Carrier screening: An update

Genetic carrier screening (CS) for reproductive decision making was introduced 50 years ago. Technological advances and improvements in knowledge of the human genome makes multi-disease, pan-ethnic CS possible. Such screening will identify most individuals as carriers of at least one autosomal recessive or X-linked recessive disorder. Past experiences and best practices have provided a framework for CS. Although its clinical utilization is increasing, some challenges remain. In this study, several aspects of CS panel implementation have been addressed including how to evaluate the quantitative gene inclusion criteria, how to classify the severity of genetic conditions, how to understand clinical validity at the level of gene-disease association and variant classification, and how to minimize residual risks.

Automated summary

Genetic carrier screening has been introduced 50 years ago and has since been improved. It now allows for multi-disease and pan-ethnic screening, although challenges remain in evaluating gene inclusion criteria, classifying the severity of genetic conditions, understanding clinical validity of gene-disease association and variant classification, and minimizing residual risks.