NHS doctors need more support to deliver genomic medicine to patients, says Cambridge think-tank

By Rebecca Bazeley

15 March 2018


The vast majority of hospital doctors do not consider themselves qualified or competent to interpret the results of genomic tests.

This is the conclusion of a new report from the PHG Foundation, Genomics in mainstream clinical pathways.

The UK Government has committed to embedding genomic medicine into mainstream clinical care (i.e. care outside the specialty of clinical genetics) in the NHS. However the report identifies two critical barriers to its widespread, effective and safe application: choosing which patients will benefit from genomic testing, and making the right referral for testing; and understanding the result well enough to make the best clinical decision.

The report is based on a workshop with mainstream clinicians working in specialisms including cardiology, renal medicine, paediatrics and ophthalmology, as well as clinical geneticists.


Dr Hilary Burton, lead author of Genomics in mainstream clinical pathways said:

Our aim with this report is to highlight the changes essential to widening access to genomic medicine. Genomic medicine is a very new developmental area for clinicians in mainstream practice. Those making referrals for genomic testing will need training in ordering the right tests and understanding the report of results, particularly the way in which it may support clinical decision-making. Even after training, doctors are likely to need ongoing support from the genetics service.

There are conditions that are well understood in many aspects – clinical features, likely development and management – but where the possibility of an underlying genomic cause may simply not be considered by the clinician treating the patient. As more new treatments that target specific genetic forms of disease become available, getting the right genetic test to the right patient must become a part of routine clinical care.


A patient with end stage kidney disease of unknown aetiology (cause) may have the genetic disease Alport syndrome, for which they should be tested. A family history of renal disease coupled with hearing loss or ocular (eye) abnormalities indicates the need for referral for genomic testing, but currently, a nephrologist (kidney specialist) would not necessarily have the expertise or equipment to make the required detailed eye and ear examinations that indicate a need for genomic testing.

Key findings

  • Choosing which patients will benefit from genomic testing and making the right referral is a significant challenge in mainstream medicine
  • There are serious questions about the adequacy of processes in mainstream medicine for capturing phenotype (clinical information), yet integrating this information is key to the interpretation of genomic variants
  • It is unlikely that mainstream clinicians will have the knowledge to select the appropriate test in any level of detail
  • Genomic sequencing increases the complexity of interpretation needed for genetic test results, and requires higher skill levels for doctors


  • Increased levels of support from clinical genetics specialists must be made available to referring clinicians
  • Standardised guidelines for referral for testing, collecting relevant clinical information and reporting results from genomics tests are needed


The PHG Foundation led a workshop in March 2017 to encourage dialogue between clinicians, clinical geneticists and the clinical genomic science community and clarify the changes essential to widening access to the benefits of genomic medicine. The PHG Foundation is a health policy think-tank based in Cambridge. Its special focus is on how genomics and other emerging health technologies can provide more effective, personalised healthcare and deliver improvements in health for patients and citizens. www.phgfoundation.org

Interviews and further information

To arrange an interview with Dr Hilary Burton and for general enquiries, please contact the PHG Foundation press office on +44 (0)7505092081 or Rebecca Bazeley

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