Passover and the Seder: Time to be a Historian

sederPassover 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.

You can 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.

 

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!

New Lesson! New Name!

MJGH logoIf 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!

What I learned in Pittsburgh

lightbulbA few weekends ago, I traveled with two other leaders of the Program for Jewish Genetic Health (PJGH) to Pittsburgh, where we were scholars-in-residence for the “Mikey Butler Yahrzeit (memorial) Weekend.”  Mikey Butler succumbed to cystic fibrosis and complications of its treatments when he was 24 years old.  His parents, Nina and Danny, wanted to organize an event in his memory on the 10th anniversary of his death.  Being that Mikey loved his alma mater Yeshiva University, and being that he was “into” genetic testing and technology, having PJGH speakers for this weekend made a lot of sense.  On top of this, we ourselves had experience in “distant Jewish community-based genetics weekends,” as we had a great visit to the Memphis Jewish community in December of 2012.

Mikey’s mom, Nina, mobilized a large segment of Pittsburgh’s Jewish community for the events of the weekend—from doctors to high school students, from grad students to synagogue members and friends.  We gave talks on the myths associated with Jewish genetics, on the future of genetic testing, on the issues of stigma and disclosure as they relate to health, etc.  We heard really nice feedback—things like, “we came because the Butlers are our friends, we didn’t realize the field is so fascinating” and “you left the whole community buzzing.”  And the Pittsburgh folks are already starting to reach out to the PJGH:  a college student whose mom attended a talk called for career advice, a community educator asked for access to our educational videos.  It is estimated that we spoke to around 600-700 people over the weekend—that’s a lot of awareness and teaching over a really short time frame.

But, on the topic of teaching, I myself learned a lot that weekend too.

First, is what I learned from the Butlers.  I learned what it takes to mobilize a community—and I don’t just mean to get sufficient audience members into the room for an event.  There were countless organizations and multiple synagogues involved as sponsors for each and every session—all banded together for this, all of their differences put aside for this.  I also thank the Butlers for teaching me what an “open home” really looks like, for teaching me about family dynamics, for teaching me how one communicates about a child after the loss of that child, and more.

Second, is what I learned about myself—and actually it was Danny Butler who pointed this out to me.   By training I am a molecular biologist, but now primarily I am involved with education/outreach in the field of Jewish genetics.  But, in any of these capacities, when I think about the actual science, I do so through a lens of my Jewish beliefs.  I am simply awed by God’s creations, and this is especially marked when I am observing these creations at the level of the genome.

I am definitely going back to Pittsburgh.

Your Genes are not (always) your Destiny

crystal ball It seems that over the course of any medical show series on TV, there will inevitably be a character who has     been tested for the genetic condition called Huntington’s disease (HD). I’ve seen it a million times between        ER, Grey’s Anatomy, and House, but recently I have even seen it even in the non-hospital setting on           Breaking Bad. In fact, when I googled it, I even came across a Wikipedia page called “List of Huntington’s     disease media depictions.”

So why is Huntington’s such an appealing topic in the media? Well, for starters the progression of the disease is so steep, that it is startling.Huntington’s is a neurodegenerative disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems starting at around age 40. Life expectancy in HD is generally around 20 years following the onset of visible symptoms and there is no treatment or cure. When I was in grad school, I visited the Huntington’s Disease Unit at Terence Cardinal Cooke Health Care Center. I remember meeting a woman who was in her 50s who used to be a law librarian, and also a 40-something year old man who was a former judge in the New York State Supreme Court.Both were obviously very intelligent individuals, but were now experiencing severe muscle jerks called chorea, dementia, and disturbed behavior, among many other neurological problems. I remember leaving the unit that day and calling my husband on my way out to warn him that I would be in a depressed mood.

Huntington’s disease is “100%, or completely, penetrant,” which means that people who have the genetic mutation at birth will definitely develop the disease to some degree at some point in their lives. The interesting thing is that these people are not surprised when it happens to them, because only people who have affected parents will be affected. Affected individuals have a 50% risk of passing the disease mutation to each of their children. So while not all children of affected individuals will inherit the disease, if you do have Huntington’s, you have inevitably seen one of your parents suffer from it before. There are many ethical issues that arise in the realm of genetic testing in Huntington’s families–issues such as when to test an individual, determining the psychological well-being of the individual prior to testing, disclosing this information to partners, and doing prenatal diagnosis with the possibility of selective abortion, to name a few. The combination of the disease course, severity, and these ethical issues obviously makes for good plot lines.

Luckily, most genetic diseases are not 100% penetrant. Individuals who carry the genetic mutation for diseases with “incomplete, or reduced, penetrance” are not guaranteed to develop the disease. Incomplete penetrance often is seen with familial cancer syndromes. For example, many people with a mutation in the BRCA1 or BRCA2 gene will develop breast or ovarian cancer during their lifetime, but some people will not. Individuals with a mutation in a mismatch repair gene associated with Lynch syndrome are likely to develop colon cancer and other GI-related cancers, but this is not definite. Doctors cannot predict which people with these mutations will develop cancer or when the tumors will develop. These familial cancers also may appear to “skip” generations due to incomplete penetrance.

While there is, at this time, nothing that can be done to prevent Huntington’s disease, the good news is that individuals with BRCA or Lynch-related mutations can take actions to reduce their risk of developing cancer.  Carriers may consider risk-reducing surgeries: female BRCA carriers may have mastectomies and/or oophorectomies, and some many individuals with Lynch syndrome will have colonic resections. Additionally, these carriers will increase surveillance with more rigorous screenings (think mammograms and colonoscopies), and many will try to alter their lifestyle with diet and exercise.

Isn’t it encouraging to know that all the stuff you’ve inherited from your parents (the good and the bad) is  not necessarily your fate?

