DNA in public health screening programmes
摘要
The rapid technological progress makes it possible to use DNA testing in settings outside of clinical genetics services. This implies that public health screening programmes are developing competences in genetics. The field of newborn screening has seen several pilots to offer testing of multiple genes to apparently healthy newborns, and regular newborn screening programs incorporate DNA testing for a handful of conditions, though often as second tier after biochemical testing. Breast cancer screening programmes consider incorporating DNA testing to stratify the programs and thus make them more personalized (WISDOM trial, MyPebs, etc). While research projects are ongoing, many policy makers in the field of public health discuss whether and where DNA testing could be used in population screening programmes.
The EJHG welcomes reviews, commentaries, and original research on the topic of DNA in screening to be submitted before the end of January 2026.