Agenzie di Tutela della Salute dell'Insubria, Varese, Italy.
Unit of Pathology, Ospedale di Circolo, ASST-Sette Laghi, Varese, Italy.
Fam Pract. 2020 Feb 19;37(1):43-48. doi: 10.1093/fampra/cmz045.
The hereditary cancer syndromes represent overall <10% of all cancers. These syndromes are not irrelevant for public health because all the cancers typical of these syndromes affected young people and many members of the same family and the cancers are more aggressive than the sporadic ones and need specific surgery and medical therapy. We developed a new family assessment tool: STELO designed for family physicians to identify patients could benefit from Cancer Genetic Counselling.
Test the sensitivity and specificity of a new assessment tool for the correct identification of inherited cancer syndromes.
Retrospectively we tested the new tool on a subset of patients who had already undergone genetic counselling at the Cancer Genetic Counselling Service of ASST (Azienda Socio Sanitaria Territoriale) Settelaghi Varese, to investigate sensitivity, specificity and applicability of this new tool in routine genetic screening. STELO responses were matched against the opinion of two cancer geneticists (i.e. gold standard) who blinded each other decided if the history of these patients was properly suspected as a hereditary cancer syndrome.
The Genetic Counselling Service followed 546 subjects from 2014 to 2015. STELO tool was tested retrospectively on these clinical records and resulted positive in 418 cases, out of 546 (76.5%). STELO reported, towards the gold standard, 88.5% and 52.3% of sensitivity and specificity, respectively.
STELO has demonstrated to have a good sensitivity. The specificity was expectedly low given that STELO has been developed for general medicine, so it needs to be simple, practical, of rapid consultation and effectively used in clinical practice.
遗传性癌症综合征占所有癌症的比例不到 10%。这些综合征与公众健康密切相关，因为这些综合征中所有的癌症都发生在年轻人身上，而且很多是家族性的，其恶性程度更高，需要特定的手术和药物治疗。我们开发了一种新的家庭评估工具：STELo，旨在帮助家庭医生识别可能受益于癌症遗传咨询的患者。
测试一种新的评估工具在正确识别遗传性癌症综合征方面的敏感性和特异性。
我们回顾性地对已经在 ASST（Azienda Socio Sanitaria Territoriale）Settelaghi Varese 癌症遗传咨询服务处接受过遗传咨询的患者子集进行了新工具的测试，以调查该新工具在常规遗传筛查中的敏感性、特异性和适用性。STELo 的回答与两位癌症遗传学家（即金标准）的意见相匹配，他们相互隐瞒，决定这些患者的病史是否被正确怀疑为遗传性癌症综合征。
遗传咨询服务从 2014 年到 2015 年共随访了 546 名患者。STELo 工具在这些临床记录上进行了回顾性测试，结果在 546 例中阳性 418 例（76.5%）。STELo 向金标准报告的敏感性和特异性分别为 88.5%和 52.3%。
STELo 具有良好的敏感性。特异性预期较低，因为 STELo 是为一般医学开发的，所以它需要简单、实用、快速咨询，并能在临床实践中有效使用。
