A new method to identify Ashkenazi disease carriers will be significantly more effective than traditional tests, a US genetics company has announced.
Good Start Genetics (GSG), a Massachusetts-based biotechnology firm, said that the new technique was 30 per cent more successful than established methods.
The company’s assistant medical director Dr Nicole Faulkner explained gains made using the method, known as next-generation sequencing (NGS), at the annual American Society for Reproductive Medicine meeting in Baltimore.
She said: “Our findings prove that out of the approximately 65,000 fertility patients screened using NGS technology for up to 13 Ashkenazi Jewish genetic disorders recommended by medical society guidelines, 30 per cent of the carriers detected would have been missed using more traditional genotyping screening methods”.
She went on to outline the benefits of people getting screened for diseases not typically associated with their ethnicity or religion, a process made easier by NGS.
“While most medical societies recommend targeted carrier screening based on a patient’s ethnicity, next-generation sequencing allows a broader patient base to be more comprehensively screened, leading to a higher detection rate of carriers.
“We continue to see these disease-causing mutations in so-called low-risk populations and in cases where ethnicity is not known, i.e. individuals who might otherwise not be screened.”
In the case of cystic fibrosis, which affects roughly one in 25 Ashkenazi Jews, study author Dr Thomas Mullen said that 53 per cent of the variants of the disease found by NGS screenings “would have been missed” using traditional techniques.
