Pharmacogenomics can improve medication safety and reduce waste
Currently, pharmacogenomic testing is not available for all medications and is not widely used as preventive measures in patient care. Globally, health insurance policies often do not even cover pharmacogenomic testing. However, this may change in the future, especially as pharmacogenomic testing becomes cheaper. Because an individual’s genetic makeup remains constant, a pharmacogenomic test only needs to be performed once and provides lifelong benefits.
Challenges to wider adoption
There are several challenges in translating pharmacogenomic testing into routine practice: it would require investments in both technology and upskilling of the workforce. Healthcare systems around the world are facing the challenge of moving care upstream and towards more preventative care models, according to Videha Sharma, head of clinical innovation at the University of Manchester. “Drug prescribing is the most common therapeutic intervention in healthcare and offers a fantastic opportunity to prevent harmful side effects and make medicines more effective from the start. As such, there is enormous potential to improve the way we manage diseases at scale. Sharma said.
Current clinical use cases
Pharmacogenomics is gradually being introduced into clinical care, although it has not yet become standard practice. In 2023, the National Institute for Health and Care Excellence (NICE) published. draft guideline recommending point-of-care genomic testing for people who have had a stroke. The purpose of this test is to detect whether changes have occurred in a gene called CYP2C19. This specific mutation can guide prescribing.
For example, in cardiology, patients with coronary artery disease, vascular disease, or stroke are often prescribed a drug called clopidogrel. However, a patient may be a poor metabolizer of the drug, as CYP2C19 testing would reveal. In such cases, the patient would be offered an alternative.
Another example of when pharmacogenomic testing is valuable is prior to administering the antibiotic gentamicin to infants, as one in 500 infants may suffer permanent hearing loss when this drug is prescribed. This can be prevented by detecting the CYP2C19 mutation.
However, there are uncertainties about how tests should be implemented, how results can be shared across healthcare settings, and what the role of patients is so that they feel empowered to receive personalized medicine. As a result, Sharma advocates strong multidisciplinary and cross-sector collaboration and has actively helped build a team of clinicians, designers, technologists and public contributors.
Upcoming plans from the NHS
In 2022, the British Pharmacological Society and the Royal College of Physicians published a report that calls for pharmacogenomic testing to be fully, fairly and quickly integrated into the NHS in Great Britain. According to the authors, this will enable healthcare professionals to deliver better, more personalized care, and in turn improve outcomes for patients and reduce costs for the NHS.
There is a desire to advance pharmacogenomics in clinical practice; it will simply take some time to achieve this goal. The ‘what’ and the ‘why’ are clearly stated and are clear to most key stakeholders – the question of ‘how’ still remains, and bridging the gap together, genomics and digital health will help maximize the benefits of pharmacogenomics for patients and patients. populations.
Clinical Innovation Lead for the University of Manchester Videha Sharma will speak at the Precision Digital Solutions for Personalized Care session during the HIMSS European Health Conference & Exhibition 2024, scheduled for May 29-31, 2024 in Rome. More information and registration.