Split over future of genetic screening

By Robyn Rosen, April 14, 2011

Jewish Care, the main provider of Tay-Sachs screening in the Jewish community, has expressed concern that the government advisory body on human genetics has given the green light to free genetic screening to all.

A report by the Human Genetics Commission last week found that pre-conception screening would provide "greater patient choice".

At the moment, genetic testing only occurs if the person knows they are at risk of carrying a genetic condition or belong to a community which has set up its own programme.

One in 27 Ashkenazi Jews is a carrier of Tay-Sachs, a degenerative disease which usually results in death by the age of four.

It is the only Jewish genetic disorder for which an NHS screening programme currently exists.

Other Jewish genetic diseases include familial dysautonomia, (FD) which affects the nervous system, carried by one in 30 Ashkenazi Jews, and Gaucher disease, where the carrier rate is one in 12 Ashkenazi Jews.

Jewish Care provides free Tay-Sachs screening to around 400 Jewish people a year, as well as counselling and advice if the person is a carrier.

Sonia Douek, head of volunteering and community development at Jewish Care, said: "Our concern is that the health authorities are proposing DNA testing, which is only 98 per cent accurate, but cheaper than blood testing which is 100 per cent accurate.

"It may work for some people but not for the strictly Orthodox Jewish community. Because of the stigma within a community with arranged marriages, people don't talk about potential diseases."

The strictly Orthodox community does arrange screenings but results go into a central database and patients do not know the outcome. Instead, matchmakers are given reference numbers and will not match up two carriers.

"NHS results go to the patient as well, which the Charedi community may find difficult," Ms Douek said. "If people don't take this up, it won't minimise the risks."

But others welcomed the report. Katrina Sarig, executive director of Jewish Genetic Disorders UK, said: "We are greatly encouraged by the HGC's endorsement of the value of pre-conception genetic screening.

"As Tay-Sachs is currently the only Jewish genetic disorder for which NHS screening is available, we very much hope that the National Screening Committee [which advises ministers and the NHS] will now widen screening to include the most severe conditions with a higher prevalence in the Jewish community, particularly FD."

Rosalind Jacobs, chair of the Dysautonomia Society of Great Britain, said: "We would be absolutely delighted if the government opened the door to all genetic testing, because we have been fighting for this for years.

"We will continue to push for FD to be included in NHS screening and are meeting the NSC later this year to present our case."

A Department of Health spokesperson said that genetic screening could be a "powerful tool," and that the National Screening Committee would now consider the findings.

Last updated: 12:15pm, April 14 2011