Morash Margaret, Mitchell Hannah, Beltran Himisha, Elemento Olivier, Pathak Jyotishman
Division of Health Informatics, Department of Healthcare Policy and Research, Weill Cornell Medicine, New York, NY 10065, USA.
Division of Medical Oncology, Weill Cornell Medicine and New York-Presbyterian Hospital, New York, NY 10065, USA.
J Pers Med. 2018 Sep 17;8(3):30. doi: 10.3390/jpm8030030.
Precision medicine seeks to use genomic data to help provide the right treatment to the right patient at the right time. Next-generation sequencing technology allows for the rapid and accurate sequencing of many genes at once. This technology is becoming more common in oncology, though the clinical benefit of incorporating it into precision medicine strategies remains under significant debate. In this manuscript, we discuss the early findings of the impact of next-generation sequencing on cancer patient outcomes. We investigate why not all patients with genomic variants linked to a specific therapy receive that therapy and describe current barriers. Finally, we explore the current state of health insurance coverage for individual genome sequencing and targeted therapies for cancer. Based on our analysis, we recommend increased transparency around the determination of "actionable mutations" and a heightened focus on investigating the variations in health insurance coverage across patients receiving sequencing-matched therapies.
精准医学旨在利用基因组数据，以便在恰当的时间为恰当的患者提供恰当的治疗。新一代测序技术能够一次性对多个基因进行快速且准确的测序。这项技术在肿瘤学领域正变得越来越普遍，不过将其纳入精准医学策略的临床益处仍存在重大争议。在本手稿中，我们讨论了新一代测序对癌症患者预后影响的早期发现。我们探究为何并非所有具有与特定疗法相关的基因组变异的患者都接受该疗法，并描述当前存在的障碍。最后，我们探讨了针对个体基因组测序和癌症靶向治疗的医疗保险覆盖现状。基于我们的分析，我们建议在“可操作突变”的判定方面提高透明度，并更加关注调查接受测序匹配疗法的患者之间医疗保险覆盖情况的差异。
