Abstract
Medical genetics company Invitae said the company will offer all patients who have used its exome test routine, case-level reanalysis of the results every six months for at least three years to aid in providing answers for difficult-to-diagnose conditions. As the knowledgebase of the genetic causes of disease continue to rapidly expand, Invitae says the reanalysis will help some patients uncover links between their genomic variants and their health, based on new research.
“New information on gene-disease relationships is discovered at a rapid pace in this fast-moving field, and each additional piece of information has the potential to benefit a patient,” said Robert Nussbaum, M.D., chief medical officer of Invitae. “We want to ensure our patients and their clinicians have continually updated findings so we can help shorten the diagnostic odyssey for as many patients as possible.”
The move to offer reanalysis makes Invitate one of the only companies offering such a service and comes as the American College of Medical Genetics and Genomics (ACMG) guidelines note that reanalysis of sequence data can increase by up to 20% of the patients who receive relevant information that can lead to better clinical care or a diagnosis of their disease. Currently, Nussbaum notes, many patients can go years without receiving an accurate diagnosis.
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