Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA.
Genomic Medicine Institute Geisinger Health System, Danville, Pennsylvania, USA.
Genet Med. 2018 Apr;20(4):390-396. doi: 10.1038/gim.2017.122. Epub 2017 Aug 10.
Genomic technologies should demonstrate analytical and clinical validity and clinical utility prior to wider adoption in clinical practice. However, the question of clinical utility remains unanswered for many genomic technologies. In this paper, we propose three building blocks for rapid generation of evidence on clinical utility of promising genomic technologies that underpin clinical and policy decisions. We define promising genomic tests as those that have proven analytical and clinical validity. First, risk-sharing agreements could be implemented between payers and manufacturers to enable temporary coverage that would help incorporate promising technologies into routine clinical care. Second, existing data networks, such as the Sentinel Initiative and the National Patient-Centered Clinical Research Network (PCORnet) could be leveraged, augmented with genomic information to track the use of genomic technologies and monitor clinical outcomes in millions of people. Third, endorsement and engagement from key stakeholders will be needed to establish this collaborative model for rapid evidence generation; all stakeholders will benefit from better information regarding the clinical utility of these technologies. This collaborative model can create a multipurpose and reusable national resource that generates knowledge from data gathered as part of routine care to drive evidence-based clinical practice and health system changes.
基因组技术在更广泛地应用于临床实践之前，应该证明其分析和临床有效性和临床实用性。然而，许多基因组技术的临床实用性问题仍未得到解答。在本文中，我们提出了三个构建模块，用于快速生成有前途的基因组技术临床实用性的证据，这些技术为临床和决策提供支持。我们将有前途的基因检测定义为那些已经证明具有分析和临床有效性的检测。首先，可以在支付方和制造商之间实施风险分担协议，以实现临时覆盖，从而帮助将有前途的技术纳入常规临床护理。其次，可以利用现有的数据网络，如 Sentinel 倡议和国家以患者为中心的临床研究网络（PCORnet），并利用基因组信息对其进行扩充，以跟踪基因组技术的使用情况，并监测数百万人的临床结果。第三，需要关键利益相关者的认可和参与，以建立这种快速生成证据的合作模式；所有利益相关者都将从这些技术的临床实用性的相关信息中受益。这种合作模式可以创建一个多用途和可重复使用的国家资源，从常规护理中收集的数据中生成知识，以推动循证临床实践和卫生系统的变革。
