Quality-of-life measures in pharmacogenomic studies: a systematic review

There are various quality of life (QoL) tools utilised in pharmacogenomic studies, but it remains unclear which tools are most frequently used. Our aim was to identify the types of QoL measures currently used in pharmacogenomic studies and address the existing evidence gap.

A systematic review screened PubMed, Cochrane Library, Ovid, and Embase from inception through April 30, 2024. The search terms were "Pharmacogenetics" AND ("quality of life" OR "PROMS" OR "PREMS" OR "health related quality of life" OR "'EuroQol" OR "utility" OR "generic" OR "time trade off" OR "standard gamble" OR "SF-6D" OR "EQ-5D"). Our inclusion criteria were randomised clinical trials, cohort studies and cross-sectional studies that utilised generic and/or disease-specific QoL measures related to pharmacogenomics.

Twelve studies met the inclusion criteria, from which we identified the following tools: EORTC QLQ-C30 (n = 3), SF-36 (n = 3), SF-12 (n = 1), WHOQOL-BREF (n = 1), Q-LES-Q-SF (n = 1), FACT-Melanoma (n = 1), QLQ-C30 + QLQ BN20 (n = 1), QLQ-C30 + QLQ-CIPN20 (n = 1). The SF-36, SF-12, WHOQOL-BREF, and Q-LES-Q-SF are generic QoL questionnaires, while FACT-Melanoma, QLQ BN20, and QLQ-CIPN20 are disease specific. The EORTC QLQ-C20, although generic, is tailored for cancer patients. None of the included studies justified their choice of quality-of-life tool, nor was there consistency in how scores were reported in terms of overall and domain-specific outcomes.

Pharmacogenomic studies employed diverse QoL instruments, hindering consistent and reliable reporting. Future studies should justify QoL tool selection and report both overall and domain-specific outcomes consistently to enable valid comparisons and inform decision-making.