Of the approximately 7,000 rare diseases 80% are genetic. And, more than half of rare diseases affect children.
For patients and their caregivers, one of the more frustrating aspects of rare diseases is the length of time from symptom onset to an accurate diagnosis, which averages 4.8 years.
Last month, together with several colleagues in the House, Representative Eric Swalwell of California reintroduced a bipartisan bill called Advancing Access to Precision Medicine Act. The legislation had originally been proposed in January 2018, and is aimed at promoting the use of genetic and genomic testing to improve healthcare delivery.