Rapid genetic testing to reduce risk of secondary strokes in people with CYP2C19 gene mutations
Manchester researchers have worked with Genedrive plc to develop a new rapid genetic test to identify gene mutations that could reduce the effectiveness of a drug commonly prescribed to people who have had an ischaemic stroke.
- Approximately 1 in 10 people have a genetic mutation, meaning standard treatment for prevention of further stroke is less effective for them.
- Genedrive's test will provide results in around 40 minutes, so patients can be offered alternative treatments sooner.
- NICE draft guidance recommends genotype testing if treatment with clopidogrel is being considered.
In the UK, 100,000 people have a stroke every year, and there are around 1.3 million stroke survivors. The most common type of stroke is ischaemic stroke, which happens when the flow of blood and oxygen to the brain is blocked, usually by a blood clot.
People who have had an ischaemic stroke or transient ischaemic stroke (TIA), a related condition, are at increased risk of further strokes or heart attack. Clopidogrel is the drug most often prescribed to these patients to reduce their risk of further clot formation and further strokes.
To be effective, clopidogrel needs to be metabolised (converted) into an active form within the body. This is done by the gene CYP2C19. Approximately 1 in 10 people in the UK have variants in this gene that mean they cannot metabolise the drug or they do so less well, so treatment with clopidogrel is less effective for them.
Clinicians need to be able to identify these people quickly so that they can be offered an alternative treatment to reduce their risk of further strokes. This requires a rapid, point of care genetic test.
Prof William Newman
Bill is Professor of Translational Genomic Medicine at the Manchester Centre for Genomic Medicine at The University of Manchester, and Honorary Consultant at Manchester University NHS Foundation Trust.
Collaborating to get new genetic tests to clinic faster
The DEVOTE Programme (Development and Validation of Technology for Time Critical Genomic Testing) is funded by Innovate UK, and is led by Professor William Newman, Professor of Translational Genomic Medicine at The University of Manchester and honorary consultant at Manchester University NHS Foundation Trust (MFT).
The project aims to develop collaborations between universities, industry and healthcare professionals to support the development and implementation of time critical genomic testing into the clinic faster, so patients benefit sooner.
New genetic test to reduce risk of further strokes
As part of DEVOTE, our researchers have worked with Manchester-based company Genedrive PLC to create and validate a new rapid genetic point of care test that can detect mutations in the CYP2C19 gene.
David Budd, Chief Executive Officer of Genedrive plc, says: "DEVOTE is an amazing opportunity to engage formally with a health system like the NHS to demonstrate the effectiveness of a new diagnostic approach… We are privileged to continue with our partners at The University of Manchester and MFT in developing time-critical genetic test solutions."
Faster results to help guide prescribing early
The Genedrive CYP2C19-test can be used within stroke units and provides results in around 40 minutes. This will give clinicians early access to important genetic information about their patients to guide their prescribing to best treat the patient. Using a genetic test to tailor the prescription of medicines to patients is called pharmacogenetics.
Potential cost savings for NHS
Our researchers also carried out early cost-effective analysis and found that using the test to guide prescription of clopidogrel for people who have had a stroke could provide cost savings for NHS.
Testing recommended by NICE
In May 2023, NICE produced draft guidance that recommends genotype testing if treatment with clopidogrel is being considered. Final guidance in due to be released in September 2023. We hope that this test will soon be able to be used by clinicians for this purpose.
- The role of CYP2C19 genotyping to guide antiplatelet therapy following ischemic stroke or transient ischemic attack
- Development of a point-of-care genetic test for effective treatment of ischaemic stroke: an early model-based cost-effectiveness analysis [version 1; peer review: awaiting peer review]