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Genetic tests obtainable through pharmacies: the good, the bad, and the ugly

机译:通过药房可获得的基因检测:好,坏和丑

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Genomic medicine seeks to exploit an individual’s genomic information in the context of guiding the clinical decision-making process. In the post-genomic era, a range of novel molecular genetic testing methodologies have emerged, allowing the genetic testing industry to grow at a very rapid pace. As a consequence, a considerable number of different private diagnostic testing laboratories now provide a wide variety of genetic testing services, often employing a direct-to-consumer (DTC) business model to identify mutations underlying (or associated with) common Mendelian disorders, to individualize drug response, to attempt to determine an individual’s risk of a multitude of complex (multifactorial) diseases, or even to determine a person’s identity. Recently, we have noted a novel trend in the provision of private molecular genetic testing services, namely saliva and buccal swab collection kits (for deoxyribonucleic acid (DNA) isolation) being offered for sale over the counter by pharmacies. This situation is somewhat different from the standard DTC genetic testing model, since pharmacists are healthcare professionals who are supposedly qualified to give appropriate advice to their clients. There are, however, a number of issues to be addressed in relation to the marketing of DNA collection kits for genetic testing through pharmacies, namely a requirement for regulatory clearance, the comparative lack of appropriate genetics education of the healthcare professionals involved, and most importantly, the lack of awareness on the part of both the patients and the general public with respect to the potential benefits or otherwise of the various types of genetic test offered, which may result in confusion as to which test could be beneficial in their own particular case. We believe that some form of genetic counseling should ideally be integrated into, and made inseparable from, the genetic testing process, while pharmacists should be obliged to receive some basic training about the genetic tests that they offer for sale.
机译:基因组医学试图在指导临床决策过程的背景下利用个人的基因组信息。在后基因组时代,出现了一系列新颖的分子遗传学检测方法,使基因检测行业得以快速发展。结果,现在有许多不同的私人诊断测试实验室提供了广泛的基因测试服务,通常采用直接面向消费者(DTC)的业务模型来识别常见的孟德尔疾病(或与之相关)的突变,从而个性化药物反应,以尝试确定一个人患有多种复杂(多因素)疾病的风险,甚至确定一个人的身份。最近,我们注意到在提供私人分子基因检测服务方面出现了一种新趋势,即药房正在柜台上出售唾液和颊拭子收集套件(用于脱氧核糖核酸(DNA)分离)。这种情况与标准DTC基因测试模型有些不同,因为药剂师是医疗保健专业人员,据说他们有资格向客户提供适当的建议。但是,与通过药房进行基因检测的DNA采集试剂盒的销售有关,有许多问题需要解决,即需要监管许可,相对缺乏对所涉及的医疗专业人员的适当遗传学教育的要求,最重要的是,患者和公众都对所提供的各种类型的基因检测的潜在益处或其他方面缺乏认识,这可能导致混淆,哪种检测对他们自己的特殊情况可能有益。我们认为,理想情况下,某种形式的遗传咨询应整合到遗传检测过程中,并与之分离开来,而药剂师应有义务接受一些有关他们出售的遗传检测的基础培训。

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