Hospital's genomics institute hopes to offer screening for 400 genetic disorders at locations nationwide
The differences between states, he said, can be stark with one family recently coming to San Diego from Arizona and discovering that their baby suffered from spinal muscular atrophy, a condition that is fatal if not treated shortly after birth. Arizona’s testing panel does not include the condition.
Though there are thought to be more than 7,000 human diseases and conditions with genetic causes, relatively few have proven treatments, though researchers are continually discovering new methods as they treat individual patients. A group of medical geneticists, he said, have been working together for nearly three years now to determine which conditions could reasonably be included on the list of genetic conditions that could reasonably be screened for after birth, and a formal paper on their finds is expected to be published in a peer-reviewed medical journal soon.