Biomedicine’s Democratic Revolution
SEATTLE – Very soon, it will be economically feasible to sequence human genomes and collect massive amounts of different types of health data as standard medical practice. Already, there are remarkable examples of how these new genetic data are changing our thinking about disease and diagnosis.
Consider the Beery twins, born in 1996 in San Diego, California. They suffered from chronic vomiting, seizures, and muscle weakness, sending them and their parents on an odyssey of medical examinations and tests. The first diagnosis was cerebral palsy. Then they received a diagnosis of dystonia, a rare neurological disorder. But treatments based on these diagnoses did not alleviate the children’s symptoms.
Frustrated, their parents had the twins’ genomes sequenced. The results revealed that the twins had been incompletely diagnosed. Their previously diagnosed dystonia was being caused by a genetic mutation that was interfering with the neurotransmitter serotonin. The twins’ doctors found that the dystonia could be fully treated with a readily available serotonin replacement.