Vayakhel 5774: Way Beyond Tay-Sachs . . . Please Share This!

Click on the graphic above to visit the website of the Jewish Genetic Diseases Consortium.

When I was getting ready for my wedding back in the '70s, my fiance and I were diligently "cutting edge" by getting blood tests for Tay-Sachs before the wedding.  We were two young Ashkenazic Jews and we were under the impression we were covering our bases of genetic vulnerability with that one blood test.

Yesterday morning, The Board of Rabbis of Greater Rhode Island gathered for our monthly meeting.  We received an intelligent, moving, informative briefing by two representatives of The Jewish Genetic Diseases Consortium, a coalition of ten organizations dedicated to the issue of genetic disease.

Shari Ungerleider, the Coalition's Project Coordinator, and Randy Glazer, the Coalition's Chair shared their personal stories of giving birth to children with genetic disease and the dearth of testing and/or mis-reading and misdiagnosis involved in their respective pregnancies.

There are a few points in Ms. Ungerleider's and Ms. Glazer's presentation that were compelling new information for me.  Although I do always think it would be nice if readers of this blog liked what I've written so much that you'd be moved to share the blog with your family and friends . . . this week I am specifically asking you to.  Please use whatever sharing techniques you have at your disposal. 

Here are some of the things I learned:

• It is not that these are "Jewish" diseases:  Genetic diseases are obviously passed on through our genes.  Over the millenia, Jewish people have largely lived in, and married within, self-limiting communities which has created an identifiable gene pool.  You may remember, several years ago, a story hit the news that researched had identified a DNA marker for kohanim.  That research was possible because for so long Jews have tracked our lineage so carefully.  So it is not that these are "Jewish" diseases, but that it is possible to track the incidences of these diseases more easily in Jewish populations.
  
• Where do your family members come from? There are diseases whose frequency is documented in three Jewish backgrounds:  Ashkenazic [central and eastern European origins], Sephardic [western Mediterranean origins] and Mizrahi [eastern Mediterranean origins].  Each of these communities is identifiably subject to a specific list of genetic diseases based on the individual's geographic origins.
  
• It's way more than Tay-Sachs:  The Coalition maintains a list of genetic diseases that should be tested for depending on your genetic roots.  The following comes from the Coalition website:
  

Ashkenazi Diseases
Currently, carrier screening for 19 genetic diseases which affect persons of Ashkenazi Jewish heritage is available (see list below). With advances in genetics this list is likely to grow in the future.

Sephardic and Mizrahi Diseases
There is no single pre-conception screening panel for persons of Sephardic or Mizrahi Jewish background. Persons of Sephardic or Mizrahi background should discuss their own particular family heritage with a doctor or genetic counselor and be screened accordingly.  There are currently 16 genetic diseases that affect persons of Sephardic and Mizrahi Jewish heritage for which screening is available.  Screening recommendations are based on geographic origin.

Cystic Fibrosis and Spinal Muscular Atrophy
Screening for Cystic Fibrosis and Spinal Muscular Atrophy are recommended for persons of all backgrounds. We include them in both the Ashkenazi and Sephardic and Mizrahi disease lists.

• Who should get tested?  Any couple planning on having children should get tested if: 1> both the man and the woman are Jewish (including two Ashkenazic Jews or some combination of Ashkenazic and/or Sephardic and/or Mizrahi). 2> If either the man or the woman are Jewish or have at least one Jewish grandparent.  3> if, as a same-sex couple, the Jewish potential parent is planning on either donating an egg or sperm for the in vitro fertilization.
  
• Seek sophisticated genetic counselling.  Most ob-gyn physicians do not focus sufficiently on the issue of genetic testing.  Your rabbi can obtain a referral for you or you can go directly to the Jewish Genetic Diseases Coalition for a referral.