How to Approach Direct-to-Consumer Genetic Testing With Your Patients.

Direct-to-consumer genetic testing (DTC-GT) is genetic testing initiated by a consumer through a commercial company without the direct involvement of a physician or genetics professional. DTC-GT companies have developed tests that provide information about one's ancestry, carrier status, and risk to develop certain conditions. As more consumers participate in DTC-GT, primary care providers (PCPs) are at a greater chance to encounter DTC-GT results and conversations in their practice.

Bowen-Conradi: a common Hutterite condition that mimics trisomy 18.

Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive condition having significant clinical overlap with trisomy 18. Though rare in the general population, it is quite common in the Hutterites of the United States and Canada. The carrier frequency in the Hutterite population is estimated to be one in 10, making BCS one of the most commonly inherited genetic diseases in any human group studied to date.