Rarecast

The Genomic Answers for Kids program at Children's Mercy Kansas City has increased access to cutting-edge genomic sequencing for children suspected of having rare genetic diseases and improved the diagnostic yield of these tests. The program has collected samples from 8,000 rare disease patients and their family members and diagnosed about 2,000 people to date. Nevertheless, payers have been reluctant to increase reimbursement rates for more comprehensive genomic testing, posing a challenge to its sustained and expanded use for children who can benefit from it. We spoke to Tomi Pastinen, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City, about the success of the program to date, the reimbursement challenges, and the future of the technology.