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Development of Recommendations and Policies for Genetic Variant Reclassification

Hastings Investigator: Erik Parens

Principal Investigator: Paul Appelbaum, Department of Psychiatry, Columbia University College of Physicians and Surgeons

Funder: National Institutes of Health

As genomic sequence data are being produced faster and at lower cost, the most significant challenge in clinical genetic testing today is the classification of gene variants. For one thing, there are marked differences among laboratories in the ways that they classify genetic variants.  In addition, variants that were previously categorized as pathogenic are now known to be benign. And a substantial percentage of gene variants are classified as having unknown significance – in other words, there is inadequate data to determine whether it has an association with a medical condition. There is currently no definitive guidance from professional organizations or opinion leaders about how to handle the reclassification of variants, and the field seems uncertain how to respond. Erik Parens is participating in a working group to define the legal, ethical, and economic aspects to consider and develop possible solutions.