Johnson Liza-Marie, Valdez Jessica M, Quinn Emily A, Sykes April D, McGee Rose B, Nuccio Regina, Hines-Dowell Stacy J, Baker Justin N, Kesserwan Chimene, Nichols Kim E, Mandrell Belinda N
Division of Hospitalist Medicine, St. Jude Children's Research Hospital, Memphis, Tennessee.
Division of Cancer Predisposition, St. Jude Children's Research Hospital, Memphis, Tennessee.
Cancer. 2017 Jun 15;123(12):2352-2359. doi: 10.1002/cncr.30581. Epub 2017 Feb 13.
The incorporation of genomic testing to identify targetable somatic alterations and predisposing germline mutations into the clinical setting is becoming increasingly more common. Despite its potential usefulness, to the authors' knowledge physician confidence with regard to understanding and applying genomic testing remains unclear, particularly within the realm of pediatric oncology.
Before initiating an institutional feasibility study regarding the integration of clinical genomic testing, the authors surveyed pediatric oncologists regarding their confidence around understanding of genomic testing, perceived usefulness of test results, preferences around the disclosure of germline test results, and possible risks and benefits of testing.
Among survey respondents (52 of 88 contacted; response rate of 59%), only a minority were confident in interpreting, using, and discussing somatic (35%) or germline (27%) genomic test results. Providers who were confident in interpreting somatic results were significantly more likely to anticipate using the results to plan the treatment of patients with relapsed or refractory cancers (P = .009). Similarly, providers who reported confidence in interpreting germline results were significantly more likely to discuss and use these results as part of clinical care (P<.0001). The majority of physicians (93%), regardless of their level of confidence, wanted to speak to a genetic counselor before disclosing germline test results.
Among physicians at a comprehensive pediatric cancer center, confidence in the interpretation, use, and discussion of oncology-based genomic test results appears to be low, both in terms of somatic and germline testing. To optimize the integration of genomic sequencing into cancer care, methods must be developed to improve basic competencies around cancer-based genomic testing. Given the complexities surrounding variant interpretation and genotype-phenotype relationships, interdisciplinary collaborations are warranted. Cancer 2017;123:2352-2359. © 2017 American Cancer Society.
将基因检测纳入临床以识别可靶向的体细胞改变和易感性种系突变正变得越来越普遍。尽管其具有潜在用途,但据作者所知,医生对理解和应用基因检测的信心仍不明确,尤其是在儿科肿瘤学领域。
在启动一项关于临床基因检测整合的机构可行性研究之前,作者就儿科肿瘤学家对基因检测的理解信心、检测结果的感知有用性、种系检测结果披露的偏好以及检测的可能风险和益处进行了调查。
在调查对象中(88人中有52人回复;回复率为59%),只有少数人对解释、使用和讨论体细胞(35%)或种系(27%)基因检测结果有信心。对解释体细胞结果有信心的提供者更有可能预期使用这些结果来规划复发或难治性癌症患者的治疗(P = 0.009)。同样,报告对解释种系结果有信心的提供者更有可能将这些结果作为临床护理的一部分进行讨论和使用(P<0.0001)。大多数医生(93%),无论其信心水平如何,都希望在披露种系检测结果之前与遗传咨询师交谈。
在一家综合性儿科癌症中心的医生中,无论是体细胞检测还是种系检测,对基于肿瘤学的基因检测结果的解释、使用和讨论的信心似乎都很低。为了优化基因测序在癌症护理中的整合,必须开发方法来提高围绕基于癌症的基因检测的基本能力。鉴于围绕变异解释和基因型 - 表型关系的复杂性,跨学科合作是必要的。《癌症》2017年;123:2352 - 2359。©2017美国癌症协会。