When the Dor Yeshorim organisation was set up in New York and Israel in 1983, Tay-Sachs disease was rife in the Jewish community. Rabbi Joseph Ekstein, its founder, lost four children to the condition.
The mutated gene that causes the disorder, which usually kills children before the age of 8, is ten times more common among Ashkenazi Jews than in most other ethnic groups. Jewish marriage customs made it highly likely that two carriers would start a family together, with a one in four risk that every child would be affected.
All that has changed. Of ten babies born with the condition in North America in 2003, none was Jewish, and only one child with Tay-Sachs was born in Israel that year. The reason was Dor Yeshorim’s genetic screening initiative. Jewish people are now routinely tested for Tay-Sachs status, and the community’s matchmakers do not pair carriers together. When two carriers do marry, they are offered embryo screening.
The new genetic test developed by Counsyl , a Californian start-up company, is now attempting to do for more than a hundred other genetic conditions what Dor Yeshorim did for Tay-Sachs. By informing prospective parents about the recessive mutations they carry, it should substantially reduce their risk of having children with an inherited disease.
“What we’re doing is simply a scaled-up version of the Jewish community’s successful effort to eradicate Tay-Sachs disease through universal screening,” said Balaji Srinivasan, Counsyl’s co-founder and chief technology officer.
There are more than 6,000 recessive Mendelian diseases, most of them fairly rare. The most common, cystic fibrosis, is carried by about one in 25 Europeans. “But while they are individually rare, they are collectively common,” Dr Srinivasan said. “They affect roughly one in 280 births.”
Screening for these disorders is already offered by the NHS to people with a family history, and to members of at-risk ethnic groups such as people of African descent for sickle-cell anaemia, as well as Ashkenazi Jews.
The Counsyl test, however, breaks new ground by offering a screen for 109 conditions to any adult of reproductive age, regardless of background risk. The goal is to highlight dangers that might be avoided through embryo screening, prenatal testing and abortion or by using donated sperm.
Many leading geneticists support the idea of universal screening. Steven Pinker, of Harvard University, who is an adviser to Counsyl, said: “Universal genetic testing can drastically reduce the incidence of genetic diseases, and may very well eliminate many of them.” When he and his wife took the Counsyl test, it informed them that they were both carriers for familial dysautonomia, a neurological condition with symptoms that include speech and movement problems.
Other geneticists are sceptical, however. Frances Flinter, a consultant clinical geneticist at Guy’s and St Thomas’ Hospital, said the risks for most people were too low to make screening worthwhile. “I find the tone quite concerning, this emphasis on elimination of preventable disease,” she said. “It has a eugenic flavour that makes me really uncomfortable.”
She is also concerned about the accuracy of the test, and the fact that it includes only a fraction of the known recessive disorders. “There’s a risk of false reassurance.If you have a family history of genetic disease, or you are in an ethnic group with an increased risk, I would advise going to your GP for referral if appropriate to a clinical genetics centre. I would not recommend it for the wider population.”
Her concerns are shared by Alastair Kent, director of the Genetic Interest Group, a charity for families affected by inherited disease. “The danger is that you create fear in a situation where it isn’t necessary. It’s another stick with which to beat pregnant women. Most of these conditions are incredibly rare,” he said.
The Bridge clinic in London, which will be the first in Britain to offer the test, will provide it only with genetic counselling. Charlotte Emmerson, who will advise patients at the clinic, said: “The results can have implications not only for reproductive choice but also for the rest of your family. If you are a carrier for cystic fibrosis, there is a good chance that your brother or sister is too. It is so important that patients are fully informed before they go ahead.”
Counsyl will start selling the test over the internet later this year.
when does morristown yeshiva get tested???
do i ahve to take this test????
pls answer me asap
do the test ASAP. saves great deal of unnecessary heartache!!
much much better & wiser to do it now -before you’re dealing w/shidducim rather than once you’re interested in someone.
I couldn’t have said it better! Thank you!
We’re talking here about real life issues. . . about outcomes of lack of the right testing of couples. . where is there room to crack jokes about eating well etc during an article like the one above. . How on earth is that connected to what is being spoken about here?? We’re talking Genetic Testing for LIFE ; Theres a time and a place to discuss ‘junk food’, and this is one place and one time that its totally NOT appropriate. . a bit of respect and understanding and compassion is badly needed here.
one of the best things that happened in the frum world
BS”D
if you really want to live a spiritual life i.e. you want to be more in tune with yourself and your soul, eating well is important.
try cutting out the garbage in your life and see how you feel.
It may make you feel so much happier and calmer.
Acutally, on the other hand it could make you realize how addicted you are to these nasty carcinogens. If you are real crabby, you are addicted.
I say no garbage food. Kosher food should be good for you.
what an oxymoronic statement – kosher garbage food?
I took it this year when I was 16 and they took NINE TUBES OF BLOOD FROM ME! Any drink is fine, becuse it rejuvinates you. So number 1, coke wil not kill you the way you think it will.
Ten years ago when Dor Yeshorim were doing tests on potential couples,the test for FAMILIAL DYSAUTONOMIA (FD) did not yet exist. . it only came to light APRIL 2001; ANYONE who was tested by DY BEFORE THAT TIME, MUST MUST retake the FD genetic test to clarify if both ,husband and wife are carriers of this gene; ONly if BOTH of them are carriers is the risk involved; A member of our family has now been diagnosed with FD and upon taking tests the parents were notified that BOTH were carriers; when they had taken their DY test TEN years… Read more »
Great stuff, BUT to see the coke in the background, is almost a slap in the face! Coke in itself a product that is worthy of discussion and elimination of our diets. in particular young women, future mothers, pregnant or going to become pregnant. BAD BAD HABITS. Areas we CAN have control over should not be overlooked. Lets try and raise healthy children.
Only good news and good things