Genome sequencing currently costs less than $10,000, but some say the price will soon drop below $1000, making it affordable for millions of people. How will this change medicine and affect you? Genome Quest CEO Richard Resnick says that in the hands of an educated clinical geneticist, pathologist, or oncologist, the technology can finally be used to make health care predictive, preventive, personalized and participatory.
What’s the Big Idea?
Consider the case of the now 14-year-old twins Alexis and Noah Beery, who were diagnosed with cerebral palsy at age 2. As they grew, their parents sensed that the symptoms didn’t match the diagnosis so ordered a genome sequencing. What they found was stunning. The twins had a rare condition, dopa responsive dystonia, which was easily treated with a serotonin precursor drug. Once condemned to a life of profound disability, they are now effectively normal.