Author Archives: chaniwiesman
Genetic testing is complicated. No really, it is! Since the concepts of genetics and genetic testing are so abstract for most people, coupled with hearing about all of these new and fancy genetic technologies, people assume a simple genetic test can tell you just about anything. Unfortunately, it can’t. Here are a few things about genetic testing which will hopefully set you straight.
1) We cannot prenatally test for intelligence, height, hair color, or athletic ability. We cannot create designer babies either. This comes up a lot when we think about the ethics of prenatal testing and the fear of eugenics. We can’t test for, or manipulate these traits because we don’t know the gene, genes, combination of both genes and environmental factors which contribute to their development.
2) Prenatal testing at this point is limited to things which are common, or known. We can test your unborn baby for Down syndrome (caused by 3 copies of chromosome 21), or other chromosome abnormalities. However no matter how much testing we do, we cannot test for mental retardation, autism, or even rule out the possibility of any genetic diseases or problem. This is primarily because, as I mentioned before, we don’t know the cause or causes of these things. If there is a specific genetic disease in your family where the gene and mutation has already been identified, we CAN test your baby for that. However when it comes to prenatal genetic testing, we are limited to only being able to test for things when we know EXACTLY which gene we’re looking for, and many times, what specific mutations we’re looking for within the gene.
3) While we can sequence your genome, we can’t really tell you what it all means, yet. As perhaps you have been starting to see, for all that we do know about genetics, we still don’t know a TON. Genetics, and the interplay of our genes and environment are much more complex than you might expect. And in addition to the genes which we know of in the body, there is a large amount of regulatory regions which affect how those genes are expressed. Even the environment can affect how our genes are expressed. Without fully understanding the interplay between our genes, the regulatory regions of our DNA, and our environment, we can’t fully understand and explain the full implications of the genetic “sequence.”
4) Genetic testing does not consist of one “catch all” genetic test. There is no one genetic test which can tell you everything you’ve ever wanted to know about your future health risks, medical issues for your kids, and if you’ll develop cancer in the future. When we do genetic testing, we test usually one specific gene, sometimes even a panel of genes, based on the particular symptoms or family history. That’s why the process of genetic counseling and genetic testing is so thorough. We assess your medical and family history to determine which genetic test should be ordered, since after all, you do have thousands of genes and we aren’t testing them all at once.
At least not yet.
We spend a lot of time talking about Ashkenazi (Eastern European) Jewish Genetic Diseases and testing. But a friend recently asked me, how do we know who is Ashkenazi and who isn’t? The simple answer is, we ask! Every single patient! Most of my patients think it’s a very strange question, and some do question why I’m asking about Jewish ancestry. I explain that there are certain conditions which are more common in different populations, and depending on your specific ethnic background, I may offer additional testing.
A story to illustrate:
A number of years ago I met with a Jamaican woman during her pregnancy. She was coming in for a very routine appointment, for us to review all of her prenatal genetic testing options.
As I was taking her family history, she explained that her husband was Irish, so her older son looks more like her husband, with pale white skin, freckles, and light curly hair, and unfortunately did not appear to be black, even though she is. She also said that often when she takes her son to the park, women think she is his babysitter and not his mother.
When I asked if she has Jewish ancestry, she replied, “Funny you should ask that. My grandfather was Jewish, from Poland!” She then went on to explain that although she does not identify as Jewish, she lives in community where there are a lot of Jewish families, and she sends her son to the local Jewish preschool, since it is one of the better local schools. When she takes her son to the park and he’s running around and playing, he’ll call out to her, saying “Ema! Ema!” (Hebrew for “Mommy! Mommy!”), since that’s what he learns in school. All the other Jewish women in the playground look around wondering who this child belongs to, as she calls out to him “Ema, I mean, Mommy is right here!”
I spoke with her about Ashkenazi Jewish carrier screening, and specifically carrier screening for Tay Sachs disease, as Tay Sachs disease is common in both the Ashkenazi Jewish and Irish populations.
