As everyone else in the Jewish world is gearing up for Passover by cleaning, cooking, and planning their Seders, I am thinking about how to best convince you to use the opportunity of a holiday to discuss your family health history!
Hopefully, I no longer need to convince you that gathering information about your family medical history is a worthwhile activity, but If I do, I will remind you, that far better than any genetic test, your family health history can help you and your healthcare providers determine what medical issues you are at risk for, and subsequently, how to best care for you.
You can also use this family history tool created by the Surgeon General, or these guidelines to learn what questions to ask, and how to take your own family history. Some additional instructions or family history guides can be found on the NSGC website here.
We know that discussing your family medical history may feel like an uncomfortable and nosy task, but your family medical history is part of your heritage and has major implications for your own health, and the health of your family members.
Wishing you a happy and healthy Passover, from the Program for Jewish Genetic Health!!
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.
Guest Blogger, Sherry Kabran, writes about her amazing new project, Tree of Life, A BRCA Conversation http://www.treeoflifebrca.org:
While in mourning, some try to cope with their emotions and loss by writing journals, going to support groups, blogging, running races, attending daily minyans, even starting cancer oriented organizations. The women in my family found their own ways to accept the loss of Carolyn Raizes Davis, mother and sister, but together we created Tree of Life: a BRCA Conversation guide for Passover, Shabbat and Rosh Chodesh.
Each guide helps Jews of Ashkenazi descent understand basic facts about hereditary cancer risks from BReast CAncer gene mutations. The highlighted message is that every family should create a family medical tree, look for red flags and consider genetic testing, if appropriate. The guides provide a Jewish setting in which to start a serious conversation that might save the 1 in 40 Jews of Ashkenazi descent, who unknowingly has a BRCA gene mutation.
This family project was our suggestion to FORCE (Facing Our Risk of Cancer Empowered) to further reach out to the Jewish community with a teaching tool. How could we not try to help? Carolyn passionately believed in teaching the community about BRCA gene mutation risks and worked closely with The Methodist Hospital doctors in Houston, Texas, to develop an educational program. Her legacy was EDUCATE anyone who will listen!
My younger sister, Francine, and I decided Passover was an ideal time to have a multi-generational discussion about gathering medical histories. We know about oranges and coffee beans on the Seder plate. How about a tree branch, to represent the importance of medical family trees? Each guide provides: an introduction to start the conversation, a BRCA branch symbol of family trees, a choice of videos, a medical history form to gather health information, Debbie Friedman’s Mi Sheberach prayer and suggestions for next steps.
Of course I googled “Passover & family histories” and found Chani’s post suggesting families do just that, at the Seder table! Her blog is incredibly informative and thought provoking. Plus, she told me to take the conversation guide idea and run with it. Thank you, Chani, for your encouragement.
The Davis/Raizes/Kabran family hopes readers will explore the guides (http://www.treeoflifebrca.org) and decide to use one during family gatherings. Please tell us about the experience. Also, help us save lives by sharing the website on Facebook and forwarding the free downloadable guides to family members, friends and community leaders (Jewish organizations are beginning to offer BRCA educational programs). Your suggestions for use of the guides and ways to publicize would be greatly appreciated.
Sherry Kabran: firstname.lastname@example.org
Passover is traditionally the holiday of history. In fact, it is a unique time which we are told to actually be historians. The whole point of the Seder is so that we tell over the story of how we and our forefathers were slaves in Egypt, and G-d took us out. The Seder is set up to be multigenerational in that sense. Everyone is involved, grandparents, parents, children, and everyone has their own role.
Perhaps you already see where I’m going with this. Use this opportunity, gathered around with your family, to discuss and share your family medical history! Similar to the Seder, everyone in your family has a role in this, especially those who are already considered the family’s medical history “historians”.
Usually there are one or two individuals in the family who know something about the family’s medical history, but everyone else is typically clueless. I see this on a daily basis when I meet with patients and ask them questions about their family histories. I can rapidly tell the difference between those “historians” who know what medical issues run in their families, and those whose answers consist largely of “I don’t know”.
I didn’t know much about my family medical history until I became a genetic counselor and asked my mother (our family’s medical historian) all of the pertinent questions. My sisters still don’t know a lot, and their answers at a doctor’s visit will likely consist of a lot of “I don’t know”s.
