Blog Archives

Exciting News from the Program!

group gc flyerAfter months of planning, the Program for Jewish Genetic Health is proud to announce the launch of our group genetic counseling sessions with testing for common Ashkenazi genetic diseases. This has been a long time coming and we are very excited to finally open this up to the public!

The backstory: Our program has had many successful genetic testing events at different campuses and synagogues over the years. But we have been seeing that many past participants contact us years later for an extra copy of their results because they are either in the dating/marriage or family planning stage and finally need their results for important decision-making. Pretty much every patient who calls gets an earful from me about how his or her results may be outdated, as new tests were likely added to the panel since the testing was done.

Our program leadership has been struggling with our official stance on when we believe carrier screening should be done. Since some will use their results in the pre-dating or dating phase, maybe it would make sense to recommend testing early on (think college time). But many will choose a partner and only use their results when starting to think about building a family. If those people got tested at 19 years old and will only use the results years later, chances are the testing is outdated.

The brainstorming: After much back-and-forth about this, we decided that we would not be going ‘on the road’ to campus screening events any more. We believe that the best time to get testing is before contemplating a pregnancy; and that may mean a different thing to everyone. We think that it should be up to the individual to decide when is the most appropriate time to get tested and we should not be imposing a time-frame on college students.

So how should people get tested? Until now, we have been seeing patients one-on-one in our clinical offices. In those sessions, the individual meets with a genetic counselor and a detailed medical and family history is obtained. The genetic counselor then recommends a panel of tests depending on what was reported during the session. The costs involved may differ from one patient to another since different tests may be recommended.

But for the patients who have no family history of genetic conditions or are not of mixed ancestry, the testing and genetic counseling is standard and quite straightforward. We still like the campus screening model of providing affordable and efficient carrier screening, and so we decided to try a new model of group sessions for the more “straightforward” cases.

The details: Our group sessions will be held on Fridays at 9 AM in our Bronx location. For these sessions, we are partnering with JScreen, a genetic testing group that relies on generous donors to offset the cost of testing. There will be a minimal cost for the counseling (which will likely be covered by insurance) and the total cost for testing will be $99. Pre-registration is required.

While these sessions are not a one-size-fits all, they certainly will be helpful to many. Take a look at our PJGH testing website for more information on registering for an appointment and to learn more about whether the group setting is right for you.

We look forward to meeting you!

Finally! A Genetic Test for Sephardi and Mizrahis Too

DNA code analysis

For years, when we got inquiries from Sephardi or Mizrahi patients about preconception genetic testing, we would respond that there is currently no testing panel as there is for our Ashkenazi patients. And we would feel bad about that because we know that, like in many other ethnicities, there are genetic diseases which are common in Sephardi and Mizrahi populations too.

When we hosted a genetic testing event at Yeshiva University in 2013, our flyer included a call-out to the Sephardi students to contact us privately and not to register for the event. Turns out, 22 interested students were disqualified from the event, and I have no idea how many actually called us to come in for private counseling and testing. My guess is zero.

Since the genetics for Sephardi and Mizrahi Jews differ by country of origin (and there many countries with Jews), genetics labs never really made it a priority to develop testing panels. After all, why should they develop tests that a tiny number of people will actually need? So we were left between a rock and a hard place; on the one hand, we encourage people to get tested for diseases common to individuals of their ethnicity, but on the other hand, we are unable to order any testing. We were essentially pushing a product we didn’t have.

This all changed about a month ago, when we started offering a new panel that was developed for Jews of all backgrounds. This new panel is made of 96 diseases; 48 of them are common in Ashkenazis, 38 in Sephardi/Mizrahis, and 10 overlap between the groups (it is a very large panel!). Here are some of the things that we have been finding since we upgraded:

  • People think they know what their ancestry is, but are surprised to find out they may be more mixed than they thought. A patient of ours could have sworn he was 100% Ashkenazi, but he came back as carrier for a disease that is common in Yemenite Jews. When he asked his grandmother if there was something he didn’t know, he learned that he had some North African ancestors!
  • The more diseases we screen for, the more likely someone will be a carrier. We used to say that about 1 in 3 people will screen positive for something. But so far, I think we have only had one patient who was not a carrier of anything on the panel. And of course, being a carrier, in general has no effect on one’s health and should not be considered a stigma.
  • Even though we have tripled the amount of diseases on our testing panel, the ‘classic’ Jewish diseases are still ‘classic.’ I would have thought that the more diseases we screen for, we would see a wider array of results, but we have been seeing that those diseases that have been on the panel since the beginning (the common ones, like Tay Sachs and Gaucher) are still the ones that we have been picking up most often.
  • We have  had a Jewish history lesson for our genetic counselors helping them understand the different migrations of Jews over the course of history, and how ‘Ashkenazi’, ‘Sephardi’, and ‘Mizrahi’ Jews came to be.

