Personal Genomics and Science Policy

Since the end of the Human Genome Project in 2003, there has been a breathtaking reduction in the cost of DNA sequencing. A research tool that was once the preserve of a handful of large-scale sequencing centers is now available to researchers and, increasingly, clinicians and patients looking to guide patient care. As the science charges ahead, various policy implications remain to be dealt with. Where is the line between research and the practice of medicine? Will there be tension between traditional, federally funded research studies and participant-directed genomics? How should incidental research findings be handled? How do we generate evidence of clinical utility with studies where n=1? Is the knowledgebase being built from sufficiently diverse populations? Will patents and proprietary databases become roadblocks, preventing all of society from benefiting for genomics? How can we best educate healthcare providers and the public to have reasonable expectations of genomics?