Every year, hundreds of thousands of people with cancer begin treatment with fluoropyrimidine chemotherapy drugs such as 5-fluorouracil (5-FU), a cytotoxic agent that kills via RNA damage rather than the DNA mechanism long assumed, and capecitabine, standard therapies for colorectal, breast, pancreatic, stomach, and head and neck cancers. For a meaningful minority of them, the drugs turn dangerous: an estimated two to eight percent of people carry variants in DPYD, which encodes dihydropyrimidine dehydrogenase (DPD), the enzyme responsible for metabolizing fluoropyrimidine drugs; those with reduced DPD activity can face life-threatening toxicity at doses that are otherwise well tolerated. Guidelines from the Clinical Pharmacogenetics Implementation Consortium (CPIC) have called for dose reductions or alternative regimens in affected patients for years, yet laboratories have adopted pre-treatment genetic testing inconsistently, and most available assays have long covered only a handful of relevant variants.
Yourgene Health announced the commercial launch of its Yourgene Insight DPYD assay after the test achieved certification under the European Union's (EU) In Vitro Diagnostic Regulation (IVDR), clearing it for use in regulated clinical laboratories across the bloc. The launch follows its May 2026 debut as a research-use-only product and completes the assay's transition to full IVDR compliance.
Inside the Yourgene Insight DPYD assay
The Yourgene Insight DPYD assay detects 19 clinically relevant variants in DPYD, screening for the reduced-activity alleles that impair DPD-mediated drug metabolism. It uses an amplification refractory mutation system (ARMS) workflow, a form of allele-specific polymerase chain reaction (PCR) that distinguishes variant from wild-type DNA sequences without requiring next-generation sequencing infrastructure. The kit ships with ready-to-use reagents and built-in data interpretation tools, and returns results quickly enough to inform dosing before a patient's first chemotherapy cycle.
Yourgene Health describes the assay as the first CE-marked, IVDR-certified DPYD test to cover every variant in Tier 1 and Tier 2 of the 2024 joint consensus recommendations issued by the Association for Molecular Pathology (AMP), the American College of Medical Genetics and Genomics, and several partner professional societies. Those tiers reflect the strength of evidence linking a given variant to reduced DPD activity, with Tier 1 variants carrying the most consistent clinical evidence for dose adjustment. The National Comprehensive Cancer Network (NCCN) now recommends universal testing before capecitabine rather than testing only patients who already show signs of toxicity, a shift that increases pressure on laboratories to offer broader variant coverage.
Variant scope determines clinical reach, because each DPYD allele a panel omits represents a category of at-risk patients the test cannot flag. Yourgene expanded the kit from its 2019 debut with six variants to the current 19, adding markers that extend coverage to populations underrepresented in narrower testing panels. Key assay features include:
- Coverage of 19 DPYD variants, including all AMP- and NCCN-recognized Tier 1 and Tier 2 markers
- ARMS-based, allele-specific PCR chemistry with ready-to-use reagents
- Same-day turnaround supporting pre-treatment dosing decisions
- Compatibility with colorectal, breast, pancreatic, stomach, and head and neck fluoropyrimidine regimens
- IVDR certification for regulated European clinical laboratories
Which DPYD genotyping approach best suits a regulated European lab?
For European laboratories operating under IVDR, certification for clinical diagnostic use is the threshold requirement, with relatively few DPYD panels meeting that bar as of mid-2026. Beyond that, variant coverage and the analytical platform a laboratory already runs determine the most practical fit. DPYD genotyping is not new, but the panels available vary widely in scope and regulatory status.
Some diagnostic manufacturers market research-use-only DPYD panels built on mass spectrometry multiplexing, a workflow suited to laboratories already running pharmacogenomic testing on that chemistry; those products are not cleared for EU clinical diagnostic use. Reference laboratories and centralized testing services offer send-out DPYD genotyping and, in some cases, full gene sequencing, validated internally as laboratory-developed tests rather than cleared under IVDR or by the US Food and Drug Administration (FDA).
| Testing approach | Typical variant coverage | Technology | Regulatory status |
|---|---|---|---|
| IVDR-certified allele-specific PCR panels | Up to 19 variants, covering all AMP/NCCN Tier 1 and Tier 2 markers | ARMS allele-specific PCR | Cleared for EU clinical diagnostic use |
| Mass spectrometry-based pharmacogenomic panels | Typically 15–18 variants; Tier 2 coverage varies by product | Multiplexed mass spectrometry | Research use only; not cleared for EU clinical diagnostics |
| CPIC guideline core variant set | 4 variants (DPYD*2A, DPYD*13, c.2846A>T, HapB3) | Varies by testing laboratory | Basis for most laboratory-developed tests |
| Reference laboratory send-out tests | Variable; often narrower than current consensus panels | PCR or sequencing-based, varies by lab | Laboratory-developed test validation |
IVDR has reshaped the DPYD diagnostic testing landscape independent of any single company's product. The regulation replaced the EU's prior in vitro diagnostic directive and requires manufacturers to generate substantially more clinical evidence, subjecting a much larger share of diagnostic devices to independent notified-body review. The staggered compliance deadlines by class set the highest-risk device categories' cutoff at May 2025 and lower-risk classes at 2027; that timeline has pushed many diagnostics companies to decide which legacy tests to re-certify and which to retire.
Lyn Rees, chief executive officer of Novacyt, said the IVDR certification fits the company's pharmacogenomics product strategy. "The launch of the IVDR-certified Yourgene Insight DPYD assay is an important milestone for Novacyt and demonstrates our ability to translate scientific innovation into clinically relevant products that address urgent healthcare needs," Rees said. "As precision medicine continues to evolve, pharmacogenomic testing is becoming increasingly important in supporting safer and more effective treatment decisions."
Even comprehensive variant coverage has limits. Research in Genome Medicine has found that a substantial share of severe fluoropyrimidine toxicity occurs in patients with no detectable DPYD variant, meaning current panels miss a significant proportion of at-risk individuals. Expanded assays reduce, but do not eliminate, unanticipated toxicity risk, and clinicians are expected to monitor patients closely regardless of genotype result.
Pharmacogenomic DPYD testing: the road ahead in European oncology
Yourgene Health has not disclosed plans for FDA clearance of the Insight DPYD assay; US expansion would require a separate regulatory submission, and European deadlines for additional device classes continue through 2027. Broader adoption will depend on whether more oncology guidelines follow the NCCN's shift toward universal pre-treatment testing rather than testing patients only after toxicity appears. Laboratories weighing which DPYD panel to adopt will continue to balance variant coverage, turnaround time, and regulatory status against the characteristics of their local patient populations.
This article is based on a press release issued by Yourgene Health and was produced under Drug Discovery News' AI Editorial Guidelines.
