Community-oriented, hospital level genetics: a new approach to improve access for underserved communities.

Abstract

Background: Certain populations are at increased risk for genetic syndromes but have limited access to genetic testing.

Methods: We founded a community-based, pediatric genetics clinic in the Muslim-Arab city of Tayibe, Israel. Children with suspected genetic conditions of consanguineous parents, or families with two or more affected siblings were referred by local staff. The clinic was staffed by a Meir Medical Center (MMC) clinical geneticist. Blood samples were collected during the initial visit. Tests were publicly funded, with no parental involvement in administrative procedures required. A control group consisted of MMC pediatric genetics clinic patients.

Results: During the first year, 30 children were assessed. No patients were lost to follow-up, compared to 8 (28%) in the MMC control group. The average time to test results was shorter in the Tayibe group and the diagnostic rate was higher, with 27.6% receiving a diagnosis (42.9%, excluding autism cases).

Conclusion: Our first-year experience shows the success and promising results of this model, with advantages in almost all parameters, compared to the traditional, hospital-based clinic. Factors such as faster time-to-results, greater family adherence and satisfaction, and zero lost to follow-up rate suggest considering implementing this model for providing genetic services to other underserved populations.

Impact: A community-oriented approach for a pediatric genetics clinic allowed reaching high-risk populations, with increased adherence, faster results and a higher yield. Our clinic relied solely on available public funding and staff, requiring no additional contributions. The current dogma of hospital-based genetics services should be reconsidered.