Qureshi Nadeem, Wilson Brenda, Santaguida Pasqualina, Carroll June, Allanson Judith, Culebro Carolina Ruiz, Brouwers Melissa, Raina Parminder
Evid Rep Technol Assess (Full Rep). 2007 Oct(159):1-84.
This systematic review was undertaken to: (1) evaluate the accuracy of patient reporting of cancer family history, (2) identify and evaluate tools designed to capture cancer family history that are applicable to the primary care setting, and (3) identify and evaluate risk assessment tools (RATs) in promoting appropriate management of familial cancer risk in primary care settings.
MEDLINE, EMBASE, CINAHL, and Cochrane Central from 1990 to July 2007.
Standard systematic review methodology was employed. Eligibility criteria included English studies evaluating breast, colorectal, ovarian, or prostate cancers. All primary study designs were included. For family history tools (FHxTs) and RATs, studies were limited to those applicable to primary care settings. RATs were excluded if they calculated the risk of mutation only, required specialist genetics knowledge, or were stand-alone guidelines.
Reporting Accuracy: Of 19 eligible studies, 16 evaluated the accuracy of reporting family history and three on reliability. Reporting accuracy was better for relatives free of cancer (specificity) than those with cancer (sensitivity). Accuracy was better for breast and colorectal than for ovarian and prostate cancers. Family History Tools: Of 40 eligible studies, 18 FHxTs were applicable to primary care. Most collected information on more than one cancer, employed self-administered questionnaires, and favored paper-based formats to collate family information. Details collected were often focused on specific conditions and affected relatives. Eleven tools were evaluated relative to current practice and seven were not. Irrespective of study design, compared to best current practice (genetic interviews) and standard primary care practice (family history in medical records) the FHxTs performed well. Risk Assessment Tools: Of 15 eligible studies, three RATs were identified for patient use and eight for use by professionals. They were presented in a range of computer-based and paper-based formats, and preliminary evidence indicated potential efficacy, but not definitive effectiveness in practice.
Although limited in generalizability, informants reporting their cancer family history have greater accuracy for relatives free of cancer than those with cancer. Reporting accuracy may vary among different cancer types. FHxTs varied in the extent of family enquiry depending on the tool's purpose. These tools were primarily developed as an integral part of risk assessment. The few tools that were evaluated performed well against both best and standard clinical practice. A number of RATs designed for primary care settings exist, but evidence is lacking of their effectiveness in promoting recommended clinical actions.
进行本系统评价以：（1）评估患者报告癌症家族史的准确性；（2）识别并评估适用于初级保健环境的用于获取癌症家族史的工具；（3）识别并评估风险评估工具（RATs）在促进初级保健环境中对家族性癌症风险进行适当管理方面的作用。
1990年至2007年7月的MEDLINE、EMBASE、CINAHL和Cochrane Central。
采用标准的系统评价方法。纳入标准包括评估乳腺癌、结直肠癌、卵巢癌或前列腺癌的英文研究。纳入所有原始研究设计。对于家族史工具（FHxTs）和RATs，研究仅限于适用于初级保健环境的研究。如果RATs仅计算突变风险、需要专业遗传学知识或为独立指南，则将其排除。
报告准确性：在19项符合条件的研究中，16项评估了家族史报告的准确性，3项评估了可靠性。无癌症亲属的报告准确性（特异性）高于有癌症亲属的报告准确性（敏感性）。乳腺癌和结直肠癌的报告准确性高于卵巢癌和前列腺癌。家族史工具：在40项符合条件的研究中，18种FHxTs适用于初级保健。大多数工具收集了一种以上癌症的信息，采用自我管理问卷，并倾向于纸质格式来整理家族信息。收集的细节通常集中在特定疾病和受影响的亲属上。11种工具相对于当前实践进行了评估，7种未进行评估。无论研究设计如何，与当前最佳实践（基因访谈）和标准初级保健实践（病历中的家族史）相比，FHxTs表现良好。风险评估工具：在15项符合条件的研究中，确定了3种供患者使用的RATs和8种供专业人员使用的RATs。它们以一系列基于计算机和纸质的格式呈现，初步证据表明其具有潜在疗效，但在实践中尚无确切效果。
尽管普遍适用性有限，但报告癌症家族史的信息提供者对无癌症亲属的报告准确性高于有癌症亲属。不同癌症类型的报告准确性可能有所不同。FHxTs根据工具目的在家族询问程度上有所不同。这些工具主要是作为风险评估的一个组成部分而开发的。少数经过评估的工具在最佳和标准临床实践中均表现良好。存在一些为初级保健环境设计的RATs，但缺乏其在促进推荐临床行动方面有效性的证据。
