Gulcin Gumus
Research and Policy Senior Manager, EURORDIS – Rare Diseases Europe
With around 72% of rare diseases being of genetic origin and 70% exclusively affecting children, newborn screening offers invaluable benefits. It can revolutionise healthcare outcomes for newborns and families continent-wide.
Newborn screening comprises physical exams, hearing tests and drawing a few drops of blood to detect conditions at birth. It allows for the early identification and treatment of severe and rare diseases, promoting better health outcomes.
Despite this, health systems across Europe vary in their embrace of newborn screening, with many diagnostic opportunities missed. Countries screen for differing numbers of conditions, often limited to treatable conditions with established medical treatments.
UK and Europe in newborn screening
The UK, although a global leader in genomics research, screens for only nine rare conditions.1 This figure may be higher than for Romania and Cyprus, which screen for as few as two conditions,2 but the UK is far behind most countries, such as Italy, which screens for over 40.3
Diagnosing conditions as early as possible optimises one’s lifelong healthcare, irrespective of whether that condition is treatable. National health systems should extend their focus beyond treatable conditions and start appreciating the need for swift diagnoses of ‘actionable’ ones.
These conditions may lack a cure but can be managed effectively through available interventions. Earlier detection thanks to newborn screening can prevent emergencies, aid family planning and facilitate access to support networks.
National health systems should extend their focus beyond treatable conditions and start appreciating the need for swift diagnoses of ‘actionable’ ones.
Health technologies that can speed up diagnosis
It’s time for health policy to catch up with health technology. Next-generation sequencing, for example, is a technology allowing scientists to analyse DNA more quickly and cost-effectively than traditional sequencing methods. The use of this technology in newborn screening is currently being explored and shows potential to massively expand the number of diseases for which we can screen.
To support these advances and shorten protracted diagnostic journeys for rare disease patients, EURORDIS is backing the Screen4Care project, which is aiming to speed up diagnoses through digital solutions like predictive algorithms.
How policymakers can enable newborn screening access
However, enabling widespread access to the transformative potential of newborn screening — within and beyond the EU — requires structured collaboration among nations. Last October, over 20 EU countries pledged support for initiatives promoting equitable access to newborn screening programmes, following a call to action by the Czech Republic during their EU Council Presidency. We now need policymakers across Europe to turn their commitments into action.
[1] https://www.nhs.uk/conditions/baby/newborn-screening/overview/
[2] https://www.technologynetworks.com/diagnostics/blog/a-landscape-assessment-of-newborn-screening-in-europe-359964
[3] https://www.technologynetworks.com/diagnostics/news/what-happened-when-a-whole-state-was-offered-genetic-screening-for-free-376865
