Welcome to Holland: The Stuff I don’t See as a Prenatal Genetic Counselor
For months I have been meaning to write about the book Mi Dor Li Dor, Genetics and Genetic Diseases: Jewish Legal and Ethical Perspectives, by Dr. Deena Zimmerman (an Israeli pediatrician and yoetzet halacha). The book is divided into 3 sections: information about advances in genetics and ethical issues that may arise, facts about common genetic diseases, and the final section is called “Living with Genetic Diseases.” The book is very user-friendly and is a great resource for beginners in genetics, but what interested me most was that last section. While I see the other stuff in my professional life all the time, what Dr. Zimmerman tackles in the last section is the stuff they don’t teach you in school.
Dr. Zimmerman talks about the challenges of raising a child with special needs. As a prenatal genetic counselor, I often talk to my patients about “what to expect” when a prenatal diagnosis is given-whether it’s a diagnosis of Down syndrome, sickle cell disease, or a congenital heart defect. We talk a lot, I give the parents referrals to doctors and support organizations, and then I say goodbye. I tell them I will be there for them if they ever want to talk, but they never do. But I think about them every now and then, and I wonder how they are doing.
I think that only a parent and family of special needs children can understand what it means. Dr. Zimmerman quotes an essay that is probably the best metaphor I could find about what it’s like when one comes to the realization that while you cannot plan how your child will be, you must appreciate your kids the way they are. The essay is written by Emily Perl Kingsley and its called “Welcome to Holland (see below).”
Ultimately, I have learned through work and through personal experiences that the best support one could get is from those who can say “I’ve been there too.” People in similar situations ‘get it’ and they are probably the best people to vent to and to get advice from. While of course family and friends are critical support, I urge anyone going through a hard time to seek out those have experienced similar things via support groups and word of mouth. It can make all the difference.
As an aside, I just heard about a new UJA project called “The New Normal,” which is a blog about disability that is housed on Facebook. Personally, I am thrilled with the title of the page because it shows recognition that even if someone has a disability, they are still normal. But that’s a whole other blog post…
Introducing: GeneSights!
If you haven’t already heard, two weeks ago we launched our new free Jewish Genetics online education series, GeneSights. The GeneSights project has been in the works now for at least a year. It started with our vision of educating the entire Jewish community about medical issues which have a Jewish genetic component, and developed as we crafted a mechanism which would get the word out to as many people as possible, in the most effective way possible.
You see, the traditional models of community education, such as in-person lectures, reach a limited number of people; and although these in-person events can be successful, they can also be complicated by an endless amount of scheduling conflicts, weather mishaps, and traffic jams. Additionally, when we run an event in Teaneck, NJ, it doesn’t really help those living in Memphis, TN, or Cleveland, OH , who may have also been interested in the topic and would benefit from the education.
We got our inspiration from the up and coming world of online education, and in our effort to make this education accessible to anyone at any time, GeneSights was born! The GeneSights platform gives users access to webinar presentations by experts in the field about medical issues that have a Jewish genetic component. Most “lessons” have a short public service announcement (PSA) video associated with them, which gives a snapshot of the condition in question, from a patient’s perspective. Additional resources about the condition and links to outside support organizations are housed on the individual lesson’s page as well.
Our first lesson is about Hereditary Breast and Ovarian Cancer. The associated PSA, Sara’s Story, can be seen here. A two-part introductory lesson, Genetics 101, is pre-loaded on the site as well, and our next lesson that already is in production is on Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis. Future lesson topics will include, Parkinson’s disease, PGD: Preimplantation Genetic Diagnosis, Blood disorders and Bone Marrow Donation, and more! (And yes, we are open to topic suggestions, and would love to hear from you!)
These online lessons are not going to replace our in-person lectures or doctors visits, but we hope that they will help create a rich tapestry of opportunities to become educated about genetics and its impact on your health, and the health of the Jewish community as a whole.
We’re extremely excited to be able to share this resource with the community! Check it out at www.GeneSights.com
Come learn with us!
A Plea for Being Prepared
I recently was introduced to a young woman at a party.When she heard that I am a genetic counselor, she said, “What a coincidence, I need to speak with a genetics expert! You see, I am engaged and my fiancé was tested for Tay-Sachs but I think we may need to do some more genetic testing before we get married.” Feeling good that she met me at the right time, I told her to set up an appointment at our office. “Great,” she replied, “Because we are getting married in 2 weeks and I would like to know the results by the wedding date. “ I tried to dissuade the young woman from getting tested now, since the results would not be back in time for the wedding, and she did not need the extra stress. I told her to enjoy her wedding and contact me before contemplating her first pregnancy. “But we want to get pregnant the night of the wedding,” she replied.
