New public dialogue finds support for the use of whole genome sequencing in newborn screening – providing that the right safeguards and resources are in place
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.
Professor Sir Mark Caulfield, Chief Scientist at Genomics England, said:
Professor Bob Steele, Chair of the UK National Screening Committee, said:
Tom Saunders, Head of Public Engagement at UK Research and Innovation, said:
Dr Richard Scott, Clinical Director at Genomics England, said:
Chris Wigley, Chief Executive of Genomics England, said:
Download the dialogue report (PDF, 2.8MB)
Download the dialogue report annexes (PDF, 2.8MB)
(the annexe contains workshop plans, stimulus materials and participant pack used in the dialogue)
A recording of the launch event for the public dialogue, with the key findings, responses from the commissioning organisations and interviews with participants is available here.
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