Newborn screening for diseases using heel pricks and blood spots has been carried out in the UK since the mid-1960s, and the National Screening Committee (NSC) has been responsible for overseeing this since the mid-1990s. Currently, only nine conditions are screened for in the UK, which is fewer than in many other high-income countries. Although many patient groups advocate for new conditions to be added to the list, this has not happened. To address this, the Progress Educational Trust (PET), which also publishes BioNews, held an online event entitled 'Newborn Screening: What Should Be Screened for and How?'.
Sarah Norcross, director of PET, opened the discussion with a brief, unbiased overview of the current situation. Although Norcross mentioned whole-genome sequencing (WGS) as a potential screening tool, which will be discussed in detail in an upcoming series of PET events, she urged the speakers to address the more urgent issue of what conditions should be screened for using already established methods.
Professor Anne Mackie, director of programmes for the NSC, was the first speaker of the evening. I was eager to hear her views on the current situation and future outlook. However, although Professor Mackie covered many topics, including the committee's history, successes of the blood spot programme and the challenges of maintaining quality assurance, I didn't feel that she really got to the heart of the issue, nor did I get the impression that she thought urgent change was needed.
Fortunately, her responses to questions helped to add some flesh to the bones. First, she confirmed that the NSC would consider evidence to screen for other diseases based on data from other countries. She also talked about the NSC's collaboration with Genomics England, and confirmed that any future uses of WGS would not be a fishing exercise but an additional tool to look for specific treatable conditions. It was somewhat reassuring to hear that the NSC is considering a more focused approach with WGS, and is keen to avoid burdening parents with data that might be inconclusive and difficult to interpret.
The next talk by Professor Laurent Servais, professor of paediatric neuromuscular disease at the University of Oxford, couldn't have been more of a contrast. It was the most provocative talk of the evening, and I'm sure the entire audience was moved by it. He showed video after video of children affected by spinal muscular atrophy (SMA), a severe genetic condition that is diagnosable using a simple PCR test. His point was to address the genuine human impact of newborn screening.
We watched children who received gene therapy before the onset of symptoms living normal lives – running around, climbing stairs – and children who received it after a later diagnosis, their lives saved but left unable to walk and requiring ventilation. It was brutal to watch but highly effective. Professor Servais also discussed his involvement in ongoing clinical trials, and a petition to urge the UK government to fund newborn screening of SMA. It was an inspirational talk, and I had no doubt by the end of it that he really does 'think and dream about this issue every day.'
Dr Will Evans, GP and chair of trustees at Niemann-Pick UK, followed up with a unique perspective as a doctor and father to 13-year-old Sam, who has Niemann-Pick disease, a rare and devastating lysosomal storage disorder. He didn't use slides during his talk, which I always find refreshing, and he spoke clearly and candidly about his firsthand experience. He described the suffering caused to the individual, and talked about the broader impact on the family.
Technically, newborn screening for Niemann-Pick disease is possible, but is not currently offered in the UK. Dr Evans raised an important point that not only does early diagnosis improve the outcomes for patients, but it also gives parents the chance to make life choices and reproductive decisions that are right for their families. Similarly to Professor Servais, he also highlighted all the barriers that make it difficult to get a new disease added to the newborn screening list in the UK. He described it as a catch-22: you need evidence to persuade the committee, but you can't get the necessary evidence without newborn screening.
Nick Meade, joint interim chief executive and director of policy, at Genetic Alliance UK, gave the final presentation of the evening, which further added weight to the arguments raised by Professor Servais and Dr Evans. He used data to show that the UK lags behind most other high-income countries regarding the number of diseases screened for in newborns. Although Meade said there could be disadvantages to screening for a large number of diseases, he also said that the UK is not screening enough, and some obvious candidates are being missed. He urged the NSC to reconsider how they balance risk against benefit, and to put more resources into gathering public opinion on the matter.
A member of the audience asked about the definition of a treatable disease. Meade said he preferred to use the term 'actionable', since management of a disease without a treatment or cure can still significantly improve a patient's life. Meade also spoke about his work with the Archangel Newborn Screening Review campaign, an important initiative that brings together stakeholders who represent more than 500 rare diseases and thousands of patients.
It was clear throughout the Q&A that Professor Servais, Dr Evans and Meade agreed on a number of key points, particularly regarding how the NSC ranks harm, the disconnection between the UK and other countries, and problems arising from bureaucracy and lack of public review. Meade questioned whether the arguments of the NSC match society's priorities, and Professor Servais called for greater recognition of the harm that can be caused by not acting.
As Norcross said in her closing comments, some of the arguments raised were so compelling that they make it difficult to remain impartial. Through events such as this, and the ongoing work of those who spoke on the panel, I hope that more will be done in the UK to give newborn babies a better chance of life and to give their families greater choice.
If you didn't attend the event, I highly recommend that you watch the recording when it becomes available on BioNews and on PET's YouTube channel. The event exceeded my expectation, and I left feeling more moved and inspired than I expected. I challenge anyone, whichever field you work in, not to feel the same after watching it.
PET is grateful to Novartis for supporting this event. Our next online events will be:
'Whole Genome Sequencing at Birth: What Should Be Looked For? What Should Be Fed Back?' on Wednesday 17 November 2021, register here.
'Reproducing Regulation: Who Regulates Fertility and How?', PET's Annual Conference on Wednesday 1 December 2021, register here.
'Whole Genome Sequencing at Birth: Consenting Adults, Sequencing Babies' on Wednesday 15 December 2021, register here.