It has been twelve years since Katie Couric, the American journalist, underwent, on the “Today” show, live colonoscopy. It has been said that this single gusty act (no pun intended), has saved more lives than the entire campaign for the awareness of the importance of colonoscopy. More recently, Angelina Jolie’s mastectomy may have provided a similar effect for the awareness of women to what their genome might tell them about their future health. Jolie’s decision has been the result of awareness on her side, due to her familial history, combined with an ability to affiliate a specific genome sequence with this familial history. The decline in cost for obtaining knowledge about one’s genome, and the computational ability to make sense of these data, have recently seemed to synergize in a manner that would soon allow many people to gain details about their genomes that would eventually lead to life-changing decisions, not unlike the decision Ms Jolie had to make. Dr Dudley and Mr Karczewski’s book, Exploring Personal Genomics, is an inspiring exploration-of-the-possible with today’s personal genomics.
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