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Invitae to Perform Genetic Testing to Help Figure out Sudden Death Cause in Young People

NEW YORK (GenomeWeb) – Invitae today said it will provide in-kind genetic testing for arrhythmia for certain cases in the Sudden Death in the Young (SDY) registry so that researchers and medical examiners can learn more about the causes of sudden death and help relatives.

The SDY registry is an active surveillance program for identifying cases of sudden death in people 20 years old and younger. The registry is funded by the National Heart, Lung, and Blood Institute, the National Institute of Neurological Disorders and Stroke, and the Centers for Disease Control and Prevention. The Michigan Public Health Institute manages data coordination for the registry, while the SDY biorepository is housed at the University of Michigan.

Under a collaboration with MPHI and UM, Invitae will provide genetic testing for 900 cases where the cause of death could not be determined by autopsy. The collaboration is for three years, during which time Invitae will offer testing in 10 US regions: San Francisco, Delaware, Georgia, Minnesota, Nevada, New Hampshire, New Jersey, Tennessee, the Tidewater Region of Virginia, and selected counties in Wisconsin.

"Working on the SDY Case Registry will allow for the most clinically relevant and actionable information to be provided back to participating families," Robert Nussbaum, Invitae's chief medical officer, said in a statement. "If a genetic diagnosis is made, the relatives of these individuals are at high risk, up to 50 percent, of also carrying the genetic alteration, so early diagnosis is key to allow for evaluation and intervention before the patient’s relative also presents with sudden death."

This collaboration comes as Invitae recently expanded its test menu, particularly in cardiovascular disease. The firm now tests for 190 genes related to cardiovascular disorders, up from 35, and markets 30 individual panels for arrhythmias, cardiomyopathies, aortopathies, familial hypercholesterolemia, pulmonary hypertension, and congenital heart disease.

This effort will also enable Invitae to work with medical examiners to figure out how many unexplained sudden deaths are due to a genetic, heart-related disorder and develop best practices for incorporating genetic testing into autopsy procedures, Invitae said. Local medical examiners will be able to order Invitae's comprehensive arrhythmia test for autopsy-negative cases. The grantees will garner consent for testing in line with MPHI and state local institutional review boards.