Children's Mercy Kansas City (Mo.) researchers found a way to reduce the time to diagnosis for rare disease by 5.5 months.
Local providers are sometimes wary of the benefits of genetic testing for rare disease and have significant constraints in pursuing it themselves, instead relying on referrals to specialists. However, referrals result in long waitlists, delays in clinical assessment, insurance clearance, testing and initiation of diagnosis. Attending multiple visits to urban medical centers can also pose a difficulty for families.
The study, published April 17 in ScienceDirect, worked with a primary care provider in rural Kansas to provide direct-to-provider access to unrestrictive genome testing. The pilot study found that the direct-to-provider exome sequencing program shortened time to diagnosis by a minimum of 5.5 months, compared to the standard referral-to-specialist method.
"We share our experience to encourage future partnerships beyond our center," the study authors wrote. "Our efforts represent just one step in fostering greater diversity and equity in genomic studies."