10 - Carrier Screening and Heterozygote Testing

Abstract

The implementation of carrier screening programs must rely on education and standardization. Both patients and healthcare providers need education about genetic screening programs. This is amply illustrated by the cumulative experiences of the Tay–Sachs disease, β-thalassemia, and cystic fibrosis carrier screening programs. Even if the individual tested receives a negative screening result, it will still be appropriate for the physician to order a diagnostic test if warranted by the clinical circumstances. Subpopulations affected by targeted carrier screening programs also need to be reliably informed about the mutation detection rates and overall clinical utility to ensure that genetic counseling is effective. Literature about the clinical utility of expanded carrier screening panels is growing, and this approach will challenge variant interpretation and genetic counseling strategies.