Personal genomic testing presents challenges for doctors and patients

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Marketing of direct-to-consumer (DTC) personal genomic testing products sets up unrealistic expectations among patients and challenges healthcare providers (HCPs) with interpreting and explaining results, according to a report published online March 1 in the Annals of Internal Medicine.

Cathelijne H. van der Wouden, BSc, from Utrecht University in the Netherlands, and colleagues report findings from the Impact of Personal Genomics (PGen) Study. This large, longitudinal investigation includes individual DNA-based findings and survey results from people who used DTC tests from either 23andMe or Pathway Genomics. The study considered tests most likely to lead to clinical follow-up, such as pharmacogenomic and specific disease risk tests. The researchers developed relative risk scores on the basis of the scales of severity the two companies used.

Overall, 1838 23andMe and 589 Pathway Genomics customers agreed to participate. Of those, 1046 (71.4%) completed surveys at 2 weeks after testing and 1042 (71.2%) did so 6 months after testing. At 6 months, participants were asked with whom they had discussed test results (primary care provider [PCP], genetics specialist, other medical professional), satisfaction with the testing experience, how many results were not understood, how they perceived their PCP’s comprehension of genetics, and whether test results could be used to improve health or learn about genes without a HCP’s input.

Although 909 of the eligible participants (62.1%) said at baseline that they planned to discuss results with a HCP, only 278 (27%) of those who responded at 6 months had done so with their PCP, 78 (8%) with another HCP, and 670 (65%) with none. The primary reason for sharing the data was to improve health.

Read full, original post: Patients Rate Physicians’ Responses to DTC Genomic Testing

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