BackgroundThe number of individuals meeting criteria for genetic counseling and testing for hereditary cancer syndromes (HCS) is far less than the number that actually receive it. To facilitate identification of patients at risk for HCS, Counsyl developed a digital identification tool (digital ID tool) to match personal and family cancer history to National Comprehensive Cancer Network (NCCN) BRCA-related Hereditary Breast and Ovarian Cancer (HBOC), Lynch syndrome, and polyposis testing criteria in one-to-one, automated fashion. The purpose of this study was to validate the ability of the digital ID tool to accurately identify histories that do and do not meet NCCN testing criteria.MethodsThird-party recorded three-generation pedigrees were retrospectively reviewed by a certified genetic counselor (CGC) to determine if independent events included in pedigree histories met NCCN guidelines, and were then sorted into groups: high risk events (meets criteria) and low risk events (does not meet criteria). Events were entered into the digital ID tool to determine the extent of its concordance with events sorted by CGC review. Statistical tests of accuracy were calculated at a 95% confidence interval (CI).ResultsOne hundred ninety-seven pedigrees were reviewed consecutively representing 765 independent events for analysis across groups. 382/382 (100%) high risk events identified by the digital ID tool and 381/383 (99.47%) low risk events identified by the digital ID tool were concordant with CGC sorting. The digital ID tool had a sensitivity of 100% (99.04–100% CI) and specificity of 99.48% (98.13–99.94% CI). The overall accuracy of the digital ID tool was estimated to be 99.74% (99.06–99.97% CI), reflecting the rate at which the digital ID tool reached the same conclusion as that of CGC review of pedigree events for the recommendation of genetic testing for individuals at risk for HCS.ConclusionsThe digital ID tool accurately matches NCCN criteria in one-to-one fashion to identify at-risk individuals for HCS and may be useful in clinical practice, specifically for BRCA-related HBOC and Lynch Syndrome.

中文翻译：

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为有遗传性癌症综合征风险的个体验证数字识别工具

背景符合遗传性癌症综合征（HCS）遗传咨询和检测标准的人数远远少于实际接受的人数。为了便于识别有 HCS 风险的患者，Counsyl 开发了一种数字识别工具（数字 ID 工具），以将个人和家族癌症史与国家综合癌症网络 (NCCN) BRCA 相关的遗传性乳腺癌和卵巢癌 (HBOC)、林奇综合征相匹配和息肉病检测标准以一对一的自动化方式进行。本研究的目的是验证数字 ID 工具准确识别符合和不符合 NCCN 测试标准的历史记录的能力。方法 第三方记录的三代谱系由认证遗传顾问（CGC）回顾性审查，以确定谱系历史中包含的独立事件是否符合 NCCN 指南，然后分为高风险事件（符合标准）和低风险事件组（不符合标准）。事件被输入数字 ID 工具，以确定其与 CGC 审查排序的事件的一致性程度。以 95% 置信区间 (CI) 计算准确度的统计检验。结果连续审查了 197 个谱系，代表 765 个独立事件进行跨组分析。数字 ID 工具识别的 382/382 (100%) 个高风险事件和数字 ID 工具识别的 381/383 (99.47%) 个低风险事件与 CGC 排序一致。数字 ID 工具的灵敏度为 100% (99.04–100% CI)，特异性为 99.48% (98.13–99.94% CI)。数字 ID 工具的总体准确率估计为 99.74% (99.06–99.97% CI)，反映了数字 ID 工具得出与 CGC 对谱系事件进行审查以推荐基因检测的结论相同的比率有 HCS 风险的个人。结论数字 ID 工具以一对一的方式准确匹配 NCCN 标准，以识别有 HCS 风险的个人，并且可能在临床实践中有用，特别是对于 BRCA 相关的 HBOC 和 Lynch 综合征。