Yourgene Health (part of Novacyt Group) – an international molecular diagnostics company headquartered in Manchester, UK – were early adopters of pharmacogenomics. Their DPYD assay was launched in 2019, marking the start of a new era in the group’s contributions to healthcare.
Much work has been done on standardization of testing since then, with a suite of guidance now available. But growth in the market remains relatively slow, with few approved tests available and barriers to reimbursement impeding wider adoption in clinical practice.
Here, Jo Mason, Chief Scientific Officer at Yourgene Health, provides her perspective on the pharmacogenomics testing landscape and considers what policy shifts are needed to improve access.
What drives you to pursue new innovations in personalized medicine?
I'm really excited about influencing the care of patients – so that it’s the best it can be. That's what has driven me throughout my career. And pharmacogenomics can make that possibility a reality. It allows the patient to access the right level of a drug or to switch to a more suitable drug. Specifically in oncology, it matches patients to the most appropriate treatment based on the specific mutations in their cancer.
We have the knowledge and the ability to develop these tests and roll them out. So, it would be wonderful to see everybody being able to access the most appropriate medicines through a personalized approach, rather than by trial-and-error.
What are some of the unmet needs in pharmacogenomic testing?
DPYD was one of the first pharmacogenetic tests to be recommended. New guidance was issued in 2024 – from a joint consensus of the leading policy leaders in genetics – that expanded the list of recommended mutations to include in the testing. That helps the test cover more diverse, global populations, accounting for ethnic diversity and rarer mutations. So we're now focused on updating our DPYD assay in accordance with those guidelines to create a really global, up-to-date product.
In the UK, 2024 guidance for pharmacogenomic testing to assess the suitability of clopidogrel for stroke. We are obviously interested in developing tests to address unmet needs like that one, while the medical community readies itself to prescribe drugs based on a patient’s genome.
Other countries and regions have their own priorities and reimbursement strategies for pharmacogenomics that drive priorities. But there are plenty of organizations – such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the American College of Medical Genetics and Genomics (ACMG) – now working on guidance and standardization, which will help enormously with the adoption of new tests.
What technology does your DPYD test employ?
Our DPYD test uses amplification refractory mutation system (ARMS) polymerase chain reaction (PCR) technology – which is less complex than it sounds. It involves PCR followed by capillary electrophoresis and, unlike some other PCR techniques, it can be highly multiplexed. In that way we can ensure that all the relevant markers are included – but in a single test. It avoids the need for multiple assays to cover the breadth of variants that need to be included.
The DPYD testing guidelines that I mentioned before recommend including panels for tier one and tier two mutations. We are updating our DPYD assay to include all of those. With some technologies, such as the qPCR assay, you can only include four or five targets, whereas we have other assays using the ARMS PCR technology that include 50 targets.
Using a single panel, our updated assay will include rarer variants, which gives patients the right result, first time from a single test. We’re big advocates of this technology – it's very cost effective and relatively easy for a lab to set up and use.
What challenges do laboratories face in implementing pharmacogenomic testing?
In the UK, a clinical lab that is setting up any new test has to assure it’s fit for purpose and meets their ISO 15189 accreditation needs. By selecting an In Vitro Diagnostics Regulation (IVDR)-approved assay, the lab avoids having to design, develop, and validate it themselves. They just have to verify the performance of the assay against the manufacturer’s specifications. That significantly reduces the barriers to implementation.
For labs implementing DPYD testing for the first time, performance testing can be challenging because they won’t have samples with the known mutations to test against. Manufacturers can help by providing the controls needed for the performance testing of assays. Yourgene Health is working on providing a control with a broad panel of mutations that can help a lab prove that the assay is working as it should.
What are your plans for expanding your portfolio in pharmacogenomics?
Our future focus will encompass both individual pharmacogenomic tests and syndromic tests, where we focus on an area of disease, including all of the relevant pharmacogenomic targets. We’re aiming for a situation where a physician can prescribe on the basis of a single test.
How should genetics companies collaborate with healthcare providers and labs to improve the clinical utility of testing?
It’s really about understanding what the different labs are trying to do. Some labs don't want large gene panels because they're only reimbursed for one or two markers. We need to understand what the global drivers are for pharmacogenomics, what can be reimbursed, and making sure that labs have options so they can select the right tools. The manufacturers need to be part of the community – and part of the conversation.
We work with a high throughput lab in Australia that wants our help in making the DPYD test compatible with their laboratory information management system and automation efforts, which will ultimately deliver test results to patients more quickly. Sometimes it’s important to work with individual labs on custom solutions.
It is also important to consider each country’s strategy for pharmacogenomics. The UK is focusing on the use of comprehensive genomic profiling, whereas Australia favors testing at the point of need. So, manufacturers need to offer a range of assays, ensuring they are updated according to the latest guidance.
The guidance ensures that the tests include the most relevant mutations that account for ethnic diversity. This shift is important because, in the past, testing has been geared towards a predominantly western population. The whole population of the world should be benefiting from modern diagnostics.
What do you think needs to change in order to move PGx into routine clinical practice?
We still have a lot to learn about genetic mutations and what they mean for a patient’s health and therapeutic response. The functional genomics initiatives will help drive our understanding of how genetic variation influences disease and will provide new drug targets. But new research and guidelines are coming out all the time that are improving our understanding.
The other thing that needs to improve is the availability of tests. In Europe, very few pharmacogenomic tests actually have IVDR approval. We need to see more tests going through that regulatory approval.
Another big challenge is making pharmacogenetic testing results accessible across a patient's clinical record. Whether they are being treated in the emergency room or collecting a prescription at the pharmacy, everyone involved in prescribing for that patient should have access to the pharmacogenetic data that indicate the most suitable drugs for that individual. And that’s really an IT issue. Patient records in different healthcare settings need to be linked. Otherwise, we will have situations where the patient has received pharmacogenomic testing but still walks away from the pharmacy with a medicine that could cause them toxic side effects.
Now that most people carry a mobile phone, maybe the answer is to make the patient the guardian of their test results…
What would help improve patient access to pharmacogenomic testing?
The key factor will be better strategies around reimbursement for tests. Pharmacogenomics is a relatively new science and so the payers are understandably cautious. But, now that we have really robust international and national guidelines on testing, it is frustrating that reimbursement is still disputed.
Improving access to pharmacogenomics is certainly a key priority in Australia. Meanwhile, in the US the situation with legal cases over 5FU therapy for various cancers is very bad. Patients have died and hospitals have been sued. DYPD testing can prevent this situation, as it identifies patients for whom 5FU is unsuitable or who require a lower dose. It costs only a few dollars to test, but hospitals are reluctant to order them because there are no dedicated reimbursement codes, and they are unsure what to do with the more complex results.
It is a shame when that kind of bureaucracy prevents patients having the best care and instead exposes them to horrible toxic events. The situation needs to change.
Most people want PGx for patients. I believe, with the right momentum, we will get there.
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