Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, 26504, Greece.
Hum Genomics. 2013 Jul 8;7(1):17. doi: 10.1186/1479-7364-7-17.
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.
基因组医学旨在利用个体的基因组信息来指导临床决策过程。在后基因组时代，一系列新型分子遗传学检测方法已经出现，使得基因检测行业得以飞速发展。因此，现在相当数量的不同私人诊断检测实验室提供各种各样的基因检测服务，通常采用直接面向消费者（DTC）的商业模式，以识别常见孟德尔疾病的突变（或与之相关的突变），实现药物反应的个体化，试图确定个体罹患多种复杂（多因素）疾病的风险，甚至确定一个人的身份。最近，我们注意到私人分子遗传学检测服务提供方面出现了一种新趋势，即药房柜台出售唾液和口腔拭子采集套件（用于脱氧核糖核酸（DNA）分离）。这种情况与标准的 DTC 基因检测模式略有不同，因为药剂师是医疗保健专业人员，理应能够向他们的客户提供适当的建议。然而，与通过药房销售基因检测用 DNA 采集套件相关的营销存在一些问题，例如需要监管部门批准、涉及的医疗保健专业人员缺乏适当的遗传学教育，以及最重要的是，患者和公众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，这可能导致对哪种测试对自己的特定情况有益产生混淆。我们认为，某种形式的遗传咨询应该理想地融入并成为基因检测过程的一部分，而药剂师应该有义务接受他们所提供的基因测试的基本培训。