The bottom line is that carrier screening is recommended before contemplating a pregnancy for anyone that is at least ¼ Jewish. It doesn’t make a difference if one has mixed ancestry, if he/she knows that a relative tested negative in the past, or if he/she chooses to affiliate with a movement within Judaism. Our genes do not choose to be transmitted only to the “more Jewish” people. Most of the diseases on the panel are a burden on the affected person and the family and testing a couple before a pregnancy is one of the best preventative actions one can take to avoid heartache. Visit PJGHtesting.com to learn more about the testing.

Update Your Genetic Testing! A Different Perspective

to do listLast year I blogged about the importance of updating your preconception carrier screening between pregnancies since new diseases are added to the testing panels pretty often.  This is a topic I am very passionate about and always tell my patients, friends, and relatives. More recently, I started to think about the idea of “updating genetic testing” from a different perspective.

When I take family histories in a cancer genetic counseling session, my patients often tell me that a relative had cancer years ago, but he/she did genetic testing and was negative (ie- had normal results). While this information may be helpful, I often tell them that if the genetic testing was done a while ago, they may want to get more testing done since there are now better testing options in the realm of cancer genetics than there were years ago.

“Updating” in the preconception realm generally refers to adding on additional diseases to the panel, and in the cancer and pediatric realms, it can refer to repeating a test that was already done, using a different testing method with a better detection rate, or pursuing genetic testing–for different genes–that was not available at the time.

Let’s look at individuals who have strong personal or family histories of breast/ovarian cancer (“high risk”) as an example.  In 1996, ‘sequencing’ (scanning the entire gene) for both BRCA1 and BRCA2 became commercially available through Myriad Genetics, the only BRCA testing lab at the time.  At that time, we had already identified that there are three mutations in these genes that are more common among Ashkenazi Jews. Since about 95% of Ashkenazis who have a BRCA mutation will have one of these three mutations, genetic counselors would order ‘multisite’ testing (genetic testing for those three mutations only) for their Ashkenazi high risk patients. As research has advanced, new techniques with higher detection rates were introduced to the market. In 2002, Myriad added a new test to identify 5 large rearrangements in the BRCA genes and in 2006, they added ‘BART’ testing, which looks for large deletions and duplications throughout both genes. With each new technology applied to genetic testing in the same gene, the detection rate has gotten higher. Since then, genetics professionals have recommended that high risk Ashkenazi Jews who test negative for the three common Ashkenazi mutations complete additional genetic testing in the BRCA1 and BRCA2 genes– full sequencing and BART testing. Multisite testing is still used as the first step (and sometimes only step) of testing Ashkenazis, since it is likely that if one has a mutation, it is one of those three. And to take it a step further, high risk individuals who test negative for all known BRCA mutations are being offered genetic testing for panels of many genes known to be associated with breast/ovarian cancer.

So when my patient with a very strong family history of ovarian cancer tells me that her affected sister had BRCA testing in 2001 and had normal results, I feel a slight sense of relief, but I still have concerns that there is a hereditary component to the family’s cancer. I recommend that they come back in for more comprehensive testing, if possible. The same holds true for pediatric or adult patients with genetic concerns that have not been identified.

Just as family histories are dynamic, and people may develop medical issues over time, so too, the availability and breadth of genetic testing is not static and is expanding at a fast pace. I now tell most of my patients to check back with us in a year or two, because more information or more testing may be available at that time. While it may be hard to keep up, a consultation with a genetic counselor who is knowledgeable in the field might be very helpful to you and your family.  You can find a genetic counselor near you at www.nsgc.org.

Genetic testing: A personal decision

right decisionAs a genetic counselor, I often get asked the dreaded question of “what would you do?” It might seem like there is one correct answer when it comes to the decision of whether or not to pursue genetic testing, but in reality, there is not. One’s decision about genetic testing (Should I pursue genetic testing at all? What type of genetic testing? How extensive should the genetic testing be? When should I pursue genetic testing?) is very dependent on one’s personal circumstances, past experiences, and attitudes.

For the past 5 years, I have consistently worked in a prenatal genetic counseling setting, among other specialty areas. Prenatal genetic counseling deals with genetic testing done during pregnancy for a variety of reasons. There are now many prenatal genetic tests which are out there and available to women during pregnancy. As a prenatal genetic counselor, I know the ins and outs of these tests like the back of my hand, have ordered and interpreted these tests for countless women and couples, and for some, I have advocated for the use of these tests, as they can often provide valuable and actionable information.

I am now almost 9 months pregnant, and even with all the knowledge I have about prenatal testing, genetic diseases, and various abnormalities which can be detected during pregnancy, my decision was to forego almost all of the genetic tests which are currently available, and instead, consistently remind myself that most babies are born healthy.

