Evaluation and comparison of hereditary Cancer guidelines in the population.

IF 2 4区 医学 Q3 ONCOLOGY Hereditary Cancer in Clinical Practice Pub Date : 2021-07-17 DOI:10.1186/s13053-021-00188-9
Jordon B Ritchie, Cecelia Bellcross, Caitlin G Allen, Lewis Frey, Heath Morrison, Joshua D Schiffman, Brandon M Welch
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Abstract

Background: Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement across guidelines, and how well they identify patients who should consider a cancer genetic consultation.

Methods: We compare the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Networks (NCCN) (2019) CPG criteria for FHx collected by a chatbot and evaluated by ontologies and web services in a previous study. Collected FHx met criteria from seven groups: Gene Mutation, Breast and Ovarian, Li-Fraumeni syndrome (LFS), Colorectal and Endometrial, Relative Meets Criteria, ACMG Only Criteria, and NCCN Testing. CPG Criteria were coded and matched across 12 ACMG sub-guidelines and 6 NCCN sub-guidelines for comparison purposes.

Results: The dataset contains 4915 records, of which 2221 met either ACMG or NCCN criteria and 2694 did not. There was significant overlap-1179 probands met both ACMG and NCCN criteria. The greatest similarities were for Gene Mutation and Breast and Ovarian criteria and the greatest disparity existed among Colorectal and Endometrial criteria. Only 156 positive gene mutations were reported and of the 2694 probands who did not meet criteria, 90.6% of them reported at least one cancer in their personal or family cancer history.

Conclusion: Hereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk.

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评估和比较人群中的遗传性癌症指南。
背景:家族健康史(FHx)是识别遗传性癌症风险患者的有效工具。遗传性癌症临床实践指南(CPG)包含用于评估家族健康史和提出遗传咨询建议的标准。比较用于评估一组常见遗传性心脏病的不同 CPG,可以深入了解 CPG 的性能如何、各指南之间的一致程度,以及它们在确定应考虑进行癌症遗传咨询的患者方面的效果如何:我们比较了美国医学遗传学和基因组学学会(ACMG)和美国国家综合癌症网络(NCCN)(2019 年)CPG 的 FHx 标准,这些标准由聊天机器人收集,并在之前的研究中通过本体论和网络服务进行了评估。收集的 FHx 符合七个组的标准:基因突变、乳腺和卵巢、Li-Fraumeni 综合征 (LFS)、结直肠和子宫内膜、相对符合标准、ACMG 唯一标准和 NCCN 检测。为便于比较,对 CPG 标准进行了编码,并在 12 个 ACMG 子指南和 6 个 NCCN 子指南之间进行了匹配:数据集包含 4915 条记录,其中 2221 条符合 ACMG 或 NCCN 标准,2694 条不符合。其中有 1179 个探查者同时符合 ACMG 和 NCCN 标准,存在明显重叠。基因突变与乳腺癌和卵巢癌标准的相似度最高,而结肠直肠癌和子宫内膜癌标准的差异最大。仅报告了 156 例阳性基因突变,而在不符合标准的 2694 例原发性患者中,90.6% 的人报告其个人或家族癌症史中至少有一种癌症:结论:遗传性癌症 CPGs 对于根据 FHx 确定有患癌症风险的患者非常有用。这一比较表明,借助聊天机器人、本体和网络服务,CPG 可以更有效地用于识别有遗传性癌症风险的患者。此外,该比较还研究了 ACMG 和 NCCN 之间的异同,并说明了在评估遗传性癌症风险时使用这两种指南的重要性。
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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
期刊最新文献
BRCA2 germline mutation carrier with five malignancies: a case report. A genome-wide association study in Swedish colorectal cancer patients with gastric- and prostate cancer in relatives. Breast cancer and ATM mutations: treatment implications. Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2023". Validation of a guidelines-based digital tool to assess the need for germline cancer genetic testing.
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