Physician interpretation of genomic test results and treatment selection.
Physician interpretation of genomic test results and treatment selection.
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DOI：
10.1002/cncr.31112
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发表时间：
2018-03-01
期刊：
影响因子：
6.2
通讯作者：
Meric-Bernstam F
中科院分区：
文献类型：
--
作者：
Brusco LL;Wathoo C;Mills Shaw KR;Holla VR;Bailey AM;Johnson AM;Khotskaya YB;Litzenburger BC;Sanchez NS;Zeng J;Bernstam EV;Eng C;Kee BK;Amaria RN;Routbort MJ;Mills GB;Mendelsohn J;Meric-Bernstam F
基因组检测越来越多地在肿瘤学中进行，但临床医生解释结果的能力仍然令人担忧。我们试图确定医生和来自德克萨斯大学MD安德森精确肿瘤学决策支持（PODS）团队的基因组注释者之间关于检测结果的可操作性和临床利用的一致性。在一项前瞻性方案中，患者接受了46或50个基因热点突变的临床基因组检测（Ampli-Seq Cancer Panel; ThermoFisher）。测序后6个月，医生收到了可操作基因变异患者的问卷，调查他们对改变的可操作性和这些发现的临床应用的看法。基因组注释者独立地将这些变体分类为：可操作的、潜在可操作的、未知的或不可操作的。医生完成了288份问卷中的250份（87%的应答率）。医生认为168/250例患者（67%）有可采取行动的改变; 165/168例（98%）被认为是PODS可采取行动的; 3例意义不明。医生了解119例（71%）患者的基因型匹配治疗; 48/119例（40%）患者接受了匹配治疗。46%（36/79）的医生认为改变不可采取行动的患者被PODS分类为具有可采取行动/潜在可采取行动的突变。然而，由于试验/治疗有限，其中许多仅在理论上可行（例如，KRAS）。医生们知道在“热点”面板上可操作基因的复发性突变。随着使用更大的基因组面板，可能越来越需要注释可操作性。决策支持，以提高对基因组相关试验和复发性突变的新治疗方案的认识（例如，KRAS）也是必需的。
Genomic testing is increasingly performed in oncology, but concerns remain regarding clinician’s ability to interpret results. We sought to determine the agreement between physicians and genomic annotators from the University of Texas MD Anderson Precision Oncology Decision Support (PODS) Team regarding actionability and the clinical utilization of test results. On a prospective protocol, patients underwent clinical genomic testing for hotspot mutations in 46 or 50 genes (Ampli-Seq Cancer Panel; ThermoFisher). Six months after sequencing, physicians received questionnaires for patients with a variant in an actionable gene, investigating their perceptions regarding actionability of alterations and clinical utilization of these findings. Genomic annotators independently classified these variants as: actionable, potentially actionable, unknown or not actionable. Physicians completed 250 of 288 questionnaires (87% response rate). Physicians considered 168/250 patients (67%) as having an actionable alteration; 165/168 (98%) were considered actionable by PODS; three were of unknown significance. Physicians were aware of genotype-matched therapy available for 119 (71%); 48/119 (40%) received matched therapy. 46% (36/79) of patients in whom physicians regarded alterations as not actionable were classified as having an actionable/potentially actionable mutation by PODS. However, many of these were only theoretically actionable due to limited trials/therapies (e.g., KRAS). Physicians are aware of recurrent mutations in actionable genes on “hot spot” panels. As larger genomic panels are used, there may be growing need for annotation of actionability. Decision support to increase awareness of genomically-relevant trials and novel treatment options for recurrent mutations (e.g., KRAS) are also needed.
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影响因子：
3.7
作者：
Garrido-Laguna I;Hong DS;Janku F;Nguyen LM;Falchook GS;Fu S;Wheler JJ;Luthra R;Naing A;Wang X;Kurzrock R
通讯作者：
Kurzrock R
影响因子：
4.1
作者：
Singh, Rajesh R.;Patel, Keyur P.;Luthra, Rajyalakshmi
通讯作者：
Luthra, Rajyalakshmi
影响因子：
120.7
作者：
Kris, Mark G.;Johnson, Bruce E.;Berry, Lynne D.;Kwiatkowski, David J.;Iafrate, A. John;Wistuba, Ignacio I.;Varella-Garcia, Marileila;Franklin, Wilbur A.;Aronson, Samuel L.;Su, Pei-Fang;Shyr, Yu;Camidge, D. Ross;Sequist, Lecia V.;Glisson, Bonnie S.;Khuri, Fadlo R.;Garon, Edward B.;Pao, William;Rudin, Charles;Schiller, Joan;Haura, Eric B.;Socinski, Mark;Shirai, Keisuke;Chen, Heidi;Giaccone, Giuseppe;Ladanyi, Marc;Kugler, Kelly;Minna, John D.;Bunn, Paul A.
通讯作者：
Bunn, Paul A.
影响因子：
7.4
作者：
Johnson A;Zeng J;Bailey AM;Holla V;Litzenburger B;Lara-Guerra H;Mills GB;Mendelsohn J;Shaw KR;Meric-Bernstam F
通讯作者：
Meric-Bernstam F
影响因子：
11.5
作者：
Kim, Geoffrey;Mckee, Amy E.;Pazdur, Richard
通讯作者：
Pazdur, Richard