A major ethical and policy challenge facing genomics research stems from the existing mandate for rapid public release of all sequenced DNA data. It is now clear that an individual can be uniquely identified with access to a small number of SNPs from that person. Genome-wide association studies routinely use more than 100,000 SNPs to genotype individuals, creating privacy risks that are only going to increase as technology advances and electronic databases proliferate.

Targeted gene sequencing using large panels has become an increasingly important strategy for evaluating disease risk for many inherited diseases. Expanded gene panels are more sensitive than single gene testing and often more cost effective than sequential testing, leading to additional diagnostic and prevention opportunities. However, these panels also identify rare variants of uncertain clinical significance (VUS) in many patients.