Review of genomic technologies for NHS Scotland

Case study


In 2016, PHG Foundation produced a literature review in genetics and molecular pathology for NHS National Services Scotland, the body that provides advice and services to NHS Scotland. This was to inform a review by the National Services Division (NSD) on the provision of clinical genetics laboratory and molecular pathology services in Scotland.

Since then, there have been significant developments in the clinical genomics infrastructure in the UK home nations and in genomics technologies. NHS Scotland was keen to continue to provide advanced and cost-effective access to such technologies for patients.

In 2020, the Scottish National Specialist and Screening Services Directorate commissioned PHG Foundation to produce an update on genomics technologies and their applications since the 2016 review, to inform the long-term strategy for clinical genomics in Scotland.

What we did

We examined peer-reviewed literature and other public sources of information, and consulted NHS clinical scientists engaged in the delivery of various types of clinical genome analysis, to produce a comprehensive-researched update to the 2016 clinical genome analysis evidence review.

Our report:

  • Described current and emerging DNA-based testing technologies
  • Assessed their likely contribution to diagnostic testing over the next three years
  • Reviewed developments in the UK clinical genomics policy landscape since 2016
  • Explored how the clinical genomics landscape might change in the next few years


The 2020 Clinical genome analysis evidence review from PHG Foundation fed directly into strategic planning for the design and provision of clinical genetic services in Scotland, helping to inform the future shape of genomic medicine at a national level, and the treatment of patients in the Scottish NHS. 

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