How England is weighing the cost of genomic newborn screening

Newborn screening has long been a cornerstone of public health. In England, a simple heel-prick blood test in the first days of life is used to detect serious genetic conditions early, enabling timely treatment and better outcomes.

However, what is screened for varies widely across countries. In the United States, federal recommendations cover around 36 conditions, while Australia screens for more than 20. In England, the newborn bloodspot programme currently includes 10 conditions, such as phenylketonuria, cystic fibrosis, congenital hypothyroidism and sickle cell disease.

Decisions about what conditions to include are guided by the UK National Screening Committee, Each condition is assessed individually against criteria including test accuracy, clinical benefit, cost-effectiveness, potential harms, and ethical considerations.

Despite these structured processes, rare diseases remain a major challenge. Around one in seventeen people will be affected by a rare disease in their lifetime, most of which begin in childhood. Diagnosis is often slow and fragmented, with patients waiting an average of 5.6 years for answers.

From a handful of conditions to hundreds

Genomic sequencing now makes it possible to screen for hundreds of rare conditions from a single test. In principle, this could enable earlier diagnosis and reduce long and uncertain diagnostic journeys for families.

This possibility is being explored through more than 60 studies worldwide with the International Consortium on Newborn Sequencing (ICoNS), providing a collaborative forum to support data sharing, learning, and coordination across these efforts. Together, these studies are helping build an evidence base to inform future policy and implementation decisions.

In England, this work aligns with the NHS Fit for the Future: 10 Year Health Plan for England, which sets out ambitions to embed genomic sequencing more deeply into routine care, including potential use in newborn screening.

Putting genomic newborn Screening to the Test

Any move towards a genomic newborn screening programme in England must be grounded in robust evidence of clinical benefit, safety, and system-wide impact.

The Generation Study, led by Genomics England in partnership with NHS England, is recruiting 100,000 newborns to test whether genomic sequencing can be integrated into routine screening. Importantly, this is not just a theoretical exercise – it is testing how such a programme works in real-world NHS settings.

Alongside this, a Process and Impact Evaluation is examining how the programme functions end-to-end. This includes how clinicians interpret uncertain findings, how families understand and respond to results, and how health services manage follow-up care.

The evaluation also looks at broader outcomes, including health-related quality of life, parental understanding of results, decision regret, and whether receiving a diagnosis change how families perceive their child’s future.

The cost of genomic newborn screening

One of the biggest challenges is cost – not just that of the test itself, but of delivering the entire genomic newborn screening service. Genomic screening adds the cost of sequencing and interpreting complex data, while increasing the demand for follow up investigations and specialist care.

To address this evidence gap, health economists at Queen Mary University of London (Dr James Buchanan and Dr Martin Vu), working as part of the Process and Impact Evaluation, led a detailed costing study of genomic newborn screening as implemented in the Generation Study. Using detailed data from the early stages of the Generation Study, they estimated that delivering genomic newborn screening in practice costs around £1,208 per newborn. When research-specific elements are removed to more closely reflect a routine NHS service, this cost falls to roughly £960 per newborn. In contrast, the current newborn bloodspot screening programme costs around £41 per newborn.

This study – recently published in Genetics in Medicine – also highlights that returning results and providing early follow-up care for the small minority of babies with suspected conditions can require substantial staff time and specialist input. However, most babies will not have clinically significant findings, meaning the overall costs of genomic newborn screening are spread across the entire population rather than concentrated in a small group.

Further work is underway to understand downstream healthcare use, including referrals, treatment, and long-term monitoring, as well as the infrastructure required for national scale-up and the wider impact on families and health services.

Speaking on the impact of this analysis, Alice Tuff-Lacey, Progamme Lead for the Newborn Genomes Programme at Genomics England, said: "The Generation Study was established to generate the evidence needed to understand whether genomic newborn screening could benefit babies, families and the healthcare system. This micro-costing analysis is an important step in that journey, providing some of the first detailed evidence on the resources and costs involved in delivering genomic newborn screening in a real-world setting.

As the study continues, we will build on this work by evaluating longer-term outcomes for children and families. We will explore what implementation could look like at a national level, understanding how costs may change as the programme matures and as sequencing prices evolve. Together, this evidence will help ensure that any future decisions are grounded in robust data and the experiences of those involved."

Turning evidence into policy

Evaluating genomic newborn screening is more challenging than traditional screening programmes. The question is no longer simply whether individual conditions meet screening criteria, but whether a whole-genome approach can deliver sufficient overall benefit to justify its cost, complexity, and wider system effects, while still meeting established ethical and evidentiary standards.

The Generation Study continues to recruit families to generate the data needed for economic modelling and cost-effectiveness analysis. This evidence will be central to decisions about whether, and how, genomic screening should be adopted in the NHS.

Getting this right matters because newborn screening sits at the very start of a child’s health journey. Decisions made now will shape not only what can be detected at birth, but how effectively genomic information can be translated into meaningful, lasting benefit for children and their families.

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