U.O. Diagnostica Ematochimica, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy.
Int J Clin Pract. 2011 Dec;65(12):1221-9. doi: 10.1111/j.1742-1241.2011.02774.x.
As a result of incessant genetic discoveries and remarkable technological advancements, the availability and the consequent consumer's request for genetic testing are growing exponentially, leading to the development of a 'parallel' market, i.e. the direct-to-consumer (DTC) testing, also known as 'direct access testing' (DAT). Analogous to the traditional laboratory diagnostics, drawbacks of DTC testing might arise from any step characterising the total testing process, and include poor control of both appropriateness and preanalytical requirements, potential operation outside national or international regulation for in vitro diagnostic testing, little evidence of quality as well as the risk of transfer of genetic materials from the companies to other entities. Another important issue is the test panels offered to consumers, which are often based on preliminary, speculative or unsupported scientific information. Finally, the potential of this type of testing to generate anxiety or false reassurance should also be carefully considered. Although DTC testing carries some theoretical advantages (e.g. greater consumer autonomy and empowerment), solid clinical studies and costs vs. benefit analyses are needed to definitely establish whether DTC testing might be effective for decreasing the burden of diseases, delay their onset or modify their progression and therefore the clinical outcome.
由于不断的基因发现和显著的技术进步，遗传检测的可用性和消费者的需求呈指数级增长，导致了“平行”市场的发展，即直接面向消费者（DTC）检测，也称为“直接访问检测”（DAT）。与传统的实验室诊断类似，DTC 检测的缺陷可能来自于总检测过程的任何一个步骤，包括对适宜性和分析前要求的控制不足、潜在的体外诊断检测超出国家或国际法规的操作、质量证据不足以及遗传物质从公司转移到其他实体的风险。另一个重要问题是向消费者提供的测试面板，这些面板通常基于初步的、推测性的或未经证实的科学信息。最后，还需要仔细考虑这种测试产生焦虑或虚假保证的可能性。虽然 DTC 检测具有一些理论优势（例如更大的消费者自主权和赋权），但需要进行扎实的临床研究和成本效益分析，以确定 DTC 检测是否可能有效减轻疾病负担、延迟其发病或改变其进展，从而改善临床结果。
