The news that Scotland has added spinal muscular atrophy to its newborn screening program has once again put genetic testing in the spotlight. It marks an important step forward for the earlier diagnosis of rare diseases, but also raises a broader question: how far could the benefits of newborn screening extend if healthcare systems evolved targeted tests towards a more comprehensive genomic approach?
Much of today’s healthcare debates still center on the cost-effectiveness of identifying and treating disease once it has developed. Advances in sequencing technology are shifting that equation, creating an opportunity to identify risk earlier and support healthier lives. Long-read sequencing, in particular, captures a more complete and accurate view of the genome, including complex regions previously missed. The technology was instrumental for completing the first full human genome sequence in 2022, and is now becoming scalable and cost-effective enough for wider use.
Public appetite for genomics is also growing. Almost 90 percent of people in England report they would undergo genetic testing to receive more effective treatments and reduce side effects. With both technology and public buy-in, the opportunity exists to build a system that uses genomic insight from birth to guide care across a lifetime.
How does current newborn screening work?
In the UK, newborn screening is carried out using the “heel prick” test in the first few days of life. A few drops of blood are used to screen for a limited number of serious but treatable conditions. While effective, this approach is restricted to a defined panel of conditions assessed through biochemical or targeted genetic tests.
Other countries screen for a broader range of conditions, including Australia (around 25), Italy (around 40), and the United States (around 37). Some are also exploring more comprehensive approaches – for example, Thailand is piloting whole genome sequencing (WGS) in newborns.
The UK is beginning to move in this direction. Its National Health Service (NHS) has outlined plans to offer WGS to all newborns, supported by initiatives such as the Generation Study and its Babies in Focus arm, which are assessing the infrastructure needed for large-scale genomic screening. In a publicly funded system, the long-term goal will be to translate this early investment into improved outcomes and greater efficiency in care.
Benefits of WGS
Providing whole genome sequencing at birth could reshape care pathways and reduce long-term costs. In rare diseases, earlier diagnosis may shorten the “diagnostic odyssey,” which often lasts years and can involve multiple specialist visits, misdiagnoses, and prolonged uncertainty.
Earlier detection also improves outcomes in more common conditions. For example, survival rates for many cancers are significantly higher when diagnosed at an early stage – more than 95 percent of people with stage 1 breast cancer survive at least five years, compared with around 30 percent at stage 4.
With these benefits in mind, how can we build a preventative healthcare system? Here are five steps we can take to move the field forward:
1. Generate reliable genomic health records
Genomic data should not be treated as a one-off test, but as a lifelong resource. High-quality sequencing allows clinicians to revisit the same dataset as scientific knowledge evolves, avoiding repeated testing. This approach can reduce costs, streamline care, and improve the patient experience by replacing fragmented testing with a single, enduring record.
2. Build a connected data infrastructure
The value of genomic data depends on how well it is integrated into the healthcare system. Currently, it often sits separately from routine medical records. A preventative model requires secure digital infrastructure that links genomic data with electronic health records, enabling clinicians to interpret it in clinical context. Without this integration, even comprehensive datasets risk being underused.
3. Adopt risk-informed screening and care pathways
With genomic data in place, screening can shift from a uniform approach to one based on individual risk. This enables earlier or more frequent screening for those at higher risk. For example, in Estonia, genetic risk scores are being used to lower the age threshold for breast cancer screening.
Genomic data can also improve prescribing. Around 55 percent of adults receive medications that may be less effective due to genetic variation. Evidence suggests that tailoring drugs and dosages to an individual’s genome could reduce adverse drug reactions, which currently account for a significant proportion of hospital admissions. This depends on capturing key pharmacogenomic variants, supporting the use of more comprehensive sequencing.
4. Empower individuals to access their own records
Prevention relies on patient engagement. In Estonia, as part of the biobank initiative, individuals can access genomic insights through digital platforms, allowing them to explore how lifestyle factors – such as BMI or smoking – may influence disease risk. Making this information accessible and understandable supports informed decision-making and encourages a more participatory approach to healthcare.
5. Move from binary screening to disease stratification
Traditional screening provides a simple yes/no result. Advances in genomics now enable a more nuanced approach that considers disease severity. For example, Scotland’s newborn screening program for spinal muscular atrophy assesses both SMN1 deletion and SMN2 copy number to estimate likely disease severity. This allows for earlier and more tailored clinical decisions. Moving toward stratified screening will be key to making prevention more precise and clinically relevant.
The shift starts now
Realizing the vision of preventative healthcare will require sustained investment, robust infrastructure, and meaningful patient engagement to build trust and address ethical considerations. Close collaboration between technology providers, healthcare systems, and clinicians will be essential to translate genomic insights into routine care.
This shift is already underway. As sequencing technologies mature and the evidence base grows, genomics is likely to play an increasingly central role in newborn screening. With its experience in delivering care at scale, the NHS is well positioned to support this transition – provided the necessary investment and implementation frameworks are in place.
Sukhvinder Nicklen is MEA Market Development Lead for Human Genomics at PacBio.
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