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Doctors don't feel qualified to intepret genomic tests, concludes Cambridge's PHG Foundation

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Dr Hilary Burton, of the PHG Foundation
Dr Hilary Burton, of the PHG Foundation

They are of growing importance in providing precision medicine, but study shows medics need more support

DNA sequencing is now a much more affordable technology
DNA sequencing is now a much more affordable technology

Genomic testing is a key weapon in the armoury of precision medicine, helping doctors to find the right treatment for an individual patient by analysing DNA information.

The UK government has committed to taking genomic medicine beyond specialists and embedding it into mainstream clinical care.

But a new report from a Cambridge health policy think tank, the PHG Foundation – which became part of the University of Cambridge on April 1 - has concluded that the vast majority of hospital doctors do not consider themselves qualified or competent to interpret the results of genomic tests.

The report outlines the work needed to ensure that doctors are armed with the knowledge to utilise the tests available.

Dr Hilary Burton, lead author of the report ‘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.”

The report identifies two critical barriers that are preventing the widespread, effective and safe application of genomic medicine.

Genestack is helping speed up the biodata sector and make it more accessible for biologists
Genestack is helping speed up the biodata sector and make it more accessible for biologists

The first is choosing which patients will benefit and making the right referral for testing.

The report notes that in some cases “the possibility of an underlying genomic cause may simply not be considered by the clinician”.

The second barrier is understanding the result well enough to make the best clinical decision.

“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,” said Dr Burton.

“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.”

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

The study raises serious questions about the adequacy of processes in mainstream medicine for capturing the clinical information that is vital to interpreting genomic variants.

The authors say it is unlikely that mainstream clinicians will have the knowledge to select the appropriate test in any level of detail and, with genomic sequencing increasing the complexity of interpretation needed for genetic test results, doctors require higher skill levels.

It states: “In the UK particularly, there is confusion as to which tests should be ordered for which disease.”

The key recommendations from the PHG Foundation are:

■ increased levels of support from clinical genetics specialists must be made available to referring clinicians; and

■ standardised guidelines for referral for testing, collecting relevant clinical information and reporting results from genomics tests are needed.

The PHG Foundation, based in Worts Causeway, is a think tank with special focus on how genomics and other emerging health technologies can provide effective, personalised healthcare.

Case study

A patient with end stage kidney disease of an unknown cause should be tested for the genetic disease Alport syndrome.

A family history of renal disease, coupled with hearing loss or eye abnormalities, indicates a need for referral for genomic testing.

Currently, however, a nephrologist (kidney specialist) would not necessarily have the expertise or equipment to make the required detailed eye and ear examinations that indicate the need for genomic testing.

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