New genetic test to help uncover diseases prevalent in Ashkenazis

Those carrying genetic diseases more prevalent in people with Ashkenazi Jewish descent will be more easily able to spot them thanks to a new testing method, an American company has claimed.

U.S-based biotechnology firm Good Start Genetics says it has developed a way of screening up to 13 Ashkenazi Jewish genetic disorders in a process known as next-generation sequencing (NGS).

“Out of the approximately 65,000 fertility patients screened using NGS technology for up to 13 Ashkenazi Jewish genetic disorders, 30 per cent of the carriers detected would have been missed using more traditional genotyping screening methods,” said the firm’s assistant medical director Dr. Nicole Faulkner.

One such disease is cystic fibrosis, which affects about 4 percent of Ashkenazi Jews. Researchers say more than half the variants of the disease found by NGS screenings “would have been missed” using traditional techniques.