Viewpoint in EJHG
Our recent viewpoint in the European Journal of Human Genetics explores what it will take to move population genomics from scientific research into routine healthcare services.
What the paper is about
Population genomic screening is advancing rapidly, supported by large national and international programmes. The benefits of genomics depend on whether health systems can translate genomic data into clinical services that work in real clinical settings.
In this paper, we highlight why implementation is now one of the biggest challenges facing population genomics.
Key highlights
The paper highlights three priority areas that need to be addressed if genomic screening is to become part of routine care.
Genomic results need to be useful to the clinicians who will act on them. For genomics to become part of routine care, tools need to work for a much wider clinical workforce, rather than relying on specialist genomic expertise. Results need to move beyond static reports and standalone portals, and fit into everyday clinical workflows.
Developing digital infrastructure
Genomic data needs to move safely and meaningfully across laboratories, electronic health records and clinical systems. Interoperable infrastructure is essential if genomic results are going to support decisions at the point of care.
Building public engagement and trust
Population genomics depends on public confidence. Engagement should involve people from all communities in shaping how genomic services are designed and delivered.
Why it matters
The paper positions pharmacogenomics as a practical near-term example of how genomics can be implemented at scale. Because pharmacogenomic results are often directly actionable, they provide a useful testbed for building the delivery models, digital infrastructure and public trust needed for wider genomic screening.
At its core, this paper argues that the role of genomics in transforming healthcare depends on how well we design, deliver and embed genomic services into everyday care.