As her appointment came to a close I walked her out of my office and gave her my card. “How do you pronounce your name again?” I explained that the “Ch-“ sound is sometimes difficult to say, but ‘Chani’ roughly translates to ‘Grace’. “Oh, that’s a beautiful name! You know, if this is a girl…” she said, as she pointed to her belly. “No, that’s probably not a good idea.” I said. “If you think it’s frustrating now with your son running around calling you ‘Ema’, it’s going to be much worse if you name your daughter “Chani”.
For better or for worse, regardless of how you identify religiously, if you have Jewish ancestry, you could still be a carrier of a Jewish Genetic Disease. Even having only one Jewish grandparent will cause me to offer you Jewish carrier screening. So especially for those who may never meet with a genetic counselor and are not “identifiable” as Jewish, be sure to mention it to your doctor and ask about Jewish genetic carrier screening!
For a list of conditions we currently screen for, click here.
To be screened through our program visit our genetic testing website.
To find a genetic counselor visit: http://www.nsgc.org/findageneticcounselor/tabid/64/default.aspx
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!
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…
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.
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).
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..
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.
We get a lot of phone calls and emails every day asking about our Ashkenazi Jewish carrier screening program, how it works, and how to set up an appointment. Hopefully this bit of information will be helpful.
- We (the Program for Jewish Genetic Health) provide genetic counseling and carrier screening in the NY-area through our clinical offices at Montefiore Medical Center.
- You must have genetic counseling in order to have your carrier screening through our program.
- Since you are coming in for a genetic counseling visit, we do ask for your physician’s phone number so we can send a copy of your results to your physician.
- Since it is a genetic counseling visit, Montefiore bills your insurance company for the genetic counseling visit. We have you call your insurance company before setting up an appointment to see if the genetic counseling will be covered. For instructions on how to do this, click here. If you don’t check with your insurance company in advance and you get a bill, we CANNOT reduce the price of the office visit.
- If you do not have any health insurance, we offer you a reduced rate of $75 for the office visit. We ask that you contribute $180 towards the cost of your genetic testing and we subsidize the remainder.
- We do not run the genetic testing ourselves. We send the testing out to outside labs. The lab which we use for the majority of your testing bills your insurance company. Even if your insurance company pays NOTHING, the lab will not send you a bill for more than $99. For this reason, we do not ask you to look into insurance coverage for the genetic testing, and we do not deal with insurance companies regarding this.
- It takes ~2-3 weeks to get results from the testing. Once results are in, we call you with the results and send a copy of the results to your doctor and to yourself for your records.
- Once you are ready to set up an appointment, click here and fill out our registration form. Someone will contact you within 2-3 days to set up an appointment. Below are our appointment times:
Tuesdays 8:30am-11:00am and 1:00pm-2:00pm
- For more information, click here to visit our Program’s informational genetic testing website.
If you do not live in the NY-area, try contacting one of these wonderful organizations who provide subsidized carrier screening:
1) The Victor Center http://www.victorcenters.org/screening.cfm
2) The Center for Jewish Genetics (formerly the Chicago Center for Jewish Genetics) http://www.jewishgenetics.org/?q=content/education-and-screening-programs
3) The Jewish Genetic Diseases Center of Greater Phoenix http://www.jewishgeneticsphx.org/
If one of these centers is not local, please visit www.nsgc.org to find a genetic counselor near you.
We’ve already spoken about two of the most common genetics visits (prenatal and pediatric). The third common genetics visit is for cancer genetics. You might be sent to speak to a genetic counselor because you’ve had either a personal or family history of cancer. Usually we are concerned when many individuals in one family are diagnosed with cancer, specifically at young ages (<50 years old). The concern is that the cancer in your family may have been caused by something hereditary, which could then cause yourself or other family members to have a higher risk for cancer than others in the general population.
At a cancer genetics appointment, you won’t necessarily have genetic testing. The majority of the session is spent reviewing your family history . The genetic counselor will ask you a number of questions about all of the individuals in your family who have had cancer (and those who haven’t!). How are they related to you? What kind of cancer did they have? How old were they when they were diagnosed? Has anyone else in the family had genetic testing before? (Speak with your family before going in for your cancer genetics appointment to find out the answers to these questions!)
