The Emergent Utility Human Genomics in Clinics, in Populations and in Homes

When our conference began in 1995, Human Genetics and Genomics was largely a small community of investigators positionally cloning genes and mutations underlying Mendelian disorders and/or studying evolutionary patterns using small numbers of genes and markers. The Human Genome project was years away from completion and everyone doing important work in the field fit into a 500 person auditorium. Today, human genetics and genomics has become central to a myriad of fields. Drug discovery is being driven by the hunt for so-called protective loss of function mutations. Direct-to-consumer companies (and similar efforts) give people the tools to retrace their ancestry, learn carrier status for a host of Mendelian disorders, estimate risk for complex disease, and connect with long lost relatives (including biological parents or offspring). Major medical centers (and now even community hospitals) are launching ambitious efforts to genotype (or sequence) their patient population. In short, the future is here. The purpose of our conference is to bring together thought leaders from academia, industry, government, and the non-profit sector, along with students, post-docs, and junior investigators who are building much of this world. Be prepared for spirited debate, and to challenge what you think you know about human genetics and genomics and what it all means for us as investigators, patients, and people.