O'Donnell Peter H, Danahey Keith, Jacobs Michael, Wadhwa Nisha R, Yuen Shennin, Bush Angela, Sacro Yasmin, Sorrentino Matthew J, Siegler Mark, Harper William, Warrick Andrea, Das Soma, Saner Don, Corless Christopher L, Ratain Mark J
Am J Med Genet C Semin Med Genet. 2014 Mar;166C(1):68-75. doi: 10.1002/ajmg.c.31385. Epub 2014 Mar 10.
Pharmacogenomic testing is viewed as an integral part of precision medicine. To achieve this, we originated The 1,200 Patients Project which offers broad, preemptive pharmacogenomic testing to patients at our institution. We analyzed enrollment, genotype, and encounter-level data from the first year of implementation to assess utility of providing pharmacogenomic results. Results were delivered via a genomic prescribing system (GPS) in the form of traffic lights: green (favorable), yellow (caution), and red (high risk). Additional supporting information was provided as a virtual pharmacogenomic consult, including citation to relevant publications. Currently, 812 patients have participated, representing 90% of those approached; 608 have been successfully genotyped across a custom array. A total of 268 clinic encounters have occurred at which results were accessible via the GPS. At 86% of visits, physicians accessed the GPS, receiving 367 result signals for medications patients were taking: 57% green lights, 41% yellow lights, and 1.4% red lights. Physician click frequencies to obtain clinical details about alerts varied according to color severity (100% of red were clicked, 72% yellow, 20% green). For 85% of visits, clinical pharmacogenomic information was available for at least one drug the patient was taking, suggesting relevance of the delivered information. We successfully implemented an individualized health care model of preemptive pharmacogenomic testing, delivering results along with pharmacogenomic decision support. Patient interest was robust, physician adoption of information was high, and results were routinely utilized. Ongoing examination of a larger number of clinic encounters and inclusion of more physicians and patients is warranted.
药物基因组学检测被视为精准医学的一个组成部分。为实现这一目标,我们发起了“1200名患者项目”,该项目为我们机构的患者提供广泛的、预防性的药物基因组学检测。我们分析了实施第一年的登记、基因型和就诊层面的数据,以评估提供药物基因组学结果的效用。结果通过基因组处方系统(GPS)以交通信号灯的形式呈现:绿色(有利)、黄色(谨慎)和红色(高风险)。还提供了额外的支持信息作为虚拟药物基因组学咨询,包括相关出版物的引用。目前,已有812名患者参与,占邀请人数的90%;608名患者通过定制阵列成功进行了基因分型。总共发生了268次临床就诊,通过GPS可以获取结果。在86%的就诊中,医生访问了GPS,收到了367个关于患者正在服用药物的结果信号:57%为绿灯,41%为黄灯,1.4%为红灯。医生获取警报临床细节的点击频率因颜色严重程度而异(100%的红灯被点击,72%的黄灯,20%的绿灯)。在85%的就诊中,至少有一种患者正在服用的药物有临床药物基因组学信息,这表明所提供信息具有相关性。我们成功实施了一种预防性药物基因组学检测的个性化医疗模式,同时提供结果和药物基因组学决策支持。患者兴趣浓厚,医生对信息的采纳率高,结果得到了常规利用。有必要对更多的临床就诊进行持续检查,并纳入更多的医生和患者。