Newborn Screening Using Whole Genome Sequencing – Have Your Say by 14th June 2022

06 May 2022

Newborn Screening Using Whole Genome Sequencing – Have Your Say by 14th June 2022

As a member of the UK SMA Newborn Screening Alliance, we continue to pursue the earliest possible introduction of newborn screening. We are expecting the National Screening Committee to begin its review this year, which will remain the top priority for the Alliance. In parallel, the SMA Community has another opportunity to raise the need for newborn screening for SMA via Genomics England’s survey. This survey link below provides the SMA community with another route to raise the need for newborn screening for SMA.

Genomics England announced this week that in 2023 it will begin a research study to explore the potential of using whole genome sequencing to detect a wider number of rare genetic conditions in newborns.

To support this national dialogue, Genomics England has developed five draft principles. These are, broadly, that a genetic variant should only be screened for if:

1. There is strong evidence that it causes a condition

2. That individuals who have the variant would be expected to have symptoms that would significantly impact their quality of life if left untreated

3. Pre-symptomatic or early treatment for the condition has been shown to lead to improved health outcomes for the child, compared to treatment after the onset of conditions

4. There is a minimally invasive confirmatory test that can establish whether or not the child has the condition

5. Conditions screened for are those for which the socially acceptable interventions are equitably accessible for all as standard of care within the NHS.

There will now be a two-step consultation process:

1. A series of facilitated workshops with members of the public, patients (particularly those who are affected by rare conditions), and healthcare professionals. These workshops will take place in May and June 2022

2. An open survey which asks questions on the scope and wording of the five draft principles. This survey is open to all, and will close on 14 June.

After the engagement project, Genomics England will then identify the conditions which should be screened for at the beginning of its pilot research programme. However, the principles and screened-for conditions will be reviewed regularly to ensure they remain fit-for-purpose as research on using whole genome sequencing for newborns evolves.