Chapter 24 - Heterozygote Testing and Carrier Screening

Abstract

The implementation of carrier screening programs must rely upon education and standardization. Both the affected population and health care 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. Standardization of analytical test platforms will play an increasingly important role as carrier screening programs expand and new ones develop.