Whole-Genome Sequencing as Part of Newborn Screening?

Should whole-genome sequencing be used in the public-health programs that screen newborns for rare conditions?

That question is likely to stir debate in coming years in many of the more-than-60 countries that provide newborn screening, as whole-genome sequencing (WGS) becomes increasingly affordable and reliable. Newborn screening programs – which involve drawing a few drops of blood from a newborn’s heel – have been in place since the late 1960s, and are credited with having saved thousands of lives by identifying certain genetic, endocrine or metabolic disorders that can be treated effectively when caught early enough. Advocates of routine WGS for newborns argue that the new technology could help detect and manage a wider array of disorders.

But the possibility of making whole-genome sequencing part of routine screening programs for newborns raises ethical, legal and social issues that should be weighed carefully, according to researchers at McGill University’s Department of Human Genetics in Montreal.

In an article published March 26 in the journal Science Translational Medicine, Prof. Bartha M. Knoppers and colleagues lay out key questions and considerations to be addressed...