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Updated: Jun 4, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Challenges in obtaining adequate genetic sample sets in clinical trials: the perspective of the industry
A W Warner1, A Bhathena, S Gilardi
1Clinical Pharmacogenomics and Clinical Specimen Management, Merck & Co., Inc., North Wales, Pennsylvania, USA. amelia.warner@merck.com
Abstract:
Collection of DNA samples from subjects participating in clinical trials is vital to understanding variability in drug response. The purpose of this study was to assess pharmacogenetic sample-collection practices in the industry and to gather information on issues affecting collection. A survey questionnaire was developed and distributed to 20 pharmaceutical companies; 15 provided responses. Assessments included rate of DNA sample collection, reasons for low collection rates, reasons for rejection by health authorities (HAs) and institutional review boards/ethics committees (IRBs/ECs), and country-specific hurdles to sample collection. The results indicated that, although DNA samples are frequently collected, sample-acquisition rates remain lower than expected. Overall, the companies' experience has been that restrictions on sample usage are not consistently applied by regulatory bodies. This may reflect changing opinions/interpretations of HAs/IRBs/ECs. Collection of DNA samples in industry trials is still a challenge. Harmonization of sample-collection practices may facilitate the process.
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