UK-wide whole genome sequencing for newborns is feasible – but there are some key questions to answer first

pharmaphorum November 23, 2021
Sukhvinder Nijhar Nicklen

Genomics England, the Department of Health and Social Care’s genome-sequencing hub, has this year announced that support for whole genome sequencing (WGS) has reached a level at which its national rollout on the NHS may someday become a reality.

The timing of this announcement is particularly opportune, as increasing knowledge and advances in WGS amongst scientists has resulted in the technology becoming increasingly affordable and effective, making its incorporation into the existing standardised newborn screening (NBS) procedures in the UK a possibility.

There remains a number of critical questions that must be considered before WGS can be deployed as standard practice in the NHS’s provision of neonatal care. What benefits will it bring? Are there any downsides or costs to...

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