Mount Sinai Expands Genetic Carrier Screening with New Sequencer

The Department of Genetics & Genomic Sciences at the Icahn School of Medicine at Mount Sinai recently announced a major expansion of its Carrier Screening Panel for people of Ashkenazi Jewish descent, based on new research and improved gene analysis capabilities using the new Sequenome Mass Array platform, which GDF helped to fund.

One test can now identify if an individual is carrying any of 38 rare genetic disorders that are common among the Ashkenazi Jewish population – but affect people of other ethnicities as well. The standard panels had previously included 20 known gene disorders, but the Mount Sinai Genetic Testing Laboratory identified an additional 18 recurrent diseases. In a press release, Lisa Edelmann, PhD, Director of the Lab, said. “This is a giant step forward in helping people of Ashkenazi Jewish descent to comprehensively determine their risk for passing on one of these diseases.” Information about rare genetic diseases and their links to certain ethnicities can be found at the Know Your Genes website.