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Making the Rare Diseases Rarer?

ImageOver the past week, I received two emails from parents of children with severe and rare genetic diseases. Both emails were very heartfelt and informative. One of the emails ended with this plea: Can you add this disorder to your list and maybe prevent some suffering?

Currently, the PJGH is offering screening for 18 diseases that have known ‘founder mutations’ in the Ashkenazi Jewish (AJ) population.  In addition to these 18 diseases, the PJGH also offers screening for 2 other common diseases that do not have AJ founder mutations. Genetics centers around the country have different opinions when it comes to adding on more tests to the core 18 AJ diseases (and I encourage you to do your research when you decide which panel to use). But the overall consensus is that genetic counseling should accompany any genetic testing that goes on, and not all diseases on a panel are created equal.

So how do I respond to the father of a child with a devastating genetic disease that is not included in the core panel? Certainly he has a point- he and his family have suffered immensely and he wants to help others avoid going through the same thing. However, to be perfectly blunt, there are tons of terrible diseases out there, and the genetics professionals just cannot test for each and every one on the population level. If geneticists have identified a mutation in the affected individual, then it’s a different story and genetic testing of other current and future family members is much more feasible.

So why can’t we test on the population level? Well, for starters, we do not (yet) know about the causative mutations for each and every genetic disease. Also, the methods of accurate testing may differ from disease to disease, and the detection rate may not be as high as we would like for each of these diseases (so someone who tests negative for something may have a false sense of security).

To be most efficient, we now test for the common diseases that have known founder mutations, whose natural history is understood and is severe, and whose testing has a high rate of detecting carriers instead of missing them.  It is hard for me to tell parents of kids whose diseases do not meet these criteria that we cannot add them to our panel because it makes it sound like their diseases are not as “significant” or “bad” as the ones we do include on the panel.  This is absolutely not true.

In the future, more sophisticated technologies such as whole genome sequencing may change this. Such methods of testing are already being used to classify rare diseases in children. But at this point, it’s just not reasonable. I wish we could test for everything and avoid heartache, but for now, we need to stick to what makes the most sense.

There are resources out there for people with rare disorders and their families. Be sure to check out:

The National Organization for Rare Disorders

The Office of Rare Disease Research (helps recruit individuals with rare diseases for research studies)

Rare Disease Day (an international advocacy day to bring widespread recognition of rare diseases—always celebrated at Einstein and around the world on the last day of February every year , a particularly rare day if it’s a leap year!)

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…

welcome to holland

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

Beware of Bloggers

Estie2012So 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:

Genetics Home Reference

Genetic Alliance’s Understanding Genetics

MedLine Plus

Understanding Medical Words: A Tutorial from the National Library of Medicine

What to Expect: The Cancer Genetics Appointment


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.

What to Expect: First Trimester Screening

Many of my friends call me in a panic the night before their first trimester prenatal visit to their OBGYN, asking me if they should do the “Down syndrome test.” To be clear, the test they are referring to is the first trimester screen (FTS), which is a test that calculates the risk for the baby to be affected with Down syndrome and two other lethal chromosomal abnormalities (trisomy 18 and trisomy 13). This test consists of an ultrasound measurement of the back of the baby’s neck (AKA the nuchal transulency) and a blood test from the mother, at 11-12 weeks of pregnancy. What I tell my friends is that each person is different and the choice to do or not to do an FTS is entirely dependent on how they feel about it. Here are the facts you should know before making the decision:

1)      FTS is a screening test. It is not a diagnostic test. This means that it will not tell you for sure whether or not the baby is affected. Rather, the results will tell you what the chance is that the baby is affected. To find out for sure, you would have to do a more invasive test (ie, CVS or amniocentesis). These invasive tests come with a slight risk of miscarriage.

2)      Every single woman who is pregnant has a chance for her child to have a chromosome problem. Her ethnicity, her family history, and her past pregnancies have no effect on this. We do know that as women get older, they are more likely to have a baby with a chromosome problem—but it can happen to anyone.

3)      Think about what you would do with the information once you got it. If your FTS showed a high risk for Down syndrome, you would be faced with the decision of doing additional, more invasive testing. If you would consider more invasive testing, , then yes, you should do the FTS. However, if you know that you would not do an invasive test, because of the risk of miscarriage,  fear of the discomfort, or because you have religious beliefs against it, then is it really worth it to stress yourself out about the FTS?  If the results come back with a low risk, then yes, in retrospect, it is worth it. But if the results show a high risk, then you will spend the remainder of your pregnancy worrying. Of course, you won’t know if it was worth it until you get the results. Hindsight is 20/20…

4)      It does not make a difference which one of your friends has done the FTS and which ones have not. Many people ask me if I had an FTS when I was pregnant and my response is, “why should it matter?” We each have our own beliefs and emotions and we should not be basing our decisions on what our friends did. Think about how you feel about these issues and use your own judgment to decide what route is best for you.

So think about it. Is this the right test for you?

What to Expect: The Pediatric Genetics Visit


Why does my child need to see a geneticist or genetic counselor? What happens once we get there?

There are many reasons why someone might end up in a pediatric genetics office. Your child may have been born with a heart problem, cleft lip, or unusual facial features. Maybe your child has speech delay, motor delays, or autism. You might even be there because your pediatrician thinks your child is consistently underweight or a bit too tall for his age. Truth be told, you’re at the pediatric genetics’ office to answer the question; Why? To be more specific, in the genetics’ office we’re trying to answer the question, “Was this caused by something genetic?”.

