医生对基因组检测结果的解读和治疗选择。
Physician interpretation of genomic test results and treatment selection.
机构信息
Sheikh Khalifa Bin Zayed Al Nahyan Institute for Personalized Cancer Therapy, The University of Texas MD Anderson Cancer Center, Houston, Texas.
Department of Gastrointestinal Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas.
出版信息
Cancer. 2018 Mar 1;124(5):966-972. doi: 10.1002/cncr.31112. Epub 2017 Nov 22.
BACKGROUND
Genomic testing is increasingly performed in oncology, but concerns remain regarding the clinician's ability to interpret results. In the current study, the authors sought to determine the agreement between physicians and genomic annotators from the Precision Oncology Decision Support (PODS) team at The University of Texas MD Anderson Cancer Center in Houston regarding actionability and the clinical use of test results.
METHODS
On a prospective protocol, patients underwent clinical genomic testing for hotspot mutations in 46 or 50 genes. Six months after sequencing, physicians received questionnaires for patients who demonstrated a variant in an actionable gene, investigating their perceptions regarding the actionability of alterations and clinical use of these findings. Genomic annotators independently classified these variants as actionable, potentially actionable, unknown, or not actionable.
RESULTS
Physicians completed 250 of 288 questionnaires (87% response rate). Physicians considered 168 of 250 patients (67%) as having an actionable alteration; of these, 165 patients (98%) were considered to have an actionable alteration by the PODS team and 3 were of unknown significance. Physicians were aware of genotype-matched therapy available for 119 patients (71%) and 48 of these 119 patients (40%) received matched therapy. Approximately 46% of patients in whom physicians regarded alterations as not actionable (36 of 79 patients) were classified as having an actionable/potentially actionable mutation by the PODS team. However, many of these were only theoretically actionable due to limited trials and/or therapies (eg, KRAS).
CONCLUSIONS
Physicians are aware of recurrent mutations in actionable genes on "hotspot" panels. As larger genomic panels are used, there may be a growing need for annotation of actionability. Decision support to increase awareness of genomically relevant trials and novel treatment options for recurrent mutations (eg, KRAS) also are needed. Cancer 2018;124:966-72. © 2017 American Cancer Society.
背景
基因组检测在肿瘤学中应用越来越广泛，但临床医生解读结果的能力仍存在问题。在本研究中，作者旨在评估休斯顿德克萨斯大学 MD 安德森癌症中心精准肿瘤学决策支持（PODS）团队的医生与基因组注释员对检测结果的临床实用性和可操作性的判断是否一致。
方法
根据前瞻性方案，患者接受 46 或 50 个基因热点突变的临床基因组检测。测序后 6 个月，对显示可操作基因变异的患者，医生接受调查问卷，调查他们对变异可操作性的看法和这些发现的临床应用。基因组注释员独立地将这些变异归类为可操作、潜在可操作、未知或不可操作。
结果
医生完成了 288 份问卷中的 250 份（87%的应答率）。医生认为 250 例患者中的 168 例（67%）存在可操作改变；其中，165 例（98%）患者被 PODS 团队认为存在可操作改变，3 例为意义不明。医生知晓 119 例患者（71%）有基因型匹配的治疗方法，其中 48 例（40%）患者接受了匹配治疗。大约 46%的医生认为改变不可操作的患者（79 例中的 36 例）被 PODS 团队归类为具有可操作/潜在可操作的突变。然而，由于试验和/或治疗方法有限（如 KRAS），其中许多仅具有理论上的可操作性。
结论
医生了解“热点”面板中可操作基因的常见突变。随着更大的基因组面板的应用，可能需要对可操作性进行注释。为了增加对基因组相关试验和新的复发性突变（如 KRAS）治疗方案的认识，也需要决策支持。癌症 2018；124：966-72。©2017 美国癌症协会。
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