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.
If you haven’t yet heard, last week we launched our new GeneSights lesson about Preimplantation Genetic Diagnosis (PGD). Well, I should say, it’s not a GeneSights lesson anymore. After listening to the feedback we’ve been getting, we decided to change the name of our online education series to one that can be more easily recognized and understood. Welcome to MyJewishGeneticHealth.com!
Our new lesson on PGD is a very exciting one, and one which we hope will be a valuable resource to the community. Our speaker, Dr. Harry Lieman, is the Director of the Division of Reproductive Endocrinology and Infertility at the Albert Einstein College of Medicine, as well as the Director of Montefiore’s Institute for Reproductive Medicine and Health, and the Liaison for Fertility and Reproductive Technologies at the PJGH.
Our PSA, Robin’s story, can be seen here. Speaking with Robin and understanding her story was pivotal in understanding why we needed to develop a lesson about PGD.
As was true for GeneSights, signing up for MyJewishGeneticHealth.com is free, and obviously does not replace regular medical care or visits with your doctor. We hope this lesson will help inform you and your loved ones about the process and utility of PGD!
Come learn with us!
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
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.
I am finding that more and more of my patients believe that what they read on a website is the absolute truth. The problem is that while the internet has great resources for just about anything, it’s important to take everything you read with a grain of salt. Often people who have had bad experiences write about them for the public to read; facts are misconstrued and blame is placed on the wrong people.
My husband, who recently broke his kneecap and had obsessively googled for information about this injury, went to his orthopedist and asked him why he was choosing a particular method of treatment over another one. The doctor replied, “What do you do for a living?” He said, “I practice immigration law.” The doctor responded, “ And I am not pretending that I do.”
I encourage you to do research and keep up with what’s new in medicine and genetics. Your providers will appreciate having an interested patient! However, I urge you to be careful and to get your information from trustworthy websites. Don’t take what you read from disgruntled parents and patients seriously. Each case is different and while some people might have had bad experiences, it does not mean that you will too.
Here are some great (and reputable!) resources:
Last week I had the privilege of participating in a four hour course in a simulation center. For those of you who don’t know what a simulation center is, it’s basically a learning environment that simulates medical scenarios using robots and technologies, with the end goal being to improve patient care and safety. The audience was physicians and nurses in the Ob/Gyn field, since the course centered on a common problem encountered during labor and delivery. And then there I was–random scientist–there primarily as an observer (but I also got the chance to do a little role playing).
It was an unforgettable experience. And there was a plethora of observations and take home messages—here are a few (I guess those of you following my blogs have figured out that I am a list-making type of person):
1-New methods of teaching (and the right teacher!) make all the difference in absorbing and retaining the information (and also enjoying the class). We wrote on white boards, read to ourselves, worked in small groups, heard relevant anecdotes, moved from room to room, and took advantage of state-of-the-art computer, robotic, and audiovisual technologies.
2-The ability of doctor/nurse teams to react to and overcome medical emergencies is beyond astonishing. I didn’t really appreciate this until I saw this in the simulation, as the real-obstetrician-playing-the-role-of-the-obstetrician was literally sweating and panting as she directed her team and exhausted her procedural options on a dummy until she achieved success.
3-Premeditated plans need to be in place to deal with crisis situations, and not just ones in the simulated or real hospital settings. During the crisis, someone needs to assume the leadership role and assign roles to others. Communication has to be maintained throughout, with frequent and unambiguous updates. When things have quieted down, the team needs to debrief, and they also need to debrief others involved. Think about applying this model to mini-crises that happen at home or in the office.
4-There are words that should be said, and others that should be avoided, as they relate to the ramifications post-crisis. Specifically, our teacher repeated and repeated that, during a “situation,” healthcare professionals should refrain from telling the patient that “it’s gonna be okay,” since it is confusing during an emergency and can open up the medical team to litigation in the event that things don’t turn out okay. For personal reasons, I immediately related to that piece of advice and wished more physicians could hear it. And then, when I later that morning played the role of nurse-calming-the-woman (dummy)-in-labor…what was the first thing I said? IT’S GONNA BE OKAY! I knew it was my comforting (and novice) side talking, but I still felt like an idiot.
On that note, you may be thinking now, what does this blog post even have to do with genetics? The answer is nothing at all. I just wanted to share how valuable it is to be able to step into someone else’s world for just a short while, to gain an appreciation for what they do and even learn a new lesson or two.
I have never written a very personal blog before but I feel like the time is right. You see, my oldest child just was admitted to the college of her choice. So, I have a lot to be grateful for. I am very proud that over the years I (almost) always made my family my first priority, and that I invested in each of my children according to their unique talents and needs. I feel that I was especially sensitized to the concept of “each child being a gift,” because I lost several pregnancies over multiple years.
While my family and friends knew what I was going through, I never thought that I would be sharing this personal information with total strangers. However, I do think that The Gene Scene is an opportune forum to mention some lessons that I have learned from my experiences:
1- Pregnancy loss is very common. Most of the time miscarriages occur before the woman even knows she is pregnant, where the rate is about 50% of all pregnancies. Among those women who know they are pregnant, the miscarriage rate is about 15-20%.
2- You may think that it’s possible to put past pregnancy losses behind oneself, especially as time marches on and if there are already or are subsequently other children in the family. But, honestly, I still think about my losses almost every day. Like when I pass places that vividly remind me of those difficult time periods. Or when I hear about friends having their fifth or sixth babies. Or when I read articles about children who are the victims of child abuse and neglect. Don’t get me wrong—I lead a very full and happy life. But, there is a dull wound that persists.
3- If you know someone who is dealing with a pregnancy loss and you have dealt with one yourself, offer to be there as an empathetic source of support (but do not force the issue). I think there is a “pay it forward” concept involved here—if someone helped you, you should be there to comfort someone else. Studies have shown that the supportiveness of the environment one is in immediately following a stressful situation can play a crucial role in healing.
4- I have learned not to ask people if they have children, or how many children they have; instead I wait until those details are offered. On a similar note, I have learned not to say that a child “looks exactly”, or on the other hand, “looks nothing”, like his/her parents. You never know when there can be stories and associated hardship involved.
Finally, my personal experiences definitely helped in guiding my own career path towards our Program for Jewish Genetic Health. Being able to turn something negative into something positive has undoubtedly been a major redeeming feature of my own healing process.
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.