Boston University, Boston, MA, USA.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Mayo Clin Proc. 2023 Oct;98(10):1529-1543. doi: 10.1016/j.mayocp.2023.04.008. Epub 2023 Aug 24.
As patient access to laboratory testing outside the clinic grows, health care providers can expect to confront increasing questions about the utility and interpretation of consumer-initiated genetic testing for health risks. We sought to characterize the marketplace diversity of consumer-initiated germline genetic testing options. An environmental scan was conducted to identify germline genetic testing companies that offer testing for at least one diagnosable health condition and are available for purchase by consumers in the US market without a visit to one's health care provider. We limited our scope to tests available between October 1, 2019, and September 30, 2021. We characterized variability in the content and processes used by 21 companies offering 74 distinct test products that met our inclusion and exclusion criteria. A minority (8 of 21 companies) offered tests that assessed the presence of at least 1 US Centers for Disease Control and Prevention Tier 1 condition for which detection can impact an individual's clinical care and for which evidence-based guidelines for detection and management exist.
随着患者在诊所外获得实验室检测的机会增加，医疗保健提供者可能会越来越多地面临有关消费者发起的健康风险遗传检测的效用和解释的问题。我们试图描述消费者发起的种系基因检测选择的市场多样性。进行了环境扫描以确定种系基因检测公司，这些公司至少提供一种可诊断健康状况的检测，并可在没有就诊的情况下由美国市场的消费者购买。我们将研究范围限于 2019 年 10 月 1 日至 2021 年 9 月 30 日期间提供的测试。我们描述了 21 家提供 74 种符合我们纳入和排除标准的独特测试产品的公司在内容和使用流程方面的差异。少数（21 家公司中的 8 家）提供的测试评估了至少 1 种美国疾病控制与预防中心一级疾病的存在情况，这些疾病的检测可能会影响个体的临床护理，并且存在针对检测和管理的循证指南。
