New genetic screening offered for Jews of Ashkenazi ancestry

Couples planning to start or extend their families were this week being urged to take advantage of a new community service that screens for nine Jewish genetic disorders.

The screening is being offered in North London for the first time next week and whilst current testing is for Tay-Sachs disease only, the new service will identify multiple disorders from a single blood test.

Organisers of the events – the first of which is at The Sternberg Centre on Sunday 9 February – say that screening is relevant for anyone with Ashkenazi Jewish ancestry and of reproducing age.

“One in five Ashkenazi Jews are carriers of at least one of these diseases,” says Katrina Sarig, director of Jewish Genetic Disorders UK (JGD UK).

“We’ve long been aware of Tay-Sachs, but advances in genetics mean we can now identify several other disorders that are also extremely debilitating,” she said. “It could make a real difference.”

Conditions can occur even when there is no known family history, but “being a carrier does not affect your health in any way,” says Dr Ian Ellis, a Consultant Clinical Geneticist at Alder Hey Children’s Hospital.

“It’s only when a couple are both carriers of the same condition that there is a risk of an affected pregnancy,” he said.

Singles can use the information when considering future partners, according to Ellis, who said it could have an impact on the Orthodox community, where most marriages are by introduction.

“If you’re a carrier, you might want to avoid the situation of partnering another carrier,” he said. “Many Charedim use anonymous testing scheme Dor Yeshorim. Results are stored on the database and third parties – often a shadchan or marriage-broker –check if partners carry the same disorders.”

While subsidised, screening costs are not yet being met by the NHS, so there is a £200 charge to cover the lab fees from GreatOrmondStreetHospital.

“We will meet all additional costs, including the venue, equipment and genetic counselling,” said Sarig, whose organisation offers individual information support once the participant’s results had arrived by post.

“If a couple find out that they are both carriers, they have a number of options,” said Ellis. “They can have children and take the risk. They can have pre-natal testing, which raises the difficult question of whether they would terminate the pregnancy if a genetic disorder is detected. Or they can opt for pre-implantation genetic diagnosis, which lets you screen embryos using IVF and identify the healthy embryos before a pregnancy starts.”

Community groups continue to lobby the NHS to pay for the new screening, but Ellis warned that the process was being “bogged down in red tape and political correctness”.