A new article published in the American Journal of Human Genetics aims to establish a framework for optimising the timing of screening for treatable genetic disorders. The authors identify four points at which critical decisions might be made: prenatal, the newborn period, childhood, and adulthood. They then provide a review of the objectives, current status, and anticipated developments in genetic testing related to each of these periods. Based on their findings, they raise the idea of a “Genomics Passbook,” a living document where the results of an initial genomic screening evaluation could be recorded, and then referred to on an ongoing basis throughout the individual’s life. This document would help guide healthcare decisions and also provide de-identified data for secondary research use. It could also help address disparities in access to both diagnosis and care, particularly for people at risk of developing a rare disease.
(source: Orphanews 12 April 2023)