The impact of raw DNA availability and corresponding online interpretation services: A mixed-methods study.

Abstract

Consumer access to third-party services to interpret raw DNA has raised concerns about downstream healthcare implications. This mixed-methods study set out to examine the extent to which genetic counselors have been contacted by consumers of third-party services and describe counselors' experiences with these "consumer" patients. Counselor views on the quality of information provided to consumers were also examined. Eighty-five genetic counselors completed an online survey, of which 22 completed in-depth telephone interviews. Survey and interview data were analyzed and combined using triangulation techniques. Over half (53%) of the survey respondents indicated they had been contacted by a patient following the use of a third-party raw DNA interpretation service. Among counselors contacted, 72% saw at least one patient. Counselors reported challenges unique to this patient population including overemphasis by patients on the validity of the data and patient resistance to information provided by the counselor. Preparation time burden and counselor inexperience and discomfort counseling these patients were additional challenges. Counselors expressed concern about the quality of the raw data and the clarity and usefulness of interpretation reports. Genetic counselors' experiences with consumer's use of third-party DNA interpretation services provide insight on the opportunities and challenges with the availability of raw DNA directly to consumers. Efforts to better support both consumers and genetic service providers are needed to maximize the effective translation of genome-based knowledge for population health.