Improving prescribing: a feasibility study of pharmacogenetic testing with clinical decision support in primary...

The study of genetic variation as a factor influencing drug safety, efficacy, and effectiveness has brought about significant breakthroughs in understanding the clinical application of gene-drug interactions to better manage drug therapy.

This study was designed to assess the feasibility of collecting buccal samples by general practitioners (GPs) at private practices in Singapore within a usual consultation, incorporating use of a pharmacogenetics-based medical decision support system to guide subsequent drug dosing.

We used a prospective cohort study design, with GPs recruiting 189 patients between October 2020 and March 2021. The genotypes of 51 biallelic SNPs were determined using Illumina Infinium Global Screening Array.

Seven GPs from 6 private practices recruited and obtained buccal samples from a total of 189 patients. All patients had at least one actionable variant. The prevalence of patients having 2, 3, or 4 variants was 37.0%, 32.8%, and 12.7%, respectively. Potential alterations to medications were identified using the Clinical Decision Support System. Patients were accepting and the GPs were enthusiastic about the potential of pharmacogenetics to personalize medicine for their patients.

This is the first study in Singapore to demonstrate the feasibility of pharmacogenetic testing in primary care. The high prevalence of genetic variants underscores the potential use of pharmacogenetics in this setting.