This was not the first time I have heard of this. In some sects of Orthodox Judaism and other religions, couples decide against contraception; they believe that family planning is up to God. And sometimes, even couples who do use methods of birth control may be surprised to get pregnant. My point is, whether or not you take contraceptive measures, there is always a chance you could get pregnant. And this could have added implications if the couple is at increased risk for offspring with a genetic disease.
I am not trying to scare you; I am merely trying to set the stage for my position on carrier screening. If a couple finds out that they are both carriers of a recessive disease such as Tay- Sachs, this means that there is a 1 in4 (or 25%) chance of having an affected child with each pregnancy. Wouldn’t it be better for such a couple to know that they are at risk before getting pregnant? Instead of achieving a pregnancy naturally and taking that 1 in 4 chance, a carrier couple may decide to do in vitro fertilization with pre-implantation genetic diagnosis (what genetics people call “IVF with PGD”). Other couples may opt to use an egg or sperm donor (who is not a carrier of the same disease), and others might decide to adopt or not have children at all. My point is that if a couple knows before getting pregnant, they have more reproductive options available to them.
And what about those couples who do not plan their pregnancies to the day? For instance, consider the woman who decides against using contraception on her wedding night, or the couple whose methods do not do the trick. Those people (ie, could be anyone!) ought to know their carrier status sooner rather than later. It’s always better to be prepared than to find out during a pregnancy when difficult decisions may be on the table, or even later with the birth of an affected child. So remember that you cannot plan everything in life-but for those things that you DO have control over (like going to get screened), why wait?
Click here for a short PSA on the importance of getting tested
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 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…
My Family History Reminder
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.
Revelations on Disclosure
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.
We Get By With A Little Help From Our Friends…
Who of us isn’t guilty of it? You have a legal issue you’re worried about, you run it by your friend, the lawyer! Your son’s fever is just a little too high, you call your neighbor, the pediatrician! And when it comes to your friendly neighborhood genetic issues, I often get some of those calls. To be honest, I don’t mind. My genetics knowledge doesn’t help anyone with scraped knees, bad cuts, or medication related worries, but when it comes to genetics issues, I’m your gal!
Recently I had a fantastic conversation with a good friend. It went something like this:
Friend: I have some good news! We’re expecting!
Me: That’s fantastic! I’m so excited for you guys.
Friend: Oh, I have news for you.
Me: More news? (Something more exciting than that you are expecting??)
Friend: We did the Ashkenazi Jewish genetic testing a couple years ago, neither of us are carriers. I did Fragile X testing, and I’m not a carrier.
Me: That’s great! BUT you should make sure to update your Jewish carrier screening. There are a few more tests since you guys were tested (I think).
Friend: Really?
Me: Yea, if you tell me how many you were tested for- I can tell you what you’re missing and either a genetic counselor or your doctor can order the new ones. My guess is it’s only 2 or 3 more
Friend: Bloom, Canavan, CF, Familial Dysautonomia, Gaucher, Neimann-Pick, Mucolipidosis type IV, Tay-Sachs. That’s it.
Me: Oh. there are actually many more. Don’t freak out. They are not all super common, but it’s good to test just to be sure.
The pdf is the list of 18 Jewish genetic diseases +SMA+Fragile X that i give to my patients.
Friend: They want me to test for spinal muscular atrophy, too.
Me: Yes, I’d add that on too. It’s not a Jewish genetic disease, it’s common in all populations but you fall in to the “all populations” category too. Similar to Fragile X.
Bottom line is, I’m grateful that I can be a resource to my friends about all of the “genetic stuff”, as long as they don’t mind me calling them about my twisted ankle..
Beware of Bloggers
So many of my patients come into their genetic counseling sessions already experts at the topic we are about to discuss. Or so they think…
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:
Genetic Alliance’s Understanding Genetics
Understanding Medical Words: A Tutorial from the National Library of Medicine
Rethinking “it’s gonna be okay”
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.
Disclosure, Part 1: To Tell or Not to Tell, That is the Question
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.
brucelander
chaniwiesman
estierose
nicoleagus