Once you’d discussed the family history, the genetic counselor/geneticist will let you know how likely they think it is that the cancer in your family is being caused by something inherited and they will educate you about the specific cancer syndromes they are considering and which gene or genes they recommend testing.
“So what if the cancer in my family is inherited? I wouldn’t want to know if I had a higher chance to develop cancer than other people! I’ll probably just get cancer like everyone else did.”
That is definitely one perspective, but the truth is that the area of cancer genetics is one the most empowering area of genetics now-a-days. If we are able to identify individuals who are at an increased risk for cancer, we can recommend increased screening protocols so that cancer can be detected at an earlier and treatable stage. Additionally, some individuals with a hereditary increased risk for cancer may decide to use chemoprevention (medications which may reduce cancer risk for some women) or undergo preventive surgeries in order to reduce their risk for cancer.
The final decision of whether or not to undergo genetic testing is ultimately up to you, but the genetic counseling visit is vital in order to determine what gene or genes should be tested, and to provide you with the information you need to make that decision.
This coming Thanksgiving (2012) will be the 9th annual National Family History Day, a day on which families typically gather together and are encouraged to openly discuss their family health history, so this important information can guide family members and their physicians in making appropriate screening and management decisions.
Why is family health history important, you ask?
Whenever you meet with a genetics professional, they will take a family history, or pedigree.
For a genetic counselor or a medical geneticist, the family history is a crucial evaluation. In some cases it is your baseline health screening. In other cases, it helps to identify whether or not there is a concerning pattern in the family of individuals being affected with similar or related conditions. Family history risk assessment is a critical tool in my arsenal, and is much quicker and extremely less expensive than genetic testing. It often indicates to us which gene or genes should be tested, who in the family should be tested, and when genetic testing is unavailable, our reliable family history still provides us with guidance regarding possible genetic and health risks in the family and helps us determine if a condition in question is isolated or identify who else in the family is at risk.
The downside of using family history as a unique and vital screening tool is that most individuals are terrible historians. There are many reasons for this. Families rarely sit down together and talk about their medical problems. “Cousin Sarah is quite ill. She was diagnosed with something. Maybe it was cervical cancer. Maybe it was ovarian cancer. Maybe it was an infection, I’m not quite sure.” “My sister had a baby who passed away, but I’m not sure why. They never explained if the baby was sick or what happened exactly.” This is often for the benefit of the individual who is ill, so that he or she retains some privacy.
Many families are secretive about their medical issues. It is not uncommon to not know medical information about parts of the family that one is not in contact with anymore. “I have 4 brothers and sisters, but I only talk to my brother Jeff. I don’t know if my other siblings are healthy.” “My mom has 3 sisters, but we don’t talk to Aunt Susie or Uncle Ben’s families. I’m not even sure how many kids they have.” Sometimes the affected family member is far away, in another state or country perhaps, and it is difficult to find out what exactly happened. It is not uncommon to have limited information about their family health histories, even though this information is valuable and could have far reaching implications for individuals and their families.
Use the following steps to ensure that your family health history is accurate and up to date.
1) Start by creating a family tree. List all of your relatives starting with your children, your siblings, and your parents. Then list your grandparents, each of your parents siblings (your aunts and uncles), and their children (your first cousins). Add on new family members as they are born.
2) Record the medical history for each individual. Indicate the medical issues for each individual, including the specifics of the diagnoses as well as the age of diagnosis. For those family members who have passed away, indicate the age at which they passed away as well as the cause of their deaths.
3) Update your family history at a set time each year. It’s possible for a variety of reasons that you will not be notified when something has changed in your family’s health history. Set a time once a year when the family is gathered together to discuss and record the family health history.
The CDC’s Office of Public Health Genomics collaborated with the U.S. Surgeon General and other federal agencies to develop a Web-based tool called “My Family Health Portrait” https://familyhistory.hhs.gov/fhh-web/home.action. This online resource is designed to help individuals record their family health history.
Your “family history day” doesn’t need to be Thanksgiving, but be sure to set a day each year to openly discuss your family health history and record it so that this vital information can be available to help direct you and your family’s healthcare and management.