The Mount Sinai Genetic Testing Laboratory’s Executive Director, Lisa Edelmann, PhD, left, and Director, Ruth Kornreich, PhD
The Mount Sinai Genetic Testing Laboratory in January introduced a new panel of comprehensive pan-ethnic carrier screening tests for 281 genetic disorders, the largest currently available. Mount Sinai’s NextStep Carrier Screening also includes the most comprehensive panel of tests for 96 diseases found in the Ashkenazi Jewish population and is the first of its kind to address the largely overlooked needs of the Sephardi and Mizrahi Jewish populations.
“Building on years of in-house genetic research and technology adaptation in our clinical laboratory, we created tests that not only expand the number of diseases screened, but also increase the breadth of coverage, to improve carrier detection rates and provide more accurate residual risk estimates to patients,” says Lisa Edelmann, PhD, Executive Director of the Mount Sinai Genetic Testing Laboratory within the Department of Genetics and Genomic Sciences.
The new carrier tests are designed to help prospective parents more accurately identify whether they carry certain genetic mutations that might affect their offspring. Jewish populations, particularly Ashkenazi Jews, are at increased risk for a wide range of genetic disorders, including Gaucher disease, Tay-Sachs disease, Niemann-Pick disease, Bloom syndrome, and Factor XI deficiency.
According to Dr. Edelmann, between 50 percent and 70 percent of Jewish individuals will screen positive for at least one of the conditions in the new Comprehensive Jewish Panel. “Most of these conditions involve childhood onset and are severely debilitating,” Dr. Edelmann says.
In order to develop additional tests and provide patients with more accurate residual risk estimates, Mount Sinai’s Genetic Testing Lab worked closely with clinical geneticists who see patients for rare diseases and with the bioinformatics team at the Icahn Institute for Genomics and Multiscale Biology.
“We leveraged our expertise with next-generation DNA sequencing along with several other state-of-the-art technologies to deliver the best available carrier screening tests to our physicians and their patients,” says Eric Schadt, PhD, the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, and Founding Director of the Icahn Institute for Genomics and Multiscale Biology.
Six testing technologies are used in parallel to ensure the highest detection rate for each gene. The lab is able to examine a person’s DNA or RNA and the structure of his or her chromosomes, in addition to evaluating, diagnosing, and monitoring treatment of patients with inherited metabolic diseases.
Over the past two decades, the Mount Sinai Genetic Testing Laboratory has become a market leader in the field of carrier testing for genetic diseases.
The lab processes tens of thousands of samples each year. Geneticists and physicians who specialize in obstetrics, maternal fetal medicine, in vitro fertilization, and pediatrics use Mount Sinai’s genetic tests to help them make critical care decisions. Clients also include other major health systems in the New York metropolitan area.