Mount Sinai Genetic Testing Laboratory Nearly Doubles Diseases Covered by Ashkenazi Jewish Carrier Screening Panel
With expanded screening test, 50 percent of Ashkenazi Jewish individuals are expected to be identified as carriers of at least one of the 38 diseases.
The Icahn School of Medicine at Mount Sinai today announced the launch of its Expanded Carrier Screening Panel for people of Ashkenazi Jewish descent. This test increases the number of diseases covered from 20 to 38, giving Ashkenazi Jewish individuals a 1 in 2 chance of being a carrier for at least one of the diseases. The 18 new diseases were added based on population screening studies performed by scientists at the Mount Sinai Genetic Testing Laboratory.
There are several genetic diseases that occur at increased frequencies in the Ashkenazi Jewish population. Because disease inheritance can be autosomal recessive or X-linked, many people are carriers without knowing it. Mount Sinai has been setting the bar for Ashkenazi Jewish carrier screening since 1997, when the Genetic Testing Laboratory initiated the triple-screen for Tay-Sachs disease, cystic fibrosis, and Gaucher disease. Additional disorders have been added steadily over the years as new genes were discovered.
Scientists at the Genetic Testing Laboratory recently conducted targeted mutation screening for disorders that were previously not included in standard Ashkenazi Jewish panels or were newly discovered in these patients. Based on screening of more than 2,000 Ashkenazi Jewish individuals, scientists identified 18 disorders as recurrent, with frequencies ranging from 1 in 36 to 1 in 373. For three of the disorders — Alport syndrome, multiple sulphatase deficiency, and dyskeratosis congenita — patients were seen by members of the Division of Medical Genetics at Mount Sinai, and the causative mutations were discovered through research studies and additional clinical testing.
“We have made consistent incremental progress with carrier screening for the Ashkenazi Jewish population since 1997, but this new screening panel represents the first major expansion of the test,” said Lisa Edelmann, PhD, Director of the Mount Sinai Genetic Testing Laboratory. “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.”
In addition to conducting the carrier screening panel at Mount Sinai, the Genetic Testing Laboratory will partner with additional commercial entities to make the testing more widely available.
“Feedback from clients, advocacy groups, and commercial testing organizations about this expanded panel has been very encouraging,” said Ruth Kornreich, PhD, Director of Molecular Genetics at the Mount Sinai Genetic Testing Laboratory. “The positive responses have been due in part to our reputation in delivering comprehensive carrier screening to the Ashkenazi Jewish community.”
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Mount Sinai Health System is one of the largest academic medical systems in the New York metro area, with more than 43,000 employees working across eight hospitals, over 400 outpatient practices, nearly 300 labs, a school of nursing, and a leading school of medicine and graduate education. Mount Sinai advances health for all people, everywhere, by taking on the most complex health care challenges of our time — discovering and applying new scientific learning and knowledge; developing safer, more effective treatments; educating the next generation of medical leaders and innovators; and supporting local communities by delivering high-quality care to all who need it.
Through the integration of its hospitals, labs, and schools, Mount Sinai offers comprehensive health care solutions from birth through geriatrics, leveraging innovative approaches such as artificial intelligence and informatics while keeping patients’ medical and emotional needs at the center of all treatment. The Health System includes approximately 7,300 primary and specialty care physicians; 13 joint-venture outpatient surgery centers throughout the five boroughs of New York City, Westchester, Long Island, and Florida; and more than 30 affiliated community health centers. We are consistently ranked by U.S. News & World Report's Best Hospitals, receiving high "Honor Roll" status, and are highly ranked: No. 1 in Geriatrics and top 20 in Cardiology/Heart Surgery, Diabetes/Endocrinology, Gastroenterology/GI Surgery, Neurology/Neurosurgery, Orthopedics, Pulmonology/Lung Surgery, Rehabilitation, and Urology. New York Eye and Ear Infirmary of Mount Sinai is ranked No. 12 in Ophthalmology. U.S. News & World Report’s “Best Children’s Hospitals” ranks Mount Sinai Kravis Children's Hospital among the country’s best in several pediatric specialties.