An overview of reproductive carrier screening panels for autosomal recessive and/or X‐linked conditions: How much do we know?

Abstract

AbstractBackground & AimReproductive carrier screening seeks to identify couples at a high risk of having offspring affected by autosomal recessive and X‐linked (XL) conditions. The aim of this paper is to provide a comprehensive overview of existing carrier screening panels by examining their gene content and characteristics, identifying the most common genes/conditions included in these panels, and analyzing their listed prices.MethodsA comprehensive evaluation of existing carrier screening panels was conducted by searching for web‐based content, reviewing information brochures, and establishing direct contact with the providers via email or phone.ResultsTwenty‐two panels and their providers were identified with a cumulative total of 2205 unique genes. The number of genes included in these panels varied from 44 to 2054. Only 15 genes (0.7%) were included in all the panels. The carrier frequency of these 15 common genes and their associated conditions varied greatly, but the conditions associated with the genes are “severe”. The price of these 22 panels ranged from $349 to $4320 per couple (USD in 2023). The correlation between the listed price and the number of selected genes among these panels was small and not statistically significant (r = 0.1023, p = 0.6959).ConclusionConsiderable discrepancies exist among carrier screening panels. Ongoing research and monitoring are necessary to capture the dynamic nature of the carrier screening landscape, providing up‐to‐date information for clinical practice and informed decision‐making.