At present, pharmacogenomic tests are not available for all medications and are not widely employed as preventive measures in patient care. Globally, health insurance often does not even cover pharmacogenomic tests. This may change in the future, however, especially as pharmacogenomic testing becomes less expensive. Since an individual's genetic makeup remains constant, a pharmacogenomic test only needs to be performed once and bring lifelong benefits.

Challenges in broader adoption

There are several challenges to turning pharmacogenomic testing into routine practice: It would require investments in both technology and upskilling the workforce. Healthcare systems across the globe face the challenge of moving care upstream and moving to more preventative models of care, according to Videha Sharma, clinical innovation lead for the University of Manchester. "The prescribing of medicines is the most common therapeutic intervention in healthcare and offers a fantastic opportunity to avoid harmful side effects to make medicines more effective from the start. As such, there is a huge potential to boost the way we manage diseases at scale," Sharma said.

Current clinical use cases

Pharmacogenomics is gradually being introduced into clinical care, though it has not yet become a standard practice. In 2023, the National Institute for Health and Care Excellence (NICE) published draft guidance recommending point-of-care genomic testing for people who have had a stroke. The purpose of this test is to detect whether there have been changes 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, which 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, since one in 500 babies can suffer permanent hearing loss when prescribed this drug. This can be prevented by detecting the CYP2C19 mutation.

However, there are uncertainties around how to implement testing, how to share results across care settings and what the role of patients is so they feel empowered to receive personalised medicines. As a result, Sharma advocates for strong multi-disciplinary and cross-industry collaboration and has actively helped build a team of clinicians, designers, technologists and public contributors.

Upcoming plans of the NHS

In 2022, the British Pharmacological Society and the Royal College of Physicians published a report that calls for pharmacogenomic testing to be integrated fully, fairly and swiftly into the NHS in the UK. According to the authors, this will empower healthcare professionals to deliver better, more personalised care, and in turn improve outcomes for patients and reduce costs to the NHS.

The desire to advance pharmacogenomics in the clinical practice is there; it will simply require some time to achieve this goal. The "what" and the "why" have been clearly stated and are obvious to most key stakeholders – the question of "how" still remains, and bridging the gap, genomics and digital health together will help realise the benefits of pharmacogenomics to patients and populations.

Clinical Innovation Lead for the University of Manchester Videha Sharma will be speaking at the Precision Digital Solutions for Personalised Care session during the 2024 HIMSS European Health Conference & Exhibition, which is scheduled to take place 29-31 May 2024 in Rome. Learn more and register.