In rare disease and genetically stratified trials, recruitment often depends on a single critical step: confirming that a patient carries the relevant genetic variant.
Genetic testing has become a core component of patient identification and stratification in modern clinical trials, particularly in rare disease and precision medicine programs. Direct-to-patient testing models are now widely used to expand reach, reduce site burden, and accelerate eligibility assessment.
On the latest episode of The Genetics Podcast, Patrick welcomed Dr. Andrea Ganna, an Associate Professor at the Institute for Molecular Medicine Finland (FIMM), part of HiLIFE at the University of Helsinki, an Associated Faculty member at the ELLIS Institute Finland, and a Research Associate at Massachusetts General Hospital and Harvard Medical School. They discussed a shift that many in biomedical R&D are now grappling with: after years of work in large-scale genetics, polygenic scores, and biobanks, his focus is expanding toward electronic health records (EHRs) and foundation models built on health system data.
At Seqera Sessions London 2026, Dr. Katie Barnes, Head of Clinical Genetics at Sano Genetics, outlined a practical challenge facing the field: how to move from fragmented patient identification and testing processes to scalable systems that can support modern clinical trials. Her talk focused on the clinical and bioinformatics infrastructure required to make that shift possible.
Recruitment in genetically stratified clinical trials is often constrained by a simple problem: large screening volumes do not translate into eligible patients. Sponsors can process thousands of participants, yet only a small fraction meet protocol criteria after genetic testing. This creates delays, increases cost, and limits confidence in scaling recruitment programs.
Somerset, UK, 18th March 2026: Predictive Health Intelligence (PHI) and Sano Genetics today announced the completion of recruitment into the LiveWell study, with 996 participants enrolled from a single NHS site in less than a year.
Genome sequencing is now a core part of rare disease diagnostics in several healthcare systems. However, the path from sequencing technology to clinical impact still depends on infrastructure, interpretation, and coordinated healthcare delivery.
Recruiting and retaining patients in rare disease and genomic medicine research requires more than outreach. Many participants need support understanding genetic risk, the purpose of research, and the practical burden of trial participation.
Genetic screening has advanced rapidly over the past two decades. Sequencing is faster and far less expensive, and the ability to interpret genetic variants continues to improve. Despite these advances, screening is still not widely integrated into everyday care.
Rare disease trials operate under structural constraints that make site selection more important than in common disease programs. Patient populations are small, diagnosis often depends on genomic testing, and protocols frequently require specialized assessments and long-term follow-up.