Feasibility of using pharmacogenetic testing with clinical decision support system in private GP clinics in singapore

M. Dawes, Xin Hui Sam, Helen Smith, Michael Winther
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Abstract

Primary care provides patients with immediate care at the first line of treatment. There are about 1,700 private general practitioner (GP) clinics providing 80% of the primary care services in Singapore. These GPs prescribe medications based on standard therapy and dosing guidelines. Medication change or dose modification will take place if the patient is unresponsive or experiences side effects. This conventional “trial -and- error” process of drug optimization is associated with increased cost, and subjects patients to risk of adverse drug reactions (ADRs). Pharmacogenetics offers personalized medicine based on genetic profile for optimal medication choice, reducing unnecessary healthcare utilization, ADRs and polypharmacy. We conducted a feasibility study in private GP practices of the utilization of pharmacogenetic testing and clinical decision support software (CDSS) in the management of patients with ≥1 common chronic diseases. The primary outcomes were adequacy of DNA in the samples collected by GPs and the number of clinically actionable variants among participants. The pharmacogenetic test panel was selected based on accuracy, speed of delivery and cost. Testing of the DNA was provided by the Genome Institute of Singapore using an Illumina array. Data on the selected single nucleotide polymorphisms were incorporated into the CDSS. Seven GPs from six private practices took part in the study. The buccal samples were taken by GPs within the GP consultation. GPs successfully identified, consented and obtained buccal samples from 189 patients. Of the 189 samples, 188 (99.5%) were successfully genotyped with sufficient DNA yield from first sample collection attempt. For the sample yielding insufficient DNA, a second sample was successfully genotyped. Two thirds of the participants had two or more morbidities requiring pharmacological treatment. Half of all participants had three or more clinically actionable pharmacogenetic variants as defined by Clinical Pharmacogenetics Implementation Consortium, Dutch Pharmacogenetics
新加坡私人全科医生诊所使用药物遗传学检测与临床决策支持系统的可行性
初级保健在治疗的第一线为患者提供即时护理。新加坡大约有1700家私人全科医生诊所,提供80%的初级保健服务。这些全科医生根据标准疗法和剂量指南开药。如果患者没有反应或出现副作用,则需要更换药物或调整剂量。这种传统的药物优化“试错”过程与成本增加有关,并使患者面临药物不良反应(adr)的风险。药物遗传学提供个性化的药物基于遗传特征的最佳药物选择,减少不必要的医疗保健利用,不良反应和多药。我们在私人全科医生的实践中进行了药物遗传学检测和临床决策支持软件(CDSS)在管理≥1种常见慢性疾病患者中的可行性研究。主要结果是全科医生收集的样本中DNA的充分性和参与者中临床可操作变异的数量。根据准确性、递送速度和成本选择药物遗传学检测面板。DNA检测由新加坡基因组研究所使用Illumina阵列提供。选择的单核苷酸多态性数据被纳入CDSS。来自6家私人诊所的7名全科医生参与了这项研究。口腔样本由全科医生在全科医生会诊期间采集。全科医生成功地识别、同意并获得了189名患者的口腔样本。189份样品中,188份(99.5%)成功分型,第一次样品采集获得了足够的DNA产量。对于产生DNA不足的样本,第二个样本成功地进行了基因分型。三分之二的参与者有两种或两种以上的疾病需要药物治疗。一半的参与者有三个或更多临床可操作的药物遗传变异,由临床药物遗传学实施联盟,荷兰药物遗传学定义
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