A former genetic counselor investigates personal genomics.
Angrist, an assistant professor at the Duke University Institute for Genome Sciences & Policy, volunteered to participate in the first phase of Harvard University’s Personal Genome Project, which sought to create a publicly available database of hundreds of thousands of individuals. The database would correlate individual genotypes to phenotypes (i.e., observable characteristics), creating an invaluable resource for health providers, researchers and other scientific and medical professionals. Because of bioethical considerations, academics (mostly geneticists) were chosen for the preliminary study. They would be best able to evaluate potential unintended negative consequences for themselves and their families of revealing such information publicly. Angrist discussed the risks with his family before signing a consent form, but he still felt trepidation when the results of his tests became available. He describes how he spent days in “hand-to-hand combat mode, going gene by gene.” Though there were no hidden minefields, he found the information to be frustrating. “I would find mutations in genes that coded for proteins,” he writes, “but the proteins’ ascribed functions would be so general and/or tentative…as to be meaningless. In some cases, the proteins didn’t even have names, let alone functions assigned to them.” Nevertheless, Angrist remained excited, not by “the prospect of digging into my data every day, but by the collective aggregation of genomes and traits and the years of code-breaking we have ahead of us.” He is convinced that that as the database as grows, it will play a part in demystifying the genome and become one of the most important tools for the development of preventative medicine.
Angrist artfully uses his personal experiences to introduce readers to the frontiers of genetic knowledge today and its promise for the future.