Expanded carrier screening: What conditions should we screen for?

Carrier screening tests reproductive couples for their risk of having children affected by severe monogenic conditions. Carrier screening has historically been offered for certain conditions in high-risk populations. However, more recent evidence has shown that offering carrier screening to all patients, regardless of ethnicity, more effectively and equitably identifies at-risk couples. Coupled with technology that enables screening for nearly unlimited conditions, this expanded carrier screening (ECS) approach is now supported by professional society guidelines. Here, the authors briefly review the history of carrier screening and guidelines on criteria for panel design. The study then suggests the most critical criteria and thresholds that identify which conditions meet these criteria. Based on these interpretations, the study recommends a core panel of 64 conditions to identify the most at‐risk couples. Widespread adoption of a core panel such as this would result in a marked improvement in the number of patients receiving comprehensive carrier screening.