New screening for genetic diseases
A new programme to test for Jewish genetic disorders has been launched, as a report today calls for Anglo-Jewry to be made more aware of a range of conditions more prevalent among Ashkenazim than the general population.
The first ever review of awareness and services related to such diseases in the UK found a lack of consciousness about these illnesses among community organisations and health groups, with the exception of Tay-Sachs and certain types of breast and ovarian cancer.
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It also urges the expansion of screening to include a range of recessive disorders. Tay-Sachs, a fatal disease which causes rapid brain and nervous system deterioration in young children, is currently the only Jewish genetic disorder for which NHS carrier screening is available to the entire Ashkenazi community.
Around one in 30 Ashkenazi Jews is a carrier of the disease. Testing for other Jewish genetic diseases can currently only be obtained on the NHS if there is a family history of that condition. However, some recessive conditions explored in the report are at least as severe as Tay-Sachs. Following dialogue with JGD UK, a pilot screening initiative has been introduced by Guy's and St Thomas' NHS Foundation Trust to identify carriers of eight different recessive conditions including Familial Dysautonomia (one in 30 carries) and Canavan Disease (one in 57), the latter of which is typically fatal before a sufferer reaches their 20s. Great Ormond Street Hospital plans to introduce a comparable screening service.
Katrina Sarig, executive director of JGD UK, said: "We are trying to facilitate access to responsible genetic testing for a number of severe genetic disorders that are more prevalent among Ashkenazi Jews relative to the general population. The purpose is to identify couples that are at real risk of having children affected by these conditions. Two people who are both carriers of a recessive disorder have a one-in-four chance of having a child affected by that condition. But knowing you are a carrier gives couples the opportunity to consider options that could reduce the chances of having affected children, including through IVF-related procedures. There's no reason for not testing for these conditions in the same way as we do for Tay-Sachs."
In stark contrast to the UK, Jewish communities in America, Israel, Canada and Australia have systematic education programmes around a range of disorders. Sarig said: "We have been encouraged by the interest in this project. We have an opportunity to work together to make a difference to the community as a whole, through raising awareness and improving the management of these potentially devastating conditions."
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