The Law Protects My Genes?!?

DNA code analysis

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.

For more resources on GINA, you can visit the Genetics and Public Policy Center and check out this very helpful compilation by the Human Genome Project.

 

Philip’s Dad, an Inspiration

Last week, my neighbor invited me over to meet his friend, Philip, and Philip’s dad.  Philip is a 26 year old man who has familial dysautonomia (FD). FD is a genetic disease that affects the autonomic nervous system, which controls involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects the sensory nervous system, which controls activities related to the senses, such as taste and the perception of pain, heat, and cold. Many individuals with FD have learning disabilities and many are wheelchair-bound. FD is one of the most common genetic conditions in the Ashkenazi Jewish population, with a carrier frequency of about 1 in 30. Today, Ashkenazi Jews around the world are routinely screened for mutations in the FD gene–among many other diseases–through genetics clinics and private physicians’ offices (click here for screening resources offered by our Program for Jewish Genetic Health). Without the ability to identify and counsel carriers, the disease’s incidence among Ashkenazi babies would be 1 in 3,600!

Philip and his father greeted me with smiles and were eager to talk with me about one of Philip’s fascinations and expertises, the Jewish calendar. Since I am not too familiar with the nuances of the calendar and lunar holidays, we ended up reminiscing about popular Nickelodeon game shows from the 1990s (which was a lot of fun!). Philip’s father stuck around for this conversation. I was surprised since he could have taken a much-needed break to schmooze with the adults in the house. I had a great time talking to Philip—but I also spent a lot of time watching his father.

I thought I would share a few things I learned from Philip’s father, as well as from other parents of kids with genetic diseases and other special needs. These may seem obvious, but I find these to be very helpful in my own day-to-day experiences:

1)      If you try hard enough, you can become a more patient person. Even though it was difficult for Philip to tell long stories, his father would allow him to go at his own pace instead of interjecting.This is definitely the hardest lesson for me to incorporate into my life!

2)      Try to focus on what is, not what is not. When I first saw Philip, I saw a man with difficulties and disabilities, but I noticed that his dad simply viewed him as a son. Maybe I need to change how I perceive things.

3)      Try to turn your difficult situations into something positive for others.  Philip’s dad runs a local fundraiser for FD awareness every year in the community and runs marathons to support finding cures this condition!  And many of the support organizations out there were founded by parents of affected children who felt the need to help other parents who were going through the same experience.

4) Remember to laugh sometimes. I can not count how many times Philip and his dad joked around and laughed about silly things. I sensed that they both try not to focus on the obvious medical issues, but to look at the positive and fun things about life.

Everyone copes with difficulties in different ways, and what I saw from Philip’s dad in that 1 hour does not necessarily reflect how he always behaves. Also, there is no one “right way” when it comes to dealing with individuals with special needs. But from that one 1 hour, I was inspired.

Here are some good resources if you or someone you know would like a place to turn to:

Chai Lifeline, offering a number of services for Jewish children with life threatening illness

Jewish Genetic Disease Consortium, an organization of many smaller, more disease-specific, groups

Ramah Special Needs Programs, providing a range of camping experiences for children with special needs

Yachad, The National Jewish Council for Disabilities, dedicated to addressing the needs of all Jewish individuals with disabilities and ensuring their inclusion in every aspect of Jewish life

The Friendship Circle,  a Jewish organization for children with special needs, with over 79 locations worldwide

“Far from the Tree”, a book by Andrew Solomon telling stories of parents who not only learn to deal with their exceptional children, but also find profound meaning in doing so

Blogger’s note: I wrote this blog about 2 months ago, but never ended up posting it. Philip passed away last week, one week after his 27th birthday. Philip was an inspiration to me and our community.  May God comfort his family , together with all the mourners of Zion and Jerusalem.

You’re a Genetic Counselor?

Genetic CounselorI’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

 

Family Health Histories: We All Have Them

Presentation1

Last Thanksgiving, Chani wrote a great blog post to remind people that family health history is one of the best tools that we have to assess genetic risks for our patients, and to encourage our readers to discuss this topic over the holidays. This Thanksgiving, I am thinking about this some more and I would like to add another element to this theme.

Recently, I have met with several families with mental health issues. Many of them are particularly worried about the stigma that this can have on the affected individual. But beyond that, I am finding that the siblings of those individuals are concerned about their “marriageability.” These siblings worry that they may not be desirable for fear of developing mental illness themselves and of passing on the mental health problem to the next generation.

It is important to note that all forms of mental illness are multifactorial. This means that there is some genetic component that can actually involve multiple genes, as well as some environmental or situational component to trigger its onset. This is why it is not surprising to see that mental illness will ‘run in a family,’ but that not everyone will be affected.  So if a brother has mental illness, each of his siblings and his nieces and nephews will have a higher-than-average risk to develop the same or a related condition, but this is not definite.

Dr. Goldwaser (one of our fantastic genetics attendings) once said something very smart and sensitive that also has been touched on in another blog from our program and at some of our events. We all have something in our families—whether it is mental illness, predisposition to cancer, or more common conditions like diabetes or hypertension. And some of us don’t even realize we have things going on. But the fact is that we are all carriers of about 5-10 autosomal recessive diseases! So while some things may be more public and seem more apparent than others, others are less conspicuous. But they are still there. Nobody is exempt.

I am finding that mental health issues are particularly taboo. People are so scared to talk about this, and even more so, to get involved with families who are affected. This is not unreasonable—we all know which life challenges we think we can handle and which ones we cannot. But I want to urge you this Thanksgiving not only to be open about health history, but to be sensitive to the fact that if you dig deep enough, you will be sure to find something genetic in just about any family. Why should mental health issues be more disqualifying in the realm of marriage compatibility than any other disease?

 

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!

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