Project Summary: Patient and family groups (PFGs) have long supported rare disease research as fundraisers and advisers. But today, they increasingly drive the research agenda, working in partnership with academic institutions, drug developers, and regulators to shepherd new therapies from basic research to commercialization.

Patient engagement is critical for implementation of the genomic component of precision medicine--with care taken to include the perspectives and needs of patients. Yet many patients may experience significant barriers to understanding genetic information and/or using the electronic patient portals that many health systems are using to meet the terms of meaningful use related to the return of laboratory and test results.