Genetic and other omics-based information in the most-cited recent clinical trials

Abstract

Abstract Introduction Since the genomic revolution, the utilization of genetic and omics technologies has undergone considerable expansion within clinical studies, employed in design, analysis, and interpretation. Methods A recent study of Siena et al. developed a database containing the 600 most cited clinical trials published from 2019 to 2022. Building on this database, the aim of our study is to assess how frequently genetic and other omics-based information has been used in the design, analysis, results or conclusion of these recent influential trials. Results 132 out 600 (22%) trials used genetic or other omics. These trials were more likely to be oncology trials (76%vs34%), having industry funding (59%vs47%), and having industry authors (75%vs54%) than others. Overall, genetics and genomics were present in 75% of the trials (100/132), and oncology was the predominant medical field (76%, n = 101). The prevailing use was detection of specific mutations (n = 99), often (n = 60) used as eligibility criterion. These mutations were mostly somatic (n = 85), while 14 were germline. Other applications included transcriptomics (20.4%), proteomics (10.6%), metabolomics (8.3%) and metagenomics (8.3%). 36 studies (27%) employed multiple applications. Genetics or other omics were used in 10% of the studies (14/132) for randomization stratification and in 63% (83/132) to conduct subgroup analysis. Among the latter, in 48% (40/83) the presence of a somatic mutation was significantly associated with the investigated health outcomes, while germline mutation or other omics only in the 12% (10/83). In the trials conclusions, authors addressed the relevance of the genetic or omics information in 62.1% (82/132) of the trials. Conclusions A sizeable proportion of the most-cited clinical trials use genetics or omics-based information, but the large majority pertains to cancer mutations in oncology trials. Use of genetics and omics needs to become more common in other clinical trial fields. Key messages • Genetic profiling and omics applications should be incorporated into trial design. • Genomic research is mostly oncology related and it needs to be expanded to other medical fields.