Choosing conditions to screen for
Genomics England is co-designing and running a research pilot to explore the benefits, challenges, and practicalities of sequencing the genomes of newborn babies.
One of the primary aims of the Newborn Genomes Programme is to see whether we can use a baby’s genome sequence to find out whether they have one of a number of rare genetic diseases. By identifying these children quickly and early enough, we may be able to intervene to make a difference to that child’s life.
Our work on choosing conditions to screen for
A key decision that the Programme needs to make is exactly which conditions, out of many potential options, should be looked for as part of the pilot. Working with Involve – a public engagement organisation – the Newborns team is examining how these conditions should be chosen, and what questions we need to ask to establish whether a condition should, or should not, be included in the Programme.
The Newborns team has developed a series of case studies which aim to highlight how using whole genome sequencing to screen for conditions could affect newborns and their families. They emphasise how important it is that we get the principles for choosing conditions right.
Giving us your views
To help us to make decisions about which conditions to include, or exclude, from our programme, we have developed five principles to steer us. We developed these principles with an expert working group, led by Dr Emma Baple, a genetics specialist at the University of Exeter. Involve have produced a report of this working group’s discussion of these principles.
These principles are only draft at the moment. Before we decide on what the final principles will look like, we need to hear from people whose lives may be affected by these decisions. This includes parents, people who are planning to be parents, individuals with experience of a rare condition, healthcare professionals, researchers, and members of the public.
In this video, two members of the Newborn Genomes Programme team – Amanda Pichini and Dr David Bick – explain what the draft principles say, and provide details on how people can get involved in telling us what they think of those principles. (video transcript)
Share your views
Complete a survey
To gather people’s views of these principles, we have worked with Involve to a develop a survey, made up of several questions which we would like you to answer. If you would like to contribute, please feel free to answer as many, or as few, of the questions as you wish.
The survey can be accessed via the button below or the QR code.
The survey will close on 14 June. After it closes, the Newborn Genomes Programme will work with Involve to analyse the responses. We will report the outcomes on this page of our website.
At the same time as the survey is open, Involve will be running discussion workshops with members of the public, patients with experience of rare conditions, and healthcare professionals.
In these sessions, there will be discussion of the five draft principles and how they can be used to make decisions on the conditions that the Newborn Genomes Programme will screen for.
We will use the findings from the survey and the discussion workshops to refine and clarify the five draft principles to make sure they are an appropriate, clear, and transparent way to choose genes, conditions, and variants to include in our screening research programme.
If you would like any other information about this engagement project or any other aspect of the Newborn Genomes Programme, please email us.
Our engagement so far
We have been working with a diverse range of communities and groups to understand the ambitions and concerns about using genomics in this way. We will continue to work with them to explore these and to define the key themes and questions we need to look at when designing the pilot.
Together with the UK National Screening Committee, we commissioned an in-depth national dialogue involving a diverse group of 130 members of the public, including individuals with genetic conditions, new/expectant parents, ethnic minorities, and young adults. This initial piece of work found high levels of support and excitement for a pilot, and uncovered some concerns which were fed into our vision. The report and findings were launched in July 2021 at an event attended by 1000+ members of the public.
Expert interviews and engagement
We have interviewed a number of communities with expertise across maternity healthcare, genomic healthcare, ethics, and people with lived experience, in order to road-test our vision and prioritise issues. We will keep talking and listening to the public and experts, and working with bodies such as medical Royal Colleges to obtain the right kind of specialist input. At the same time, we’ll collaborate with parents, families with rare genetic conditions, and professional experts to co-design key elements of the process and ensure equitable access for all communities.
NHS Steering Group
An NHS Steering Group provides support to develop the programme and its design, and understand what is necessary to support the potential rollout of a NHS Newborn WGS service. The group shares ideas, concerns, and expectations as key themes are developed for the design and potential rollout of a pilot.