Schmidlen Tara, Sturm Amy C, Scheinfeldt Laura B
Coriell Institute for Medical Research, Camden, NJ 08003, USA.
Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA.
J Pers Med. 2020 Apr 23;10(2):29. doi: 10.3390/jpm10020029.
As pharmacogenomic (PGx) use in healthcare increases, a better understanding of patient needs will be necessary to guide PGx result delivery. The Coriell Personalized Medicine Collaborative (CPMC) is a prospective study investigating the utility of personalized medicine. Participants received online genetic risk reports for 27 potentially actionable complex diseases and 7 drug-gene pairs and could request free, telephone-based genetic counseling (GC). To explore the needs of individuals receiving PGx results, we conducted a retrospective qualitative review of inquiries from CPMC participants who requested counseling from March 2009 to February 2017. Eighty out of 690 (12%) total GC inquiries were focused on the discussion of PGx results, and six salient themes emerged: "general help", "issues with drugs", "relevant disease experience", "what do I do now?", "sharing results", and "other drugs". The number of reported medications with a corresponding PGx result and participant engagement were significantly associated with PGx GC requests ( < 0.01 and < 0.02, respectively). Our work illustrates a range of questions raised by study participants receiving PGx test results, most of which were addressed by a genetic counselor with few requiring referrals to prescribing providers or pharmacists. These results further support a role for genetic counselors in the team-based approach to optimal PGx result delivery.
随着药物基因组学（PGx）在医疗保健中的应用不断增加，有必要更好地了解患者需求，以指导PGx检测结果的传达。科里尔个性化医疗协作项目（CPMC）是一项调查个性化医疗效用的前瞻性研究。参与者收到了关于27种可能具有可干预性的复杂疾病和7对药物-基因对的在线遗传风险报告，并可申请免费的电话遗传咨询（GC）。为了探究接受PGx检测结果的个体的需求，我们对2009年3月至2017年2月期间申请咨询的CPMC参与者的咨询情况进行了回顾性定性分析。在总共690次GC咨询中，有80次（12%）聚焦于PGx检测结果的讨论，并出现了六个突出主题：“一般帮助”、“药物问题”、“相关疾病经历”、“我现在该怎么做？”、“分享结果”以及“其他药物”。报告的有相应PGx检测结果的药物数量和参与者的参与度与PGx GC咨询请求显著相关（分别<0.01和<0.02）。我们的研究表明，接受PGx检测结果的研究参与者提出了一系列问题，其中大多数问题由遗传咨询师解决，只有少数问题需要转介给开处方的医生或药剂师。这些结果进一步支持了遗传咨询师在基于团队的方法中为优化PGx检测结果传达所发挥的作用。
