EMA plans major update to pharmacogenomics guideline
The European Medicines Agency's (EMA) Committee for Medicinal Products for Human Use (CHMP) is planning to update a 2018 guideline on good pharmacogenomic practices. While the guideline is less than a decade old, the pace of change in pharmacogenomics has prompted regulators to revisit their recommendations.
"Advancements in the field of pharmacogenomics necessitate a revision of the existing guideline to ensure its continued relevance and applicability," said EMA. "In addition to incorporating new scientific knowledge, this revision aims to provide greater clarity on topics already covered, facilitating more precise and actionable guidance for regulators and stakeholders."
The agency said it expects a draft version of the guideline to be released for comment in 2027 or 2028, with a final version being issued in 2028.
EMA isn’t the only regulator working to update pharmacogenomic requirements. The US Food and Drug Administration has stated it also plans to issue new guidance on clinical pharmacogenomics information in drug and biological product labeling. In 2023, the agency also issued a draft guidance on pharmacogenomic data submissions. (RELATED: CDER announces new guidance agenda for 2025, Regulatory Focus 23 January 2026; Pharmacogenomic data guidance: Industry objects to reporting exploratory studies, Regulatory Focus 21 June 2023)
EMA said that several areas of the guideline require “major revisions” or new guidance altogether, including pharmacogenomic methodology, interpretations and recommendations, reporting and nomenclature, pharmacogenomic study design, and the role of pharmacogenomics in pharmacovigilance.
Under the pharmacogenomic methodology domain, the agency said improvements in sequencing technologies, especially those that enable longer reads, mean researchers can better distinguish complex gene structures, such as hybrid genes with high homology and genomic phasing.
"These advancements have significant implications for the identification and interpretation of pharmacogenetic variants," said EMA. "The revised guideline will therefore include aspects on the usage of third generation long read sequencing and will include aspects on quality control measures that were not elaborated on previously.
The agency, however, noted that direct ribonucleic acid (RNA) sequencing and epigenetic sequencing will not be a part of the updated guideline.
EMA said that it needs to update analytical considerations for specific pharmacogenomic methodologies, including polymorphic genes and substrate specificity, deoxyribonucleic acid (DNA) variants across different ancestries, and proficiency testing. Furthermore, the agency said the updated guideline should expand on phenotype and genotype correlations and how they translate into clinical recommendations. Regulators also said they need to update recommendations for medicinal product use.
"Greater clarity is needed regarding medicinal product use recommendations before and after market authorization," said EMA. "When a medicinal product is predominantly metabolised by a single pharmacogene product, it is essential to ensure that non-functional variants of that gene are incorporated into safety protocols.
"If specific dosing recommendations are based on specific DNA variants or haplotypes, this must be explicitly stated," the agency added.
The concept paper also states that there needs to be updates to the nomenclature used to report premarket and postmarket information, and says new considerations must be made for how pharmacogenomic interventional and non-interventional studies are designed and conducted. It also emphasized the need to update requirements for conducting pharmacovigilance. Among the updates, regulators emphasize the need to follow international standards and considerations for using real-world data.
"The guideline will enhance the understanding of methodological concepts and challenges in the field of pharmacogenomics," said EMA. "It will outline best practices for pharmacogenomics, ensuring consistency, and providing a clear framework for regulators and stakeholders, which is anticipated to benefit public health."
