Next generation of carrier screening

Abstract

Preconception or prenatal carrier screening is an effective approach for preventing devastating recessive diseases. Traditionally, DNA-based carrier testing used targeted genotyping panels to detect common mutations among specific ethnic groups. While the sensitivity of this approach is generally acceptable, private or ultra-rare mutations will be missed. Next generation sequencing (NGS) has been adopted in recent years for carrier screening in order to increase test sensitivity for pan-ethnic individuals. Important issues regarding NGS-based carrier screening panels' workflow design, variant interpretation, reporting, and genetic counseling follow-ups are reviewed and discussed in this chapter.