Exome sequencing (ES) and whole genome sequencing (WGS) are transformative new tools for discovery of genetic risk factors for both rare and common diseases and offer the potential of personalized genetic risk profiling in a single, cost-effective test. Because of the large number of variant results simultaneously identified, the number of results with potential clinical utility-including those that are unanticipated, and the evolving utility of results over time-use of these technologies challenges existing models of returning results to research subjects and patients.

Advances in psychiatric genetics are likely to offer major diagnostic and therapeutic benefits, but also legal and social-related risks, to individuals who were diagnosed with, or have a proclivity for, psychiatric disorders. In response, courts and policy-makers will have to ensure that psychiatric genetic data are used to promote, and not to obstruct, equality, justice, and social inclusion.

Precision medicine is an emerging approach for disease treatment and prevention that takes into account individual variability in genes, environment, and lifestyle for each person. The Precision Medicine Initiative (PMI) was recently launched by the NIH to accelerate the pace of discovery. Though initially focused on cancer, the PMI will eventually generate knowledge applicable to a range of diseases, including infectious diseases.

The overall goal of this proposed project is to systematically develop culturally appropriate model ethics guidelines for conducting genetics and genomics research (GGR) in Uganda.

Project Summary The breakneck pace of development towards potential uses of germline gene editing (GGE) in medicine raises some very crucial ethical questions. Though much research still needs to be done before GGE will be safe for use on humans, the technology has progressed very rapidly over the past few years. Among the most pressing of the ethical issues raised by GGE are those concerning human subjects research. Future clinical trials will confront novel ethical conundrums that are difficult to resolve given current guidelines.

For nearly three decades, the National Human Genome Research Institute (NHGRI) has supported the study of the ethical, legal and social implications (ELSI) of genetic and genomic research for individuals, families and communities and supported the growth of a generation of ELSI researchers. ELSI research has developed into a multidisciplinary field that spans the humanities, social sciences, natural sciences, engineering, medicine and law.

PROJECT NARRATIVE The goal of the biennial ELSI Congress is to provide a dedicated, regularly scheduled meeting for researchers focused on the ethical, legal and social implications of genetic and genomic research and its translation into clinical care.