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The cost of genetic testing has plummeted, but it’s still out of reach for thousands of patients. Now, a San Francisco-based biotech company, Invitae, is expanding its suite of tests for neurological disorders, rare diseases, and pediatric conditions at a price point that is designed to be affordable to most people.
Invitae already offers panels, or groups of tests, for a variety of genetic disorders in cardiology, neurology, and pediatrics. It also offers genetic tests to assess a patient’s risk for hereditary cancers such as breast, colon, and pancreatic cancer. In the past few years, it increased its analysis from 200 genes in production to 1,000, meaning it is able to glean a vast amount of genetic content.
What stands out is the company’s pediatric screening, which is designed to complement routine newborn screenings. Today, millions of babies in the U.S. are tested for genetic, endocrine, and metabolic disorders. But about one in every six infants gets a false positive result, according to Invitae’s chief medical officer Robert Nussbaum, who is a practicing medical geneticist at UC San Francisco. Invitae’s pediatric tests examine whether the results are true positives, and, if so, hone in on the best course of treatment.
Read full, original post: Invitae Hopes To Become The “Amazon Of Medical Genetics”