Linda Avey

Title: Personal Genetics--Lessons Learned and the Opportunities Ahead

The personal genetics industry is less than two years into establishing its footing in this new--and many would argue, controversial--era of individual access to genetic information, based on consumer choice. Proponents of this nascent field herald the benefits of self-empowerment--that knowledge, even if it's incomplete, is better than ignorance. Skeptics, on the other hand, claim that it's too early in the evolution of our understanding of the role genetics plays in our health, that it isn’t standardized1, and that the lay public is generally unable to comprehend this limitation, much less the statistical basis of genetic risk. There is also the concern that the medical establishment is unprepared to deal with the onslaught of patients armed with this rather complex and dense information. Both sides of the debate will be explored.

What tends to be ignored is the value of these personal genetics services as research platforms. The early mission of 23andMe was to create the ability to not only arm individuals with their genetic data through a dynamically updated online interface, but to empower them to be part of research studies of their own choosing. The model for this concept is being established2 and will expand into disease-related phenotypes as cohorts are introduced. The value of combining disease groups into a centralized, standardized analysis platform is yet to be proven but the goal is to challenge existing, "siloed" approaches to disease research. By enabling patient-centric, socially-networked communication, the goal is to bring research into a "2.0" construct.

The concept and protection of privacy is coming under pressure in a number of different ‘spheres’. The genomics sphere is one in which discussion of challenges to privacy has been considerable, but there are analogous discussions in other areas including those concerning biometrics and surveillance; and privacy on the internet. Following E.M.Forster’s ‘only connect’ this presentation argues that important insights may be gained by bringing the spheres together.