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. 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. 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. 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.

中文翻译：

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人群遗传性癌症指南的评估和比较


家族健康史 (FHx) 是识别患有遗传性癌症风险的患者的有效工具。遗传性癌症临床实践指南 (CPG) 包含用于评估 FHx 和提出遗传咨询建议的标准。通过比较用于评估一组常见 FHx 的不同 CPG，可以深入了解 CPG 的表现如何、各指南的一致性程度以及它们如何识别应考虑进行癌症遗传咨询的患者。我们比较了美国医学遗传学和基因组学学院 (ACMG) 和国家综合癌症网络 (NCCN) (2019) CPG 对 FHx 的标准，该标准由聊天机器人收集，并在之前的研究中通过本体和网络服务进行评估。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、亲属符合标准、仅 ACMG 标准和 NCCN 测试。 CPG 标准在 12 个 ACMG 子指南和 6 个 NCCN 子指南之间进行编码和匹配，以进行比较。该数据集包含 4915 条记录，其中 2221 条符合 ACMG 或 NCCN 标准，2694 条不符合。存在显着重叠——1179 名先证者同时满足 ACMG 和 NCCN 标准。基因突变以及乳房和卵巢标准最为相似，而结直肠和子宫内膜标准则存在最大差异。仅报告了 156 个阳性基因突变，在 2694 名不符合标准的先证者中，90.6% 的人报告其个人或家族癌症史中至少有一种癌症。遗传性癌症 CPG 可用于根据 FHx 识别有患癌症风险的患者。 这一比较表明，在聊天机器人、本体和网络服务的帮助下，CPG 可以更有效地应用于识别有遗传性癌症风险的患者。此外，该比较还检查了 ACMG 和 NCCN 之间的相似性和差异，并显示了在评估遗传性癌症风险时使用这两个指南的重要性。