Ng Fiona Fj, Verma Rashmi, Sani Levana, Irwanto Astrid, Lee Michael, Wee Angeline, Chng Shih Kiat, Wong Melvyn, Chan Alexandre
NalaGenetics Pte Ltd (NalaGenetics), Singapore, Singapore.
Raffles Medical Group, Singapore, Singapore.
Pharmacogenomics J. 2025 Mar 12;25(1-2):7. doi: 10.1038/s41397-025-00366-1.
In view of the limited data related to preemptive pharmacogenomics (PGx) testing in the primary care setting, we designed a study to assess the feasibility of implementing preemptive PGx services at outpatient clinics, with the aim to assess the practicality and challenges of implementing preemptive PGx testing within primary care, and its impact on clinical workflows and patient care. This prospective study was conducted between October 2022 and August 2023 at five outpatient clinics located in Singapore. Patients aged 21 to 65 with a reported history or risk of developing any of the target chronic conditions or any patients receiving one of the 29 PGx-associated medications were recruited. Patients' buccal samples were processed using a multi-gene qPCR-based panel of 21 allele variants of five pharmacogenes. Surveys were administered to study participants and clinicians to assess their perceptions and outcomes related to PGx testing. Among the 222 patients, 95% had at least one clinically actionable variant. Of these patients, 113 reported taking at least one of the 29 studied drugs, with 21.2% of them receiving at least one clinically actionable recommendation based on their PGx results. A total of 150 patients (67.6%) participated in the post-test follow-up survey. Among them, 70% expressed feeling relieved and happy upon receiving their test reports and reported increased confidence in taking their prescribed medication. Furthermore, clinicians identified the necessity for clearer legal regulations regarding PGx testing and insurance coverage to enhance future adoption of PGx testing. Given a high prevalence of clinically actionable variants in almost all tested patients, this study underscores the feasibility and clinical benefits of preemptive PGx testing in primary care clinics in Singapore.Clinical Trial Registration: This study is registered with ClinicalTrials.gov, identifier NCT05504135, with the registration date of August 17, 2022.
鉴于在基层医疗环境中，与抢先式药物基因组学（PGx）检测相关的数据有限，我们设计了一项研究，以评估在门诊诊所实施抢先式PGx服务的可行性，目的是评估在基层医疗中实施抢先式PGx检测的实用性和挑战，以及其对临床工作流程和患者护理的影响。这项前瞻性研究于2022年10月至2023年8月在新加坡的五家门诊诊所进行。招募了年龄在21至65岁之间、有报告称有发生任何目标慢性病的病史或风险的患者，或任何正在接受29种与PGx相关药物之一治疗的患者。使用基于多基因qPCR的检测板对患者的颊拭子样本进行处理，该检测板可检测5种药物代谢基因的21个等位基因变体。对研究参与者和临床医生进行了调查，以评估他们对PGx检测的看法和结果。在222名患者中，95%至少有一个具有临床可操作性的变体。在这些患者中，113人报告至少服用了29种研究药物中的一种，其中21.2%的患者根据其PGx结果接受了至少一项具有临床可操作性的建议。共有150名患者（67.6%）参与了检测后随访调查。其中，70%的患者表示收到检测报告后感到安心和高兴，并报告对服用处方药的信心增强。此外，临床医生确定需要更明确的关于PGx检测和保险覆盖范围的法律法规，以促进未来PGx检测的采用。鉴于几乎所有检测患者中具有临床可操作性变体的患病率很高，本研究强调了在新加坡基层医疗诊所进行抢先式PGx检测的可行性和临床益处。临床试验注册：本研究已在ClinicalTrials.gov注册，标识符为NCT05504135，注册日期为2022年8月17日。
