A new national public dialogue commissioned by Genomics England, the UK National Screening Committee and UK Research and Innovation’s Sciencewise programme finds that members of the public are broadly supportive of the use of whole genome sequencing (WGS) in newborn screening. However, they expect proper consideration to be given to designing and planning any future use of this technology. This, they recommend, includes involving the public and ensuring appropriate resources, investment and safeguards are in place.
The dialogue was designed and delivered by specialists Hopkins van Mil. The findings will be further discussed at a public event today to accompany the publication of their full report.
Over the past few years, as our knowledge of genomics has increased and the cost of genome sequencing has decreased, scientists and medics are beginning to examine the potential pros and cons of using WGS in newborns, for example in newborn screening, to further pursue research on genetic disease, or as a resource to be used throughout the individual’s life.
The ability to sequence and analyse a person’s entire genetic code has the potential to create a seismic shift in the way the NHS works, moving to a more prevention-focused healthcare system. This dialogue aimed to explore public views about using this technology in newborn babies.
The topic raises many ethical and societal issues so the UK National Screening Committee and Genomics England wanted to hear from the public before considering its use in the NHS.
The 130 members of the public involved in the dialogue recommended the following key conditions for the use of whole genome sequencing in newborn babies:
- It would be acceptable to identify a wider set of conditions than the current newborn screening programme if they impact the infant in early childhood and there are treatments and interventions to cure, prevent, slow progression or personalise treatments;
- Genetic counselling and mental health assistance must be available for those who receive a diagnosis;
- A comprehensive genetic database should be established so people from ethnic minority backgrounds are not disadvantaged by receiving more uncertain, or less accurate, diagnoses than the rest of the population.
- The full complexities of WGS must be recognised within consent processes including:
- its implications for the wider family;
- that 21st century families come in many forms;
- while parents give consent on behalf of the newborn, the child may have a different view as they grow up, including on their genomics data being used for research;
- That the screening test has potential to look for many more conditions than current newborn screening tests.
- If consent is sought for genome data to be used for research, the data must be de-identified and used to deliver improved diagnoses, treatment and care.
Genomics has the potential to identify a wider set of conditions than the current NHS newborn screening programme. This could offer us the ability to apply interventions at the earliest opportunity that could cure, prevent or slow down the progression of a range of illnesses and disabilities. It also has the potential to kick-start a revolution in the way we find, and make available, new diagnoses and treatments for children with rare but very serious diseases, and transform their life chances.
The findings from this dialogue have given us an extremely valuable insight into what an ethically and publicly acceptable way of doing this might be. This is the essential first step in identifying and understanding the opportunities, risks, ethical issues, and regulatory implications involved.
It is vitally important that we understand, particularly from those that might one day be asked to participate in newborn screening using whole genome sequencing, what such a programme should involve and what safeguards and information are needed.
This work is a fantastic foundation from which to take forward the exploration of a pilot newborn programme. Along the way we will continue to engage with stakeholders and the public as we develop our plans.
Professor Sir Mark Caulfield
Chief Scientist at Genomics England
The dialogue participants confirmed that in many ways, sequencing and analysing genomes is the easy part. The really difficult questions are around how predictive the results are, what conditions it would be acceptable to look for, what information to give to whom and when, and how to help parents make informed choices about tests that could have important implications for their child, themselves and maybe others in their family.
We heard loud and clear that the right level of support must be available for parents at every stage of the screening process and that any use of genome sequencing in newborn screening has to work for everyone in society.
This report will be of immense value to all the project partners and, we hope, others with an interest in this area. It will help shape future research and provides new and important information that will inform future UK NSC recommendations on the role of WGS in newborn screening.
Professor Bob Steele
Chair of the UK National Screening Committee
UKRI is delighted to support this public dialogue through our Sciencewise programme. Issues like this come with complex ethical and societal considerations and it’s vital to involve the public in discussions about whether and how technologies are taken forward. The findings published today will help ensure advances in UK genomics come with appropriate policy safeguards and that the benefits of these developments are shared widely across society.
Head of Public Engagement at UK Research and Innovation
Participants in this dialogue have told us that, with the right understanding of the potential and limits of how genomic data can be used, this has the potential to transform lives. But without public trust this will not happen.
It’s our responsibility to work with the public and experts in the NHS to identify the conditions it is right to look for and to make sure that the right information, support and resources are in place before we begin to use WGS in this way – and we will take the time to get this right.
Dr Richard Scott
Clinical Director at Genomics England
This report focuses our minds on the families who might choose to have their child’s genome sequenced and ensuring they are at the heart of this conversation. It illustrates the end-to-end support and service that participants expect as we explore the potential of newborn screening, and the lifelong benefits of being able to use insights from our DNA to improve our health. Critically this is being done in close collaboration with our partners and the NHS and in a way that promotes diversity and equality – values that we recognise and to which we remain committed.
Chief Executive of Genomics England