A new report entitled ‘implications of whole genome sequencing for newborn screening’ has been published following a national public dialogue activity.
Commissioned by Genomics England, the UK National Screening Committee and UK Research and Innovation’s Sciencewise programme, the aim of the group was to develop an evidence base to inform future UK National Screening Committee recommendations, and to determine how whole genome sequencing can be implemented for screening in newborns.
To support scientific evidence the group explored how society’s values, beliefs and aspirations should be taken into account when considering the introduction of a screening programme.
The findings are broadly supportive of the use whole genome sequencing 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 report states: “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 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, commented: “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.”
Download the dialogue report here.
