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Professional Perspectives About Pharmacogenetic Testing and Managing Ancillary Findings

机译:有关药物遗传学测试和管理辅助结果的专业观点

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摘要

Aims: Pharmacogenetic (PGx) tests, intended to inform therapeutic decision making through prediction of patient likelihood to respond to or experience an adverse effect from a specific treatment, may also generate ancillary, or incidental, disease information unrelated to the purpose for which the test was ordered. To assess attitudes toward PGx testing, ancillary disease risk information, and related clinical issues, we conducted a series of focus groups among health professionals. Results: Twenty-one primary care and genetics professionals from Durham, NC, were recruited to participate in three focus groups (two of primary care professionals [PCPs] and one of geneticists). Overall, interest in PGx testing was positive, though enthusiasm was reserved among PCPs due to concerns about clinical utility, insurance coverage, delay of treatment, and ability to communicate and interpret ancillary disease risk information. Although many PCPs felt an obligation to disclose information about ancillary disease risk, geneticists did not believe that it was always necessary, noting the complexities of genetic risk results such as incomplete penetrance. Conclusion: This pilot study found that health professionals' interest in the use of PGx testing was limited by concerns about the lack of evidence of clinical utility and their ability to interpret and communicate ancillary disease risk information to patients. Additional educational resources, access to genetic specialists, and clear clinical guidelines about the use of PGx testing would greatly facilitate appropriate use of testing.
机译:目的:药物遗传学(PGx)测试旨在通过​​预测患者对特定治疗的反应或遭受不良反应的可能性来为治疗决策提供依据,也可能会产生与该测试目的无关的辅助或偶然疾病信息被命令。为了评估对PGx测试,辅助疾病风险信息以及相关临床问题的态度,我们在卫生专业人员中进行了一系列焦点小组讨论。结果:招募了来自北卡罗来纳州达勒姆市的21名初级保健和遗传学专业人员参加了三个焦点小组(两名初级保健专业人员[PCP]和一名遗传学家)。总体而言,尽管出于对临床效用,保险范围,治疗延误以及传达和解释辅助疾病风险信息的能力的担忧,PCP对此保持了热情,但对PGx测试的兴趣是积极的。尽管许多PCP认为有义务公开有关辅助疾病风险的信息,但遗传学家并不认为这总是必要的,因为遗传风险结果的复杂性,例如不完全的外显率。结论:这项初步研究发现,由于缺乏临床效用证据以及他们无法向患者解释和传达辅助疾病风险信息的能力,健康专业人员对PGx检测的兴趣受到了限制。额外的教育资源,与遗传专家的联系以及有关PGx检测使用的明确临床指南将极大地促进适当使用检测。

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