Qureshi Nadeem, Wilson Brenda, Santaguida Pasqualina, Little Julian, Carroll June, Allanson Judith, Raina Parminder
Evid Rep Technol Assess (Full Rep). 2009 Aug(186):1-135.
This systematic review aimed to evaluate, within unselected populations: Question 1 (Q1) key elements of family history (FH) which usefully predict subsequent disease; Question 2 (Q2) the accuracy of reporting FH; Question 3 (Q3) the impact of FH-based risk information on the uptake of preventive interventions; Question 4 (Q4) the potential for harms associated with collecting cancer FH; Question 5 (Q5) factors that facilitate or hinder the collection of family history; and, Question 6 (Q6) future directions.
MEDLINE, EMBASE, CINAHL, Cochrane Controlled Trial Register (CCTR), and PsycINFO were searched from 1995 to March 2, 2009 inclusive.
Standard systematic review methodology was employed. Eligibility criteria varied by question, but overall, specified studies reported in English, excluded qualitative designs, and limited populations to those unselected for pre-existing risk (except for Q2). Study designs and outcomes varied by research question.
One hundred and thirty-seven publications were eligible in total for this review. Q1: Key elements of FH: Eighty-nine studies were eligible for this question of which 59 reported FH and data on subsequent or current disease in subjects. The varied definitions of positive FH were consistently associated with elevated relative risks, but their value in predicting future risk or detecting current disease was difficult to assess without considering further information on other risk factors or the available preventive interventions. Q2: Accuracy of FH Reporting. Thirty-seven studies evaluated accuracy and showed relatively high specificity and low sensitivity across all disease categories. Q3: Uptake of preventive interventions. Two studies evaluated the impact of FH-based risk and the evidence was insufficient to establish any effect on change in clinical preventive behavior or uptake of interventions. Q4: Harms of FH taking. Three studies evaluated the impact of FH-based risk information on psychological outcomes and indicated no evidence of significant harm.Q5