Methodological advances now permit the use of genome-wide association studies (GWAS) to discover novel genotype-phenotype associations. GWAS offer a powerful tool for identifying genetic contributions to both common and rare diseases. At the same time, GWAS raise profound and challenging ethical questions. The most pressing questions derive from the likelihood that GWAS will uncover genetic information with the potential to be clinically meaningful to individual participants.

The Navajo Nation placed a moratorium on genetic research studies in 2002, yet the tribe has high rates of genetic diseases and disorders. Historical distrust, fears of exploitation, and limited understanding of genetic research have played a role in the placement of the moratorium, yet no formal studies have been carried out to date to identify the key concerns, needs and desires of the Navajo regarding genetic research.

Individual institutions across the country have worked to support research in a wide variety of areas, including precision medicine research, by developing large biorepositories comprised of biospecimens and health data collected from local patients and controls. However, these local cohorts rarely provide the diversity and size needed to identify and study subsets of patients who share biological mechanisms for their disease, and are thus more likely to respond to the same targeted therapies.

Background: There is great interest in the implementation of genomic medicine, i.e., using genomic information to inform patient care. As a result, patients with medically actionable (preventable and/or treatable) genetic conditions are being identified, often as an unsolicited secondary finding or a result of screening in the absence of a clinically known condition. The identification of a previously unsuspected medically actionable condition enhances the ability of health care providers' (HCPs) to intervene early to prevent disease.