At the frontiers of science and engineering, promising new technologies are becoming available that will help us address pressing problems in human health and well-being. As the recent history of personal computing has shown, technology is often the easy part. Once into the world, technologies tend to go careening down the well-beaten path toward “better, faster, and cheaper” on a journey that leads ultimately to everyone’s front door. Personal genomic technologies are no different. If you don’t have any DNA sequence of your own yet, you will soon and so will many of your family, friends, and neighbors (and pets too).
Making personal genomes useful is a much more formidable challenge. In medicine, we want to employ personal genomics in the development of therapies that eliminate disease and diagnostics that reduce illness through early detection or prevention. In our personal and family affairs, we want knowledge that enables us to lead fuller lives, to know how our own personal biology interacts with the varied environments and lifestyle choices that makes us who we are and connects us with others.
Low-cost sequencing technologies take us one small step toward achieving such translational goals, but a giant leap remains: connecting personal genomes with personal phenomes. And that, as David Houle reminded us recently, is why we got into this business in the first place:
“We did not begin to study genomes because we care about genotypes; we study genomes because we care about phenotypes, the health and well-being of humans and the diversity of life on Earth. Now is the time to begin to take the study of the phenotype as seriously as we take the study of the genotype. We must number, locate, and measure even the hairs of our heads, the details of the phenotype, so that we can understand which of those details matter.”
To get beyond databases comprised solely of disembodied DNA sequences, we will need the help of individuals who are willing to open up their personal lives and to share the details of their medical histories, physical traits, behaviors, and other phenotypes.
These individuals are the astronauts of our era. By sharing their genomes and phenomes and making them broadly available through participation in public genomics research studies like the Personal Genome Project (PGP), these pioneers will radically accelerate our ability to explore new frontiers of human knowledge. In doing so, they face potential risks. They are putting it on the line for our benefit and for the benefit of future generations. They deserve our support. To the moon!