Director of Policy, Genetic Alliance UK
The UK lags far behind many European countries in how many conditions we test babies for at birth. At present, Italy screens for 43 conditions, the Netherlands 34, Australia 28, while the UK screens for 9, Spain 7, Ireland 6, and France 5.
Early intervention is crucial. Newborn screening allows affected children to receive appropriate care and treatment as early as possible, and often before symptoms appear. Such early interventions can save lives and slow or prevent disease progression and families are spared a rare disease diagnostic odyssey, which can last years.
The early diagnosis of an affected child has the added benefit of supporting family planning, providing couples with the opportunity to exercise reproductive choices if they wish to.
In the absence of a treatment, screening can build a platform for research. Comprehensive registries can be built with the high identification and diagnosis rates that screening delivers. This allows our understanding of rare conditions to grow, facilitating research that can lead to future treatments.
The potential benefits aren’t being prioritised enough
So why are so few conditions screened for at birth in the UK? Recommendations on newborn screening programmes are made by the UK National Screening Committee, who weigh the potential benefits against the potential harms. One reason the UK lags behind is that, in comparison to other nations, the UK is either valuing the benefits less, or assessing the harms to be greater, or both.
Newborn screening allows affected children to receive appropriate care and treatment as early as possible, and often before symptoms appear.
We’re becoming used to COVID-19 affecting everything – this topic is no different. The Secretary of State for Health announced in August that Public Health England is to be broken up to form the National Institute for Health Protection, with other prevention related activities of the organisation to be organised in a different way. It is too early to know how this might affect the UK National Screening Committee, and whether this may accelerate or delay change and progress.
Early diagnosis of rare diseases must remain priority
Regardless of which Government agency runs screening, if the UK’s approach is to change, the weighting of the risks and benefits of newborn screening must shift. The rare disease community’s view is clear. The value of early diagnosis for a growing number of rare diseases is high and disproportionate weight is given to potential, rather than evidenced, risks.
The public holds the answer. To find the appropriate path for the future of newborn screening in the UK, we need to know the view of an informed public on the balance between the benefits and harms of newborn screening. How much of an impact does a false alarm have, compared to the value of knowing early about a potentially life-limiting condition?