Appendix C

Statement of Task

Consumer genomics, encompassing both direct-to-consumer (DTC) applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility–focused applications outside of traditional health care to interfacing with clinical care in non-traditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care.

An ad hoc planning committee will plan and conduct a 1-day public workshop to explore the current landscape of consumer genomics and implications for how genetic test information is used or may be used in research and clinical care. Discussions may include topics such as diversity of participant populations, impact on health literacy and engagement, knowledge gaps related to use in clinical care, and data privacy/security concerns. A broad array of stakeholders may take part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications (e.g., consumers, patients), patient advocacy groups, payers,

bioethicists, regulators, and policy makers. The planning committee will develop the workshop agenda, select and invite speakers and discussants, and may moderate the discussions. A proceedings of the presentations and discussions at the workshop will be prepared by a designated rapporteur in accordance with institutional guidelines.