Independent report

Implications of whole genome sequencing for newborn screening (executive summary)

Published 8 July 2021

The implications of whole genome sequencing (WGS) for newborn screening public dialogue was commissioned in September 2020 by Genomics England and the UK National Screening Committee (UK NSC) with support from UK Research and Innovation’s Sciencewise programme. It was designed and delivered by the deliberative engagement specialists Hopkins Van Mil.

1. The public dialogue research question

The research question for the public dialogue was as follows:

What are the implications for the NHS and society of using whole genome sequencing (WGS) for newborn screening?

The question was explored in 2 contexts.

Firstly, the potential use of WGS as a technology in addition to or to replace some parts of the current NHS newborn screening programme (which has defined purposes and criteria). What might be the potential benefits and harms for the baby throughout their lifetime, for parents and the wider family, for others in society, and for the NHS?

Secondly, the potential novel or alternative uses of WGS in newborns – going beyond traditional screening and exploring different purposes (for example, lifetime monitoring, pharmacogenomics, family planning, research, information only), and the potential benefits and harms for the baby throughout their lifetime, for parents and the wider family, and for others in society, and for the NHS.

2. The dialogue process

The dialogue process involved:

• 17 stakeholder interviews
• 11 filmed vox pop interviewees
• 29 speakers and 23 observers
• 7 pilot dialogue participants, covering a broad UK demographic
• 84 public dialogue participants from Scotland, northern England, Wales and Northern Ireland, and southern England
• 49 public dialogue participants representing groups with specific perspectives, including:
  • people and families with genetic conditions
  • people from black, Asian and minority ethnic backgrounds
  • young adults
  • new and expectant parents

The process was guided, challenged and advised by the oversight group and project team.

Participants took part in 5 online dialogue events with reflective tasks between each workshop in a dedicated online space. Each workshop was a mix of plenary and breakout discussions. The fieldwork took place between February and March 2021 using public dialogue best practice in line with Sciencewise guiding principles. Participants reflected on the research question at each workshop drawing on expert presentations, case studies and lived experience examples.

Public dialogue is a qualitative methodology. In this report the subtleties and nuances of participants’ views, concerns, hopes and aspirations are presented. These will inform the development of a pilot research study on using WGS as a technology for newborn screening; discussions about the potential for its use in population screening programmes; and ongoing public involvement in these activities.

3. Main findings

Participants were supportive of the potential use of WGS for newborn screening. They expected proper consideration to be given to designing and planning any future use of this technology. This includes involving the public in integration of the technology into any future research or newborn screening and ensuring appropriate resources, investment and safeguards are in place. The following main findings are to be found in the report:

It would be acceptable to use WGS to identify a wider set of conditions than the current NHS newborn screening programme if:

• the conditions impact the infant in early childhood
• there are treatments and interventions to cure, prevent, or slow progression of the conditions

There is also potential for WGS in newborn screening to bring health benefits to parents, siblings and the wider family.

Genetic counselling and mental health assistance must be available for those who receive a confirmed diagnosis to help them understand the health condition and to provide emotional and psychological support.

A comprehensive genetic database should be established so that people from ethnic minority backgrounds are not disadvantaged by receiving more uncertain, or less accurate, diagnoses than the rest of the population from newborn screening – and the accuracy of diagnosis for everyone is improved.

The full complexities of WGS must be recognised when designing consent processes including:

• the implications of WGS for the wider family
• that 21st century families come in many forms
• that parents give consent on behalf of their child, but the child may have different views as they grow up, including on their genomic 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 WGS data to be used for research, the data must be anonymised and used to deliver improved diagnoses, treatment and care.

4. Responding to the research question

The implications of WGS for newborn screening that participants identified, and their reactions to them, filter throughout the report.

Here are some of the significant implications and reactions.

Implication: the NHS should be prepared to shift to a more prevention focused approach

Reaction: implement staff training and awareness raising throughout the system.

Implication: the cost of an equitable national roll-out could be prohibitive

Reaction: time the programme correctly, making sure cost benefit analyses are drawn from the pilot research study.

Implication: take-up could be affected in a similar way to COVID-19 vaccine scepticism

Reaction: instigate an early programme of engagement, communication and awareness raising and act with transparency.

Implication: conspiracy theories and fake news discourage people from taking part and jeopardise a national implementation plan

Reaction: provide robust evidence of benefits and assessed risks using results from the pilot study.

Implication: people might have unrealistic expectations of what WGS for newborn screening can reveal

Reaction: make sure realistic expectations are set out from the beginning.

Implication: safeguard WGS results from use by insurance/marketing companies and employers

Reaction: ensure future-proofed legislation and governance procedures are in place.

Implication: what society agrees to over the next few years could be overturned by changes in government

Reaction: involve the public in meaningful ways in governance and decision making.

Implication: discrimination could filter in through the back door

Reaction: diverse genomic data sets and global collaboration should be sought and supported.

Implication: a postcode lottery or a 2-tier system of health care could emerge

Reaction: raise awareness of disabilities and genetic conditions.

5. A future with WGS for newborn screening

Participants felt that a future which included WGS as a technology within newborn screening offered interlinked opportunities for society and the NHS.

Participants were fascinated by the pace of scientific and technological change and set WGS in the context of innovations brought about by human endeavour.

It was felt that the programme could deliver a seismic shift in current healthcare systems – moving towards a more prevention focused NHS.

Equally it was thought people could take more responsibility for their own health with an understanding of their genetic make-up.

There was value to participants in the benefits of WGS being distributed equitably across the UK with an inclusive approach to data collection and equitable access to treatment.

Excitement was expressed about using population level WGS data for the NHS to plan effectively, to manage resources well and to understand trends and patterns shown in the data.

Participants expressed their desire for a pilot research study on using WGS for newborn screening to be thoroughly planned and well executed. They want to avoid an unthought through pilot study that could damage the potential for benefits to be realised and undermine the existing high level of uptake of newborn screening. They expressed the expectation that the pilot study will:

• involve a representative sample of the UK population
• be conducted in a range of health settings across the UK – not just in ‘centres of excellence’
• robustly test the evidence on whether WGS would be an improvement as a replacement or an addition to the current newborn screening tests
• use transparent processes and communicate the results to society, so as to lay the foundations for any future use of the technology

In summary, participants were supportive of the potential use of WGS for newborn screening but only if:

• proper consideration is given to the design and planning of any use of this technology
• the public is involved
• appropriate resources, investment and safeguards are in place