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Take the test not the risk
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Friday 22nd June 2018

Eighteen years ago, while living in New York and studying Genetic Counselling at Mount Sinai School of Medicine, I was offered the chance to find out if I was a carrier for a range of genetic disorders, including Tay Sachs disease, that are increased in the Ashkenazi Jewish population. Despite my student involvement in JSoc and UJS, I had never been offered any Jewish genetic screening in the UK, and so I signed up. Fortunately, the results all came back negative.

I returned to the UK in 2005 and found out that there was still no Jewish genetic screening available in the UK. I couldn't help but think how fortunate I had been to have had the screening in the USA. I was always concerned that my friends, family and community did not have the opportunity to have genetic screening as I had, prior to starting a family.


However, this has all changed now, and the community no longer has to live with such uncertainty. Since 2014, the charity Jnetics has offered carrier screening for nine of the most severe, recessive genetic disorders that are more common in people of Ashkenazi Jewish ancestry and has now screened over 1500 people. Moreover, Jnetics not only has a London-based office but has recently opened a Manchester office to ensure that Jewish communities outside of London can also access their services. In partnership with the NHS, Jnetics now supports a weekly clinic based at Barnet Hospital. This partnership also offers a virtual service for people who live outside of London, allowing Jewish genetic screening to be arranged by post and phone. In addition to the NHS clinic, Jnetics provides education and screening via their GENEius programme (
www.geneius.org) for Year 12 students in Jewish Secondary schools. The programme is currently being developed to also include Jewish university students and engaged couples.

So why should you sign up for the screening? It is estimated that every Ashkenazi Jew has a one in five chance of being a carrier for at least one of the following nine Jewish genetic disorders that are included in the screening programme: Tay Sachs Disease, Cystic Fibrosis, Familial Dysautonomia, Canavan Disease, Glygogen Storage Disorder (type 1a), Bloom Syndrome, Fanconi Anaemia, (type C), Niemann-Pick Disease (type A) and Mucolipidosis type IV. Like Tay Sachs Disease, these disorders are all inherited in a recessive way, meaning that a carrier does not have symptoms of the disease, but if they have a partner who is a carrier of the same disease, then as a “carrier couple”, they have a one in four chance with each pregnancy of having a child affected with the disease. As such, affected children can often be born to families with no known family history of the disease. The nine Jewish genetic disorders are all severe and most result in death prior to adulthood and lack effective treatment. The best time to screen for these conditions is before starting a family, which gives “carrier couples” the greatest number of reproductive options available both before and during pregnancy in order to have an unaffected child.

Such is my belief in the importance of this screening, that I have spent four years volunteering for Jnetics, also working with my local synagogue, Radlett United, to promote the service in my community. One such couple who took part from my community, Dani and Anthony Goodmaker, were amongst the first to be screened in the UK, and said of their experience: “We took part in the screening with Jnetics several years ago, but it is only after the birth of our first child, who is now a year old, that we fully appreciated the peace of mind that came with having taken part in the Jewish Genetic screening. In our opinion it is a small price to pay and we are so lucky to be able to find out such important information before planning a family, whatever the results may be”.

The Jnetics screening service is available for anyone with at least one Ashkenazi Jewish grandparent and is recommended for both individuals over the age of sixteen and couples. For more information or to book a screening session (including a virtual session if you live outside of London) visit www.jnetics.org and go to the screening and testing section.

Juliette Harris, PhD
Jnetics Screening Adviser