Technological advances have driven the expansion of newborn screening programs over the last two decades. Now, plans are in place to sequence the whole genome of every newborn in the UK to spot those at an increased risk of certain health conditions. On July 8th2021, Genomics England ran an online event to present the information gained from a nationwide dialogue, shedding light on public attitudes and concerns surrounding genomics and newborn screening.
Newborn screening is a long-established practice that is vital for identifying a range of potential genetic-based health problems shortly after a baby is born. These programs are an integral part of many public health systems around the world.
Currently, in the UK, all babies have a blood spot test at around five days old. The ‘heel prick’ test is used to screen for unusual levels of certain chemicals in the blood, which act as early indicators for a small number of serious inherited conditions, including cystic fibrosis and sickle cell disease. If there are concerns that the newborn may be at risk for one of these diseases, further investigations then take place. To confirm the diagnosis, genome sequencing is considered an effective follow-up test.
A plan to sequence the whole genome of every newborn in the UK is on the horizon. In 2016, genomic sequencing for all babies was recommended by Genomics England. The argument for the approach arose due to the falling costs and improved coverage of genetic screening. New tools are now available for analysing whole genome data and it is feasible to filter searches for relevant variants only. Vivienne Perry, Head of Engagement at Genomics England, said: “This is the first time a national healthcare system has considered the use of whole genome sequencing for newborn screening.”
Why would whole genome sequencing of newborns be beneficial?
Diverse populations are not fully represented in studies that aim to uncover genetic conditions. Therefore, one of the main concerns for the genome screening of newborns is that important disease-associated variants may be missing, causing inaccurate results for families from ethnic minority backgrounds. Furthermore, additional unknown genes may play a role in diseases as well as environmental factors that could impact the phenotype of some conditions. Therefore, the predictability of a rare or less-studied disorder from a DNA sequence alone may be limited.
Nevertheless, although whole genome sequencing does not always provide complete certainty, in many cases it can positively impact the lives of those affected by genetic conditions. Screening the entire genome could reduce the number of unrecognised conditions in children and provide a life-changing diagnosis. This would allow for immediate and pre-symptomatic treatment before it is too late for optimal interventions.
Professor Sir Mark Caulfield, former Chief Scientist at Genomics England, summarised: “This newborn screening would be particularly focussed on early-life diagnosis before a child’s 5th birthday, which could be life-changing. We have found that whole genome sequencing could identify up to 600 conditions. We already know that it is definitive for 300 conditions where interventions in early life are beneficial, many of which are simple – minerals, vitamins or dietary change. Only 8% are expensive therapies.”
Ethical conundrums surround the whole genome sequencing program. How is best to deal with conditions that are currently untreatable? How and when should the results be shared with children? Families would certainly require support to deal with the psychological and emotional impact of a diagnosis. Questions about privacy issues are also at the forefront of people’s minds. Dr Felicity Boardman, a Professor in Medical Ethics, explained: “There is the potential for a wide range of results and so there have been concerns raised by the public about which of the results are actually meaningful and useful. Are babies the only beneficiaries, or are there others – the parents, the family and society? And how do we prioritise these interests? Concerns about consent also come up again and again.”
Public dialogue on whole genome sequencing for newborn screening
A dialogue between members of the UK public was commissioned by Genomics England and the UK National Screening Committee, co-funded by Sciencewise. The purpose of the dialogue was to explore whether whole genome sequencing of newborns could have public support, and what people thought about the implications for the NHS and society.
Henrietta Hopkins and Suzannah Kinsella from Genomics England led the overview of the key findings. They explored both the potential use of whole genome sequencing as a technology to replace some parts of the current NHS newborn screening program and the possible novel uses of whole genome sequencing in newborns.
The public dialogue route consisted of numerous online meetings with a diverse cohort of 130 participants, from many geographical areas and different ethnic groups. Overall, the public were supportive of the potential use of whole genome sequencing for newborn screening, but this was dependent on a number of things.
The key findings were as follows:
- Whole genome sequencing for newborns was supported to help identify a wider set of conditions compared to the current nine available on the NHS newborn screening program. However, the additional diseases must impact the infant early-on in childhood and treatments must be available to prevent or slow progression.
- The program could allow people to take more responsibility for their own health through understanding their genetic make-up. 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 support.
- A comprehensive genetic database should be established so that people from ethnic minority backgrounds are not disadvantaged by receiving less accurate diagnoses than the rest of the population from newborn screening. There was a focus on the whole genome sequencing technology being distributed equitably across the UK, with a fair approach to data collection and uniform access to treatment between areas.
- The full complexities must be recognised when designing the consent process. This includes different family structures being considered, for example adoptive parents.
- If the whole genome sequencing data is used for research, the data must be anonymised and used to deliver improved diagnoses, treatment and care.
Essentially, it was felt that the program could deliver a huge shift in the current healthcare system, moving towards a more prevention focussed NHS.
A pilot study is the next step
A pilot study is the next step before whole genome sequencing for newborn screening is rolled out. During the dialogue, there were a number of expectations for the pilot research study amongst the public. They noted that it was important to involve a representative sample of the UK population, to robustly test whether the use of whole genome sequencing would be an improvement on the current newborn screening tests, and to use transparent processes to communicate the results to society.
Professor Bob Steele, Chair of the UK National Screening Committee, concluded: “This pilot study that Genomics England are going to run will provide the evidence that UK National Screening Committee needs to make recommendations in the future. We recognise that scientific data alone is not enough. Values, beliefs and aspirations must also be taken into account. I was greatly impressed by the level of enthusiasm from everyone who participated in this public dialogue – by the end of the process it was clear that there was a high level of understanding of the main issues.”
He continued, “Integrated studies like this will help to shape the future of research. The next steps for the UK National Screening Committee will be to look at the information that emerges from the pilot study and to start formulating recommendations for the use of whole genome sequencing for newborn screening. That’s where the information from the public dialogue will become extremely useful.”
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