Family medical history is something we all should know! It is the best predictor of future medical issues, and can help your doctors direct your care appropriately.
We often talk about how genetic testing can help you, and the reasons that someone might want to have genetic testing done. What we don’t speak about so often is the practical (and legal) repercussions of having certain types of genetic testing. What I’m talking about here is genetic discrimination.
So here is the example. You have a genetic test and find out that you have a higher than average risk to have an aortic aneurism (which is very bad). Now, obviously we send you to a cardiologist and try to take steps to keep you healthy. But what does your employer do? What does your health insurance do?
The good news is that there are laws in place to protect you from being discriminated against due to your genetics. Different states may have unique laws in place to protect your rights. There was also a federal law passed in 2008 called the Genetics Information Non-Discrimination Act (GINA) which basically states that your health insurance and employer cannot discriminate against you based on a genetic test result.
So for example, you go to the doctor and your heart is deemed to be fine, but you have this genetic test result which indicates your increased risk for an aortic aneurism. Your health insurance cannot drop you, refuse to cover you, or raise your rates or premiums. An employer cannot refuse to hire you, fire you, pass you on a promotion, make changes to your pay, etc. based on that genetic test result.
However, this law does not protect against discrimination from life insurance or long term care insurance companies. (Granted, if you already have an aortic aneurism, that will probably trump the genetic test result.) However, it is definitely important to consider, especially for those who are pre-symptomatic. We often bring this up in our cancer genetic counseling sessions, especially for those who have not had cancer, but are at risk to have a BRCA mutation based on family history. The decision and timing of when to pursue genetic testing sometimes takes in to account purchasing or updating long term care insurance and life insurance policies.
I’ve always been aware that most people have no idea what I do. But recently, I’ve discovered a new misconception and view of what a genetic counselor does, and it’s one which I think is worthwhile discussing.
I have recently interacted with a number of people who have expressed the same sentiment; I don’t need counseling so therefore I do not need to meet with a genetic counselor. “My child has a genetic disease, but I don’t need counseling”, “I just need to get my blood drawn for a genetic test, I don’t need counseling”, and most recently, “I don’t need to meet with a therapist, I just spoke with that genetic counselor”. These statements indicate a misunderstanding of what a genetic counselor actually does. You see, genetic counselors don’t do counseling.
Ok, that’s a bit misleading. We do speak with people, and often use counseling techniques in our sessions, most often decision-oriented counseling, crisis counseling, and other psychosocial techniques. Genetic counselors do have training in psychosocial counseling as part of their graduate training, however, any issue which is significant enough to necessitate counseling, should be handled by an actual counselor (therapist, social worker, psychologist, psychiatrist, etc.). I frequently refer patients to speak with therapists about various issues that come up in a genetic counseling session.
So what do genetic counselors do? Well, it’s going to be different in every session. However, the essence includes reviewing one’s medical and family history, family history risk assessment, discussing the features and inheritance of various genetic diseases, identifying appropriate genetic testing, and explaining the risks, benefits, and limitations of that testing, interpreting and explaining the significance of genetic test results, and identifying resources for the patient or family. I often see myself as a patient educator and a patient advocate.
This consultation is important for a number of reasons.
1- Genetic tests are very specialized. I’ve said this before, but there is no one “catch all” genetic test. If you need genetic testing, it’s the genetic counselor’s role to make sure the correct test is being ordered.
2- You need to provide informed consent when a genetic test is being done. This means that prior to having a genetic test done, you need to understand the risks, benefits, and limitations of that testing. All of those things are explained in a genetic counseling session, and informed consent is obtained.
3- Interpretation of genetic test results is complicated and must be done in the context of personal and family history. This is what genetic counselors are trained to do!
4- Pursuing genetic testing is always YOUR choice. Often there are even multiple testing options in front of you. It’s always up to you to decide if you want to do testing, and what testing you want to do. Genetic counselors specialize in helping people make the best decisions for themselves.
So is the name genetic counselor deterring people from meeting with us? Should the name be changed to a genetic consultant?
To learn more about genetic counseling, visit the NSGC (National Society of Genetic Counselors) website at www.nsgc.org
Welcome 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!)
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.
I 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.
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.