In 2023, Genomics England’s Newborn Genomes Programme 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. We’re talking to parents, patients, and the public, as well as experts, to decide the principles we will use to choose which conditions to screen for.
The Newborn Genomes Programme is exploring how it might use whole genome sequencing to screen newborn babies for rare genetic diseases, to identify children that could benefit from treatments and other interventions before they begin to show symptoms.
As part of its work, the Programme – an NHS-embedded pilot that will begin recruiting families next year – is asking people to help it decide what principles should be used to choose conditions that newborns will be screened for.
There may be as many as 7,000 rare diseases, the majority of which have a genetic origin. Three quarters of rare diseases affect children, but some do not, and there are many for which there is still no effective treatment.
For the parents who may be offered whole genome sequencing for their babies as part of our pilot, they need to know which of these many conditions will be looked for, so that they can make an informed decision about whether or not to take part in the study.
Our priority, therefore, is to make sure that we focus on providing the kind of information about their baby’s health that they want to know about, and we can do that by working with them, the wider public, and experts, to create a set of principles that will guide our efforts.
Our public dialogue project gave us some really important perspectives on what kinds of information parents would like to know about their baby’s health, which has informed our work on drafting a set of principles for what conditions we should be looking for – ones that would affect their children when they were young, for example, and those for which there is a treatment or intervention available.
Dr David Bick
Clinical advisor to the Newborn Genomes Programme
With these perspectives in mind, the Programme has developed five draft principles with the support of an expert working group chaired by Dr Emma Baple, Clinical Senior Lecturer in Genomic Medicine at the University of Exeter.
The five principles are, broadly, that a genetic variant should only be screened for if:
- There is strong evidence that it causes a condition
- That individuals who have the variant would be expected to have symptoms that would significantly impact their quality of life if left untreated
- 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
- There is a minimally invasive confirmatory test that can establish whether or not the child has the condition
- Conditions screened for are those for which the socially acceptable interventions are equitably accessible for all as standard of care within the NHS
Existing principles and criteria for screening have been considered in the development of the five draft principles. However, as the Programme is taking a new, research-focused approach to screening, it is taking stock and establishing principles that are bespoke to its aims.
To test these bespoke principles, the Programme is working with Involve – an organisation which facilitates public engagement – on a two-part engagement project. Each part will run simultaneously.
The first part will be 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.
The second part is 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.
The outcomes of the workshops and the online survey will be summarised in a report from Involve which will be published late summer and will inform the Programme’s approach to choosing conditions to screen for.
This engagement project is incredibly important for the Newborn Genomes Programme. Choosing which conditions to screen for is about balancing what we can do with what we should do – and we can only do that with the input of a wide range of people. They might be parents, people planning to be parents, individuals with experience of a rare condition, healthcare workers, or researchers. Whatever people’s reasons for being interested in our work, their views will be integral to how our Programme develops in the UK.
Consultant genetic counsellor working on the NGP
After the engagement project, the Newborn Genomes Programme will be in a position to identify 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.
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