Newborn Screening and Whole Genome Sequencing

A perfect match or an emerging ethical crisis?

Abstract

Canadian newborn screening (NBS) programs are
successful in improving the prognosis of many affected
neonates with early-onset disorders by enabling rapid
diagnosis and treatment. However, many problems still exist
with NBS programs including inconsistent coverage across
provinces or territories, gaps in disease screening, and
variable testing methodologies. Whole-genome sequencing
(WGS) represents an increasingly cost-effective means of
screening all genetic conditions with a single primary assay.
Many benefits of WGS have been cited, including the ability to determine the exact causative mutation of a condition which could enable targeted therapy. Despite this, WGS in NBS carries serious ethical ramifications pertaining to disclosure of results, storage of data, and future development in NBS programs. Due to these factors, we are as-of-yet unprepared to incorporate WGS into Canadian NBS programs.