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. PCPs often do not have specialized genetics training and may not feel equipped to engage in a discussion about DTC-GT, but they are well-positioned to explore the perceived benefits and limitations of DTC-GT with their patients. Limitations of DTC-GT include risk for false positive or false negative results, risk for unintended information, and risk for privacy invasion. We provide a resource for PCPs to use when approaching the topic of DTC-GT with their patients including how to discuss motivations for pursuing and concerns about DTC-GT, as well as the limitations and implications of this testing. We hope this resource can guide fruitful conversations between PCPs and patients who are looking for support from their trusted physician while considering DTC-GT or interpreting their results.

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. We describe two infant patients who were initially thought to have trisomy 18, but for whom chromosome studies were normal. Additionally, we briefly review the historical background of the Anabaptist Hutterite populations in South Dakota, compare the clinical findings in BCS and trisomy 18 and discuss the importance of genetic counseling for couples of Hutterite descent.