By Elana Gotkine HealthDay ReporterTHURSDAY, Oct. 26, 2023 -- Implementation of a digital risk assessment tool can identify patients with high-risk cancer susceptibility syndromes, according to a study presented at the annual meeting of the American College of Gastroenterology, held from Oct. 20 to 25 in Vancouver, Canada.Heather Hampel, from the City of Hope National Medical Center in Duarte, California, and colleagues examined implementation of a digital cancer risk assessment tool and genetic testing program in gastroenterology practices.

根据美国胃肠病学会年会上提出的一项研究，由Elana Gotkine HealthDay ReporterTHURSDAY于2023年10月26日发布-数字风险评估工具的实施可以识别患有高风险癌症易感综合征的患者。10月20日至25日在加拿大温哥华。希瑟·汉佩尔，来自杜阿尔特希望之城国家医疗中心，加利福尼亚州及其同事研究了胃肠病学实践中数字癌症风险评估工具和基因检测计划的实施情况。

Seven practices of 17 gastrointestinal providers implemented the service between September 2021 and May 2023.Overall, 5,830 of 9,340 assessment invitations were completed out of 25,349 patient appointments. The researchers found that 25.2 percent of the invitations completed met the National Comprehensive Cancer Network criteria for genetic counseling and testing; 27.4 percent had genetic testing ordered and 74.9 percent completed testing.

17个胃肠服务提供者的7个实践在2021年9月至2023年5月期间实施了该服务。总体而言，在25349个患者预约中完成了9340个评估邀请中的5830个。研究人员发现，完成的邀请中有25.2%符合国家综合癌症网络的遗传咨询和测试标准；27.4%已订购基因检测，74.9%已完成检测。

Overall, 15.6 percent of those tested were found to have 49 pathogenic/likely pathogenic variants (P/LPVs) in a cancer susceptibility gene, while 23.5 and 61.3 percent had variants of uncertain significance and tested negative, respectively. Twelve individuals were diagnosed with high-risk cancer susceptibility syndromes: seven, four, and one with Lynch syndrome, hereditary breast-ovarian cancer syndrome, and Li Fraumeni syndrome, respectively.

总体而言，发现15.6%的受试者在癌症易感基因中具有49个致病/可能致病的变体（P/LPV），而23.5%和61.3%的变体分别具有不确定的显着性和阴性。十二个人被诊断出患有高风险的癌症易感综合症：分别有七个，四个和一个患有Lynch综合症，遗传性乳腺卵巢癌综合症和Li-Fraumeni综合症。

Thirteen individuals had P/LPVs in moderate-risk genes; 24 individuals carried autosomal recessive disorders that did not affect their cancer risk but were important for reproductive risk counseling.'Patients should possess awareness and knowledge regarding hereditary genetic cancer predispositions, as well as the significance of undergoing suitable geneti.

13个人的中度风险基因具有P/LPV；24个人患有常染色体隐性遗传疾病，不会影响他们的癌症风险，但对生殖风险咨询很重要患者应具备有关遗传性遗传性癌症易感性的认识和知识，以及接受合适基因的重要性。