Medullary Thyroid Carcinoma and Population Screening

In 2014, Geisinger, a nonprofit health system in northeastern and central Pennsylvania and southern New Jersey, partnered with Regeneron Pharmaceuticals to embark into the era of precision medicine with the MyCode Community Health Initiative. Geisinger invited its members to consent to whole-exome sequencing and linked the findings with electronic health record information to identify future targets for medication development and other interventions to improve population health. Patients would be notified through a specifically established MyCode counseling program if they were found to have known, actionable genetic variants.1 The program has been popular; more than 270 000 Geisinger members have now signed up. The expected rate of actionable variants is approximately 3.5%.2 The popularity of the program suggests that as broader testing begins to penetrate US health care outside of specialized programs like the Geisinger one, we can expect to see many more patients in our offices who present after having learned they have one of these variants. In this issue of JAMA Otolaryngology–Head and Neck Surgery, Pichardo et al3 report pathology findings after thyroidectomy in patients identified with RET pathogenic variants through the MyCode program. These findings offer an important early look into the issues we are likely to face as a specialty as these programs spread and how we might interpret and act on RET-positive results of genetic testing in asymptomatic people.

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