在亚洲门诊诊所实施先期药物基因组学检测(IMPT 研究)

Fiona FJ Ng, Rashmi Verma, Levana Sani, Astrid Irwanto, Michael Lee, Angeline Wee, Shih Kiat Chng, Melvyn Wong, Alexandre Chan
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引用次数: 0

摘要

研究背景鉴于在基层医疗机构开展抢先药物基因组学(PGx)检测的相关数据有限,我们设计了一项研究来评估在门诊诊所开展抢先药物基因组学检测服务的可行性,目的是评估在基层医疗机构开展抢先药物基因组学检测的实用性和挑战,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 月期间在新加坡的五家门诊诊所进行。研究招募了年龄在 21 岁至 65 岁之间、有目标慢性病病史或患病风险的患者,或接受 29 种 PGx 相关药物治疗的患者。患者的口腔样本使用 Nala RxReady 进行处理,这是一个基于多基因 qPCR 的面板,包含五种药物基因的 21 个等位基因变异。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。结果:在 222 名患者中,95% 的患者至少有一个可用于临床的变异基因。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PGx结果接受了至少一项临床可操作建议。共有 150 名患者(67.6%)参加了测试后的随访调查。其中,70%的患者在收到检测报告后表示感到轻松和高兴,并表示对服用处方药的信心增强了。此外,临床医生还认为有必要制定更明确的 PGx 检验法律法规和保险范围,以促进 PGx 检验在未来的应用:鉴于几乎所有接受检测的患者中都存在较高的临床可操作性变异,本研究强调了在初级保健诊所进行先期 PGx 检测的可行性和临床益处。
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Implementation of Pre-emptive Pharmacogenomics Testing in Outpatient Clinics in Asia (IMPT study)
Background: 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. Methods: 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 the Nala RxReady, 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. Results: 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. Conclusions: 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.
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