Even when additional genetic carrier screening became available in the middle of my pregnancy, I opted to wait to update my testing, in order to avoid unnecessary stress and anxiety. I will update my carrier screening at an appropriate time for me, which is not in the middle of my pregnancy.

And yet, many of my genetic counseling colleagues (since we obviously all discuss what we would do…) would choose the complete opposite route. They would do extensive prenatal genetic testing, extensive carrier screening, and want to find out as much information as possible about the genetic make-up of their baby.

Which is the “correct” decision? Well, we each make the correct decision for ourselves. Knowing myself, and knowing all of the many genetic testing options out there, the “low tech” route was correct for me. Someone else? Well, that person will need to weigh the options and figure out which route is correct for them. Genetic testing is always a personal decision. Only you can answer the “Do I want to know?”, “Will this information be helpful for me?”, “Is now the right time?”, and “How will I use this information?” types of questions in order to come to the correct answer for you.

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!

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.

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!

The “Other” Genetic Test

Fragile-X-infographic-400-square-300x300When people inquire about how many diseases are on our Ashkenazi panel, we tell them that we currently offer screening for 18 conditions that are distinctly Ashkenazi , plus another two that are common in all populations. I have already blogged about spinal muscular atrophy, the first of those “extras”.  Today I want to review why screening for the other one, fragile X syndrome, is more complex.

Fragile X syndrome is the most common inherited form of mental retardation in boys. Affected individuals demonstrate varying degrees of intellectual and behavioral disability, sensory disorders, connective tissue problems, and physical features. About 1 in 250 women are carriers of fragile X syndrome.

When we offer fragile X screening in our clinic, we find that some patients decline. This is because fragile X carrier screening is not the same as screening for the other 19 autosomal recessive conditions. Why?

Firstly, fragile X syndrome is not recessive; it is X-linked. In the context of pre-conception screening for the next generation, only females are screened for fragile X syndrome.  If you are a carrier of an X- linked disease, you are at risk to have an affected child, regardless of your partner’s results.  Therefore, finding out that you a carrier of an X- linked disease may have a more significant impact than finding out you are a carrier of a recessive disease.

Secondly, fragile X carriers may have certain health issues. While we usually tell our patients that being a carrier has no impact on your health, this may not be true of fragile X carriers. Female premutation carriers have a 20-30% risk of developing “primary ovarian insufficiency.” This condition may lead to infertility and/or early menopause.  Male premutation carriers have a 30-40% risk for Fragile X Associated Tremor/Ataxia syndrome (FXTAS), which is often compared to Parkinson’s disease. Female fragile X carriers can develop FXTAS as well (~8% risk), however it is more common in males. So while carriers will not develop fragile X syndrome, they may at risk to develop other medical conditions. Some people want to learn more about their own health risks, while others come in to learn about their offspring only.

Finally, fragile X screening results may not be as simple as “carrier” or “non-carrier”.  I am not going to go into a detailed lesson about the fragile X mutation in this blog, but the take home message is that one may be identified as an “intermediate carrier,” which is basically a pre-carrier. This person is not a carrier, so her child will most likely not be affected with fragile X. But the mutation may change over time, causing generations down the line to become true carriers ( what we call “premutation carriers”). Some patients are confused as how to proceed with prenatal or preconception genetic testing when they learn they are intermediate carriers.

So you can see why fragile X screening is not so simple. Currently, the American College of Medical Genetics and Genomics only recommends screening women for fragile X if there is a family history of it or any other form of mental retardation, or if the patient asks for it. There is no doubt that getting screened may be helpful for family planning purposes, but it may come with a price tag of more information than you had initially wanted.

To learn more about fragile X syndrome, visit the National Fragile X Foundation. They have a fantastic infographic about fragile X (part of which is shown at the top of this blog).

Back to the Swing of Things

swingWelcome back! Summer vacations have come to an end, we’ve passed the Labor Day mark, school is back in session, and we’ve reached the never ending season of Jewish holidays. We’re finally (almost) back to regular swing of things.

Here at the Program for Jewish Genetic Health, we’re also really excited about kicking off the New Year. We recently reflected on some of the projects we’ve been working on, and have realized that we have quite a bit to be proud of!

We’ve been trying to spread information and education about genetics and how it impacts the Jewish community. This past January, Estie wrote an article for the Jewish Press  talking about the importance of preconception carrier screening, and just this past August, she wrote another article explaining the importance and utility of genetic counseling. I wrote an article which appeared in the Jewish Press about BRCA related hereditary cancers and the usefulness of genetic testing.

Over the past year, we launched our GeneSights online education platform, as well as three lessons; Genetics 101, Hereditary Breast and Ovarian Cancer (BRCA1 and BRCA1), and Inflammatory Bowel Disease: Crohn’s Disease and Ulcerative Colitis. Our next lesson:  Preconception Carrier Screening: Tay Sachs and many other diseases, has already been filmed, and we’re planning to launch it this October or November!

