www.aclu.org/free-speech-technology-and-liberty-womens-rights/association-molecular-pathology-v-myriad-genetics

The NY Times (March 2012) http://www.nytimes.com/2012/03/27/business/high-court-orders-new-look-at-gene-patents.html

The New Yorker (April 2013) http://www.newyorker.com/online/blogs/elements/2013/04/myriad-genetics-patent-genes.html

We’re all interested to see how this will turn out. Will the Supreme Court uphold the patents? Only time will tell…

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

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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.

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.

What to Expect: The Cancer Genetics Appointment

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We’ve already spoken about two of the most common genetics visits (prenatal and pediatric). The third common genetics visit is for cancer genetics. You might be sent to speak to a genetic counselor because you’ve had either a personal or family history of cancer. Usually we are concerned when many individuals in one family are diagnosed with cancer, specifically at young ages (<50 years old). The concern is that the cancer in your family may have been caused by something hereditary, which could then cause yourself or other family members to have a higher risk for cancer than others in the general population.

At a cancer genetics appointment, you won’t necessarily have genetic testing. The majority of the session is spent reviewing your family history . The genetic counselor will ask you a number of questions about all of the individuals in your family who have had cancer (and those who haven’t!). How are they related to you? What kind of cancer did they have? How old were they when they were diagnosed? Has anyone else in the family had genetic testing before? (Speak with your family before going in for your cancer genetics appointment to find out the answers to these questions!)

Once you’d discussed the family history, the genetic counselor/geneticist will let you know how likely they think it is that the cancer in your family is being caused by something inherited and they will educate you about the specific cancer syndromes they are considering and which gene or genes they recommend testing.

“So what if the cancer in my family is inherited? I wouldn’t want to know if I had a higher chance to develop cancer than other people! I’ll probably just get cancer like everyone else did.”

That is definitely one perspective, but the truth is that the area of cancer genetics is one the most empowering area of genetics now-a-days. If we are able to identify individuals who are at an increased risk for cancer, we can recommend increased screening protocols so that cancer can be detected at an earlier and treatable stage. Additionally, some individuals with a hereditary increased risk for cancer may decide to use chemoprevention (medications which may reduce cancer risk for some women) or undergo preventive surgeries in order to reduce their risk for cancer.

The final decision of whether or not to undergo genetic testing is ultimately up to you, but the genetic counseling visit is vital in order to determine what gene or genes should be tested, and to provide you with the information you need to make that decision.

My Thanksgiving Appeal: The Importance of Family Health History

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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.

 

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.

Do I really have to wait??

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 “I’m dating this girl and we want to get engaged really soon (i.e.- tomorrow, latest next week). I figured we should do that ‘genetic testing thing’. Do you think we need to wait to get engaged until after the results come back?”

I get this question ALL THE TIME. The truth is, it depends. It depends on you, and how this information might be useful for you.

If you want your results strictly for informative purposes, i.e.- you’re going to get married no matter what, even if you are both carriers of the same genetic disease and have a 25% chance in each pregnancy to have an affected child, then no- you don’t have to wait to get engaged. There absolutely are options out there that can help you have a healthy family. I would still recommend undergoing testing sooner rather than later, because it may be useful to know what you’re getting into and begin learning about and speaking with your partner about your options before you both consider a pregnancy.

HOWEVER, if you might not continue the relationship if you and your partner are both carriers of the same condition and are at risk to have an affected child, then you absolutely should wait to get engaged. These genetic testing results could identify that you and your partner are at risk to have an affected child.  After all, that’s why we do the testing to begin with. If I could tell by looking at you that you weren’t a carrier then this whole “genetic testing thing” would be a bit redundant. It is never easy to end a relationship; however it is definitely easier, and less traumatic to break up a relationship prior to getting engaged as opposed to afterwards.

Unfortunately, many people wait until the very last moment to have Ashkenazi Jewish carrier screening, as a “just in case” sort of check, and they expect (and hope) that the results will be normal. About 1 in 100 (1%) couples of Ashkenazi Jewish descent are both carriers of the same genetic disease. As far as I’m concerned, testing should definitely be done before a pregnancy, but past that, you have some leeway in terms of when you’d like the testing to be done.

Personally, I did this testing before I even met my husband. I wasn’t even dating anyone at the time. I just felt that the information would eventually be useful, and I wanted it to be there, ready and waiting for me when I needed it. Genetic testing results are different than other types of blood tests as the results do not change. Once you’ve had the testing, those results are yours and do not change from year to year. However, you should update your testing as new disorders are added to the panel over time.

Educating Our Educators: Part 2

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Last week, Estie and I had the opportunity to head out to Stamford, Conn. and participate in the Jewish Learning Initiative on Campus (JLIC)’s annual conference. JLIC is a program run through the Orthodox Union that places Orthodox Rabbinic couples as Torah educators in Hillels on college campuses. The JLIC educators provide avenues for spiritual development and exploration for Jewish students from varied backgrounds as well as presenting a positive, sophisticated and welcoming face for Orthodox Judaism on campus.

Our goal in educating these educators was to spark their interest in issues related to genetics and Jewish law and encourage them to discuss these issues with their students. We were thankfully able to provide the JLIC educators with a list of Jewish sources discussing issues related to genetics such as pregnancy termination, invasive prenatal testing, preimplantation genetic diagnosis, confidentiality, and disclosure. These sources will undoubtedly come in handy for the JLIC educators and help them raise awareness and begin a dialogue with their students about these interesting and important issues.  While raising awareness about genetics issues on campus is one step, many of the educators expressed interest in hosting a genetic screening event on their campuses for their students.

The educators had lots of really good questions ranging from what to say to students who are very anxious about undergoing carrier screening to whether or not college students are even interesting in Ashkenazi Jewish carrier screening (but more on that later)! We’re looking forward to working with them!

Educating Our Educators: Part 1

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by Chani Wiesman, MS, CGC

A few weeks ago I joined a group of women gathered together in the study hall at Ma’ayanot Yeshiva High School for Girls in Teaneck, New Jersey to help them learn about prenatal and preconception genetic carrier screening as well as hereditary cancers and their impact on the Ashkenazi Jewish community.

These women are preparing to become Yoatzot Halacha, literally, Advisors on Jewish Law. Yoatzot Halacha are women certified by a panel of Orthodox rabbis to be a resource for women with questions regarding Taharat HaMishpachah (an area of Jewish Law that relates to marriage, sexuality and women’s health). This role was devised to assist women who are more comfortable discussing very personal issues with another woman. As part of their training, they devote two years (over 1000 hours) to intensive study with rabbinic authorities in these laws.

They receive training from experts in modern medicine and psychology, including gynecology, infertility, women’s health, family dynamics and sexuality. I spent a total of 2-½ hours with these future leaders in the Jewish community, discussing the importance of preconception carrier screening as well as awareness about the high risk for inherited cancers, specifically breast and ovarian cancer, and the availability of genetic testing, as well as screening and management recommendations for high-risk women. Yoatzot Halacha are in a unique position in the community, as they often meet with women before they get married, and have a continued relationship with women throughout their reproductive lives, making education about reproductive and cancer genetics vital.

The Yoatzot Halacha-in training had many thought provoking questions ranging from the efficacy of self-breast exams, to insurance coverage for preconception genetic carrier screening, to issues of disclosure of genetic test results to family members. They were actively thinking about the practical applications of genetics to their role in the community and how they will be able to broach these issues with the women they advise.

All in all, a wonderful experience! I look forward to working with these women more in the future.

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