At the pediatric genetics office, you typically will meet with a genetic counselor who will review with you your pregnancy history, your child’s medical and developmental history, and your family medical history. The genetic counselor will ask you some pretty detailed questions about things you used to know, but that this point, you may hardly remember. Be prepared to answer questions such as: How old was he when he said his first word? When did he start to crawl; to walk? How old was your grandmother when she passed away? What was the cause of her death? How many brothers and sisters did your father have? (As I often say to my patients, we ask very difficult questions in Genetics!) Sometimes the genetics office will send you a questionnaire with these questions for you to fill out at home, before your appointment. Consult with your spouse, parents, siblings, and try to fill in as many details as possible.

If your child has already been evaluated by various specialists, it is crucial for you to bring as many records as possible along to the genetics office. It is important for the genetics team be able to review these evaluations.

Together with a detailed physical exam performed by the geneticist, these histories form a story which the geneticist and genetic counselor use to try and determine if there is an underlying genetic cause for the issues that your child is experiencing. Each piece of the story is another clue which helps the genetics team figure out if they suspect that your child’s issue is genetic, and if any genetic testing would be warranted. Interestingly enough, a big part of your genetics evaluation has NOTHING to do with genetic testing. This shouldn’t be so surprising, as genetics as a field has existed for many years, even before we had that ability to perform any genetic tests.

Most genetic testing in the pediatric realm is done on a blood sample or a urine sample and in rare situations, skin or muscle biopsies may be necessary. The geneticist may recommend that your child undergo other evaluations, such as imaging studies, or that your child be seen by other medical specialists who may have a better grasp on the specific symptoms your child is experiencing.

The end goal of a pediatric genetics visit is to help care for your child in a better way. If your child’s unusual birth marks are isolated, then we may very well just send you home with the recommendation to follow up with a dermatologist every few years. However, if through this evaluation we determine that your child’s usual birth marks are actually part of a genetic syndrome, we might recommend that he see a number of other medical specialists who can monitor him efficiently.

The other benefit of determining if your child’s issues are genetic in nature or not is that it enables the genetics team to provide you with an accurate recurrence risk; meaning, we’ll be able to tell you what the chance is for you to have another child with the same or similar issues.

See? That wasn’t so bad. Maybe you’ll even get stickers at the end, too.

Genetic Pearls: My Recent Chat with a Pioneer in Genetic Counseling

Myrna Ben-Yishay, MS, CGC, has been a genetic counselor for 37 years. After receiving her Master’s degree in Human Genetics at Sarah Lawrence College in 1975, her first job was in Tel Aviv, Israel. The field was unknown at the time and she was the only genetic counselor in the country. Upon returning to New York in 1977 she accepted a position with Dr. Harold Nitowsky, one of the first medical geneticists, at Albert Einstein College of Medicine that later transitioned to Montefiore Medical Center. She recently retired after 35 years. Over her career she had the opportunity to provide genetic counseling for pediatric, prenatal and adult patients. For the past 17 years she specialized in cancer genetic counseling. She has mentored numerous genetic counseling students, medical students, residents and fellows.

Myrna sat down to talk to the PJGH about her experience as a genetic counselor and to give advice to newcomers to the field.

1) How has the field of genetic counseling changed since you started your career?

In the 1970’s our genetic knowledge was very basic. We knew there were 46 chromosomes and thousands of genes. Based on clinical observation of families and case studies, we could determine if a disease was likely to be hereditary and provide families with verbal risk assessment. Over the years the human genome has been sequenced and 20, 000 genes have been identified. Disease causing mutations are now known for many diseases and accurate genetic testing is available to determine who is a carrier or affected with a disease. Families can now be offered precise genetic testing and have the information they need to make informed decisions.

Also, prenatal diagnosis was once limited to women over 35 in order to determine how many chromosomes a fetus had. Today first trimester screening and genetic testing for chromosome abnormalities is available for all pregnant women.

2) What are the most important traits or skills needed to be a good genetic counselor?

Among the many skills required of a genetic counselor  the most important are a solid understanding of molecular genetics and genetic diseases, excellent communication skills, and empathy.

3) What is one piece of advice you have for people who are considering a career in genetic counseling?

I would advise someone to consider becoming a genetic counselor if they are very interested in human genetics, psychology, patient contact, and excited to be in a field where new information is constantly unfolding. My career as a genetic counselor has been personally and professionally rewarding.

Thanks, Myrna!

Lessons Learned from a Patient

As a genetic counselor in the Division of Reproductive Genetics, it is not very often that I see a male patient. This past week, however, I had the honor of seeing a man for cancer genetic counseling. I consider it an honor because this man’s character was so genuine and the feelings he expressed to me were so raw and from the heart, that I walked out of our session with a lot of positivity about life and about what family means to me.

My patient was a 61 year old man who was recently diagnosed with breast cancer. He came to see me because men who carry a BRCA mutation have about a 10% chance of developing breast cancer and his doctor thought BRCA testing may be warranted. Immediately following his diagnosis, he called his daughter (a 34 year old mother of two small children) to tell her the news.  In a panic, she visited her gynecologist who found a small lump and diagnosed her with stage 1 breast cancer. She is currently being treated and is expected to have a good prognosis. When recounting his story, my patient said to me, “I am so thankful to God that I have cancer. If I wouldn’t have found my cancer, my daughter would never have checked and she would have left behind a 4 year old and a 1 year old. I am so lucky.”

Lucky to have cancer?  I have never heard that one before. But those words struck me.  I know it was not his decision to develop cancer, but when he was dealt those cards, he coped quite nicely. This man was able to reflect on the one positive of his horrific situation.  In life, we are handed the short end of the stick from time to time-but we must stay optimistic and look however hard we need to find that glimmer of hope and positivity. I think that I told everyone I have seen since then about my favorite patient. If only we could all be that selfless…

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