We’ve given numerous in-person talks and educational events in and around the NY area as well as in Memphis, TN, Chicago, IL, and Phoenix, AZ. In addition to community education, we’ve focused on educating Rabbis, community leaders, and healthcare providers about some of these important issues. We have a number of new educational events scheduled and in the works for the upcoming year!

Aside from being able to help coordinate carrier screening at our clinical offices at Montefiore, we’ve also held a community screen this year at Columbia University. Our annual community screen for Stern College, YU, and the Mount Sinai Washington Heights community is coming up soon, and will be on November 10th, 2013 (hope to see you there!).

To me, the fall has always felt like a time of new beginnings. As I child, I loved going back to school, learning new things, and getting a fresh new start. Here at the Program for Jewish Genetic Health we have lots of new and exciting projects in the works. We’re hoping that this upcoming year will be a fantastic one for our PJGH family, and for yours.

(And to get back on my soap-box for one more minute, as I’ve done now on numerous occasions, I’ll remind you to find out more about your family medical history. If you’ll be with family over the holidays, use this opportunity to speak with them and gather this important and potentially lifesaving information!)

Forty Years

Operation Gene Screen

Last week I went to a retirement party for Dr. Sachiko (Sachi) Nakagawa, a former colleague of mine from my time in the genetic testing lab at Jacobi Medical Center.   When preparing for the speech I delivered at the party, I reviewed her invaluable contributions in the realm of Tay-Sachs disease screening, and I thought that you all needed to hear a bit (or maybe more than just a bit) about those.

Sachi was trained as a biochemist and ended up here at Einstein in the late 1960s for additional training after receiving her Ph.D.  In the early 1970s, she joined the group of Dr. Harold Nitowsky, who was on the verge of setting up the Tay-Sachs community carrier screening program known as Operation Gene Screen.  To quote Sachi directly, “this is how I ended up doing Tay-Sachs carrier screening till now … and nobody told us we made any mistake for the last 40 years.

Forty years devoted to Tay-Sachs enzyme screening! Hard to imagine—especially if you knew that she hardly missed a day of work or took a vacation!  Sachi must have tested tens of thousands of samples, starting with for the early Einstein screens, and then for commercial laboratories, for infertility clinics, and for Jewish genetic screening programs nationwide, including our own Program for Jewish Genetic Health.   To Sachi, the focus was never the total number of samples—each sample was treated with the utmost care, and each was tested and retested to ensure an accurate classification.

One of Sachi’s most important technical contributions was her development of the platelet assay for Tay-Sachs carrier testing. Until Sachi’s platelet test, Tay-Sachs testing of Hex A enzyme activity was being performed on serum (the part of your blood that is neither a blood cell nor a clotting factor).  While this was a good test for identifying carriers, many samples were yielding inconclusive results. I remember Sachi describing to me her “aha moment.”  While at a scientific conference, she realized that platelets (a component of the blood that is important for clotting) would be a much more homogenous sample than serum, and could possibly overcome the significant number of inconclusives.  And Sachi was correct about this.  Her platelet assay became the gold standard test that not only was a gift to the Jewish screening programs but also helped to identify Tay-Sachs carriers from ethnic backgrounds that were not 100% Ashkenazi Jewish.

Along that line, it is important to recognize that Tay-Sachs disease, in addition to in the Ashkenazi Jewish population,  also is seen more frequently in other populations including the Irish, French Canadian, and Cajun—and this is something that is often overlooked (but see also an earlier blog).  I will never, ever forget an email exchange I had with Sachi when she was asked to confirm a probable diagnosis of Tay-Sachs in a sample from a baby of Irish descent.  “There is no HexA enzyme peak,” she related, “the baby is affected with the disease.” Thankfully, we don’t see much of this anymore in the Jewish population due to the carrier screening programs, and hopefully the same trend will follow in other prone populations in the future.

A co-worker of Sachi’s told me that, on Sachi’s last day in the laboratory she said goodbye to her instrumentation and thanked it for its stellar performance.   And hearing that made me give pause for thought. The world of genetic testing is moving at rapid fire pace these days.  It is important to remember that, before DNA was discovered, and before the genes and mutations associated with specific diseases were characterized, there were biochemical genetic tests, some of which are still being used today (today we test for Tay-Sachs carriers both by looking for mutations on the DNA level and by assessing enzyme levels).  People like Sachi, who developed and ran these tests in the most dedicated manner, will never be forgotten by her colleagues.  I hope that she also will be remembered by the countless screened individuals who benefited from her expertise, as well as by the community as a whole.  Kudos to you, Dr. Sachiko Nakagawa.

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