Are we ready for universal genomic sequencing for newborns?

“Over the course of the next few decades, the availability of cheap, efficient DNA sequencing technology will lead to a medical landscape in which each baby's genome is sequenced, and that information is used to shape a lifetime of personalized strategies for disease prevention, detection, and treatment”, said Francis Collins—the current director of the US National Institutes of Health (NIH) in 2014. However, after a 4-year research process funded by NIH, such optimism is not shared in the latest report—Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies—released by The Hastings Center, a US-based, non-partisan, bioethics think tank, last month. The report proposes a nuanced approach to genome sequencing, which means different recommendations for the use of two kinds of genome sequencing (targeted and genome-wide sequencing) in newborns for two purposes (diagnosis and screening) and across three contexts: clinical practice, public health, and direct-to-consumer service. For example, targeted sequencing of a specific genomic region, whole exome, and genome sequencing can be used to assist in the diagnosis of symptomatic newborns, but whole-exome and genome sequencing should be used neither as screening tools for newborns, nor integrated into routine primary or paediatric care. Health-care professionals should recommend against direct-to-consumer sequencing of newborns. Indeed, the recommendations are largely aligned with the opinions of other bioethics groups from Europe and the UK, because current knowledge does not justify universal neonatal screening by genomic sequencing. There are important unresolved scientific and ethical concerns for the use of genomic technologies. Given the great potential to improve health care, particularly in personalised medicine, and its soon to be increasingly expanded use in both medical and non-medical contexts, it is crucial to develop more robust research globally to further understand scientific complexities and uncertainties in sequencing. As the report concludes—“research continues to determine the best applications of sequencing technology in newborns”.