Resources

This technical brief collects and summarizes information on genetic tests clinically available in the U.S. to detect genetic markers that predispose to developmental disabilities (DDs). It also identifies, but does not systematically review, existing evidence addressing the tests’ clinical utility. Patient-centered health outcomes and intermediate outcomes are examined. The search identified 672 laboratory-developed tests offered by 63 providers in 29 states. One test identified has been cleared by the FDA. Common genetic testing methods used include array comparative genomic hybridization, microarray, DNA sequencing, and polymerase chain reaction. No studies were identified that directly assessed the impact of genetic testing on health outcomes. Most of the clinical studies identified for indirect assessment of clinical utility are case series reporting on a test’s diagnostic yield.