Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, 10029, USA.
Sema4, Stamford, CT, 06902, USA.
J Hum Genet. 2020 May;65(5):437-444. doi: 10.1038/s10038-020-0723-0. Epub 2020 Jan 27.
Increasing enthusiasm for clinical pharmacogenetic testing and the availability of pharmacogenetic-based guidelines indicate that pediatricians will increasingly be expected to interpret and apply pharmacogenetic test results into medical care. Previous studies have identified a lack of knowledge on pharmacogenetics across many physician specialties; however, this has not been systematically assessed among pediatricians. To evaluate pediatrician knowledge, attitude, and educational interest in pharmacogenetics, we surveyed physician cohorts from both the United States (U.S.) and Japan. A total of 282 pediatricians (210 from the U.S. and 72 from Japan) participated in an anonymous survey (online or hardcopy) on pharmacogenetics knowledge, perception, and education. Over 50% of all respondents had >10 years of clinical experience and >75% had some prior education in genetics. However, <10% felt they were familiar with pharmacogenetics, which was very consistent with <20% of the U.S. pediatricians correctly responding to a codeine/CYP2D6 pharmacogenetics knowledge question and <10% of U.S. pediatricians being aware of the Clinical Pharmacogenetics Implementation Consortium (CPIC). Despite being generally unfamiliar with pharmacogenetics, >80% of all respondents indicated that implementation of clinical pharmacogenetic testing will improve efficacy and safety, and that pediatricians should be capable of applying this testing to their practice. Moreover, the majority (83.1%) were interested in educational opportunities on pharmacogenetics, particularly on result interpretation and therapeutic recommendations. Taken together, these data indicate that although practical knowledge of pharmacogenetics among pediatricians in the U.S. and Japan is currently very low, their interest in clinical pharmacogenetics and related education is high, which will likely facilitate future implementation.
越来越多的人对临床药物遗传学检测感兴趣,并且药物遗传学指导方针也越来越多,这表明儿科医生将越来越需要解释和应用药物遗传学检测结果到医疗保健中。先前的研究已经确定了许多医师专业领域缺乏对药物遗传学的了解;然而,这并没有在儿科医生中得到系统评估。为了评估儿科医生对药物遗传学的知识、态度和教育兴趣,我们调查了来自美国和日本的医生群体。共有 282 名儿科医生(美国 210 名,日本 72 名)参与了一项关于药物遗传学知识、看法和教育的匿名调查(在线或纸质)。超过 50%的受访者有超过 10 年的临床经验,超过 75%的人接受过一些遗传学方面的教育。然而,不到 10%的人认为他们熟悉药物遗传学,这与不到 20%的美国儿科医生正确回答关于可待因/CYP2D6 药物遗传学知识问题和不到 10%的美国儿科医生了解临床药物遗传学实施联盟(CPIC)的比例非常一致。尽管普遍对药物遗传学不熟悉,但超过 80%的受访者表示,实施临床药物遗传学检测将提高疗效和安全性,儿科医生应该能够将其应用于实践。此外,大多数(83.1%)对药物遗传学教育机会感兴趣,特别是对结果解释和治疗建议。综上所述,这些数据表明,尽管美国和日本的儿科医生对药物遗传学的实际知识目前非常低,但他们对临床药物遗传学和相关教育的兴趣很高,这将很可能促进未来的实施。