Humanizing the Human Genome Project
COLD SPRING HARBOR – Since the human genome was first sequenced in 2000, genome science has accelerated at a remarkable rate. Rapid advances in DNA-sequencing technology mean that affordable decoding of the human genome is not far away. In fact, human genomes could be sequenced for as little as $1,000 in the next few years. Unfortunately, the current biomedical research establishment is entirely unprepared for such a scenario.
Researchers often believe that their mission is to uncover new biology and genetics, and that someone else will translate them to the clinical arena. Accordingly, many geneticists have worked on “big-science” genomics, including genome-wide association studies focused on common genetic variation in the human species.
But it is widely known that certain mutations can run in families, increasing dramatically the risks of certain diseases – for example, breast cancer, sickle-cell anemia, and cystic fibrosis. Unfortunately, many human molecular geneticists have abdicated any responsibility for trying to decrease the overall burden of such diseases.