This event was the last in a five-part series produced by the Progress Educational Trust (PET), the charity which publishes BioNews. Sarah Norcross, director of PET, kicked off the proceedings by summarising the main topics for discussion, including the impact of whole genome sequencing (WGS) at birth on the healthcare workforce in the UK, how to manage consent and data, and the risks and benefits.
Sarah-Jane Marsh, chair of the Newborn Genomes Programme's NHS Steering Group, started the discussion by reflecting on her time on the 'front line' as chief executive of Birmingham Women's and Children's NHS Foundation Trust. She spoke passionately about her first-hand experience with young patients suffering from rare genetic conditions, and shared her enthusiasm for the Newborn Genomes Programme – a new initiative from Genomics England that aims to explore the benefits, challenges, and practicalities of sequencing and analysing the genomes of newborns.
The next speaker was Dr Michelle Bishop, associate director of Learning and Training at Wellcome Connecting Science, and former Education Development Lead at Health Education England's Genomics Education Programme. Dr Bishop, also a former genetic counsellor, spoke clearly and concisely about her passion for newborn screening and the importance of upskilling the NHS workforce. It was interesting to hear about the different education and training opportunities and how some of these were developed based on lessons learnt from the 100,000 Genomes Project. Dr Bishop also emphasised that more extensive planning and modelling are needed to resolve complex issues, such as how to train at scale and reach the future workforce.
The discussion continued with a strong focus on the practical aspects of implementing the Newborn Genomes Programme in the NHS. As medical director of the North East and Yorkshire Genomic Laboratory Hub, Professor Eamonn Sheridan was able to give his expert opinion on the impact of the programme on laboratory staff.
He focused on the lack of infrastructure, challenges of changing methodologies, and the difficulty of working in a system that is still mainly paper-based. He also spoke briefly about consent and strongly advocated for upholding the principles of the existing newborn screening programme, such as leaving no baby behind and screening in a timely manner. Despite saying the Newborn Genomes Programme is a fantastic opportunity to improve health outcomes and inequalities, he also warned that there are many pitfalls.
The penultimate speaker, Angus Clarke, professor of clinical genetics at Cardiff University, gave a candid and well-received talk, saying that this event helped him take a long, hard look at the implications of WGS for people outside of genetic services. He asked whether we are really ready for the use of WGS in newborn screening, and whether this is this a good time to introduce it.
In addressing these questions, he shared some powerful statistics highlighting the rise in childhood poverty in the UK and the lack of resources in the NHS. For example, approximately ten percent of midwife positions are currently unfilled, and the number of GPs in 2021 fell about 18 percent short of the government target. He also described the fierce competition between families for limited support and services. He concluded by asking the audience to consider whether WGS of newborns should be a high priority for children in the UK, and what consequences could result from reallocating resources.
The final speaker, Professor Pali Hungin, head of the Changing Face of Medicine project, and emeritus professor of general practice at Newcastle University, began his talk by agreeing with Professor Clarke. He then explained that the Changing Face of Medicine project tries to predict the role of doctors in the future, describing it as the 'Star Trek' of the NHS. He raised some thoughtful points about the expectations of patients, the danger of overselling the benefits of modern medicine, and the unmanageable GP workload – with more than one million consultations per day in the UK. He ended his talk by saying that the Newborn Genomes Programme is a wonderful opportunity, but that science is only part of the picture, and should not be divorced from the human factor.
Amanda Pichini, consultant genetic counsellor at Genomics England and member of the Newborn Genomes Programme's NHS Steering Group, joined the speaker panel for the Q&A session.
The first question from the audience was related to whether WGS should be used to screen newborns, rather than how. Professor Clarke said he had major reservations, asking: 'In an ideal world, would we want to? And given how things are now, is it sensible or appropriate?'
Professor Sheridan also questioned whether WGS is the best way to screen newborns, and argued that the number of genetic conditions screened for in the UK could be increased four- or five-fold overnight using existing technologies – a valid point that had been discussed in greater depth at a previous event in the series (see BioNews 1122). In response to this, Pichini stressed that the Newborn Genomes Programme would not stop the progress of other technologies, and it would likely sit alongside existing screening programmes.
Professor Hungin added that we shouldn't hold science back, arguing that if there's a technology that can improve patient care, then we owe it to the world to see if we can implement it. He also argued that lack of resources will always be an issue in healthcare, and shouldn't be used as an excuse to restrict progress.
Other topics raised during the Q&A included the difficulties of using genotype to predict phenotype, and finding pathogenic variants in currently healthy babies. There was also a lively discussion about consent, and the ethics and feasibility of storing genomic data throughout a person's lifetime. Dr Bishop ended the session by mentioning that while it is important to consider the families which receive a diagnosis, families that do not receive a diagnosis should not be ignored, as they too may be seeking answers and reassurance.
Overall, the event provided a thorough overview of the potential benefits and challenges of implementing whole genome sequencing at birth, within the NHS. Genomics England is actively seeking public opinion through events such as this, and all the questions and comments raised are being passed on to them for consideration. I'm certain that it will provide food for thought.
PET is grateful to Genomics England for supporting this event.