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At birth

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• Introduction
• How broad should newborn screening be?
• Potential uses of newborn screening data

Introduction

At birth, newborn screening (NBS) – sometimes called newborn blood spot screening or neonatal testing – helps detect serious but treatable diseases in babies. By taking a few drops of blood soon after delivery, serious congenital conditions are detected that may not show symptoms immediately, but can cause serious health problems if untreated. Conditions tested can include cystic fibrosis (or mucoviscidosis), spinal muscular atrophy, blood disorders and hearing loss. See an overview of conditions currently included in newborn screening programmes across Europe. Early detection and diagnosis (before symptoms appear), however, allow for timely treatment, monitoring and preventive care. This improves the quality of life and ensures every child has equal access to lifesaving care.

Nevertheless, NBS also raises important ethical and societal points of discussion.

NBS is now offered in all European countries and the UK, but the specific approach varies from country to country. Across Europe, there is an ongoing debate about which diseases should be included in NBS programmes. Different countries currently make varying choices. There is no standardised European list or common criteria for deciding which diseases should be included (see an analysis of the lack of harmonised criteria across Europe). This raises a key question: if feasible, should all babies be routinely screened for the widest possible range of diseases to give every child the best chance of a healthy start in life?

Additionally, NBS raises questions about how and by whom the genomic information obtained can be used. Parents consent to NBS, but as children grow, they may want control over how their data is used. Moreover, information collected for health might also be applied in research, policymaking or even law enforcement, raising questions of transparency, consent and trust.

How broad should newborn screening be?

The number of diseases screened for varies considerably across Europe. Countries like Italy, Portugal and Austria test for more than 30 conditions, while others – Cyprus, for example – test for as few as two.

Patient associations argue that this lack of standardisation creates inequalities (see EURORDIS position on newborn screening). From the very start of life, children receive different levels of preventive, diagnostic and curative care across countries. To address this, patient groups are calling for common European criteria for which conditions should be included in NBS, as a step towards more equitable healthcare. If you would like to know more about the opinions and experiences of rare disease patients on NBS, read the EURORDIS Voices on Newborn Screening report. However, countries have very different organisational, political and financial systems, and, as a result, different capacities for prevention, diagnosis and treatment. A strict one-size-fits-all approach may therefore be out of reach for Europe. Instead, patient associations have suggested 11 broad principles to support a more harmonised approach to newborn screening across Europe.

Real story – Spain: Unequal access to newborn screening
For years, NBS in Spain varied widely between regions. Some autonomous communities tested only a handful of diseases, while others screened for more than 30.

This meant a baby’s access to early diagnosis and treatment depended on where they were born. Families in regions with fewer tests described the situation as a ‘postcode lottery’ for their children’s health
(see discussion of regional inequalities).

For a detailed overview of newborn screening practices in Spain, see this analysis of national and regional programmes.

Health professionals have argued that broader screening protects children and reduces long-term costs
(see clinical perspectives on expanding screening).

Even if common standards were agreed across Europe, the pressing question remains: how broad should NBS be, and which diseases should it cover?

Currently, NBS only includes conditions where early detection clearly improves health through prevention, monitoring or timely treatment. With rapid advances in genomics, however, there is growing debate about expanding the scope, or even sequencing the entire genome of every newborn
(see UK policy discussion on whole-genome sequencing for newborn screening).

One concern is the psychological impact on families. Learning about a potential health risk in an otherwise healthy baby can cause distress and uncertainty
(see EURORDIS report on lived experiences and impacts of newborn screening).

Autonomy is another challenge. Parents may wish to know everything about their child’s genetic makeup, but as children grow, they also have a right to make their own health decisions.

Finally, whole-genome sequencing could shift how society views health. If risks are systematically identified at birth, almost everyone may be seen as a ‘pre-patient’ — healthy for now, but predisposed to future disease.

Potential uses of newborn screening data

Health data collected at birth can be valuable beyond its original purpose. It supports public health statistics, research and policymaking. With initiatives such as the European Health Data Space, the reuse of such data is expected to grow. This raises sensitive questions. Should newborn screening data ever be used for non-medical purposes, such as criminal or forensic investigations? How should transparency, consent and trust be ensured?

Finally, when considering the reuse of NBS data, autonomy is key. Parents give consent at birth, but as children grow, they may wish to decide for themselves how their genetic data is used. These debates highlight a central tension in balancing individual rights with the broader societal value of research. Decisions made at the very start of life can carry consequences for decades to come — for both individuals and society.