Clinical genomics
S1R1C1
 

The use of genomic information for clinical decision making is expanding. Once available only in rare disease services,  clinical genomics is becoming a reality in cancer services, for pre-natal screening and for personalising drug prescribing. Our work considers and makes recommendations on the appropriate implementation of genomics across a range of services including pharmacogenomics.
S2R1C1
 

How is diagnosis changing in response to technological innovation?  The changing nature of diagnosis: implications for policy, practice and patients is the outcome from our multidisciplinery, cross-sector roundtable held in 2025.  The policy report sets out issues at the roundtable and identifies priorities for future research, policy and practice.

The changing nature of diagnosis - Implications for policy practice and patients  (PDF 430KB)
S3R1C1
 

A series of  briefings to help policymakers get to grips with polygenic scores, and providing solutions to some of the key challenges in this field.

Unpacking polygenic scores

October 2023
S4R1C1

While there remain barriers to implementation of long-read sequencing into clinical services this technology has advantages.

Developments in long-read sequencing

November 2022
S4R1C2

Functional genomics investigates the activity of genes and gene
products, how they are regulated and the influence of their variation on our biology.

Functional genomics

November 2020
S4R1C3
 

Published in 2025, The Optimising EXome PREnatal Sequencing Services (EXPRESS) policy report outlines actions to strengthen clinical implementation of, and further research on, prenatal exome sequencing services in the NHS. It explores the opportunities and challenges in establishing a new genetic testing service and captures key findings, including the views of parents and healthcare professionals.

Optimising EXomePREnatal SequencingServices (EXPRESS)  (PDF 1MB)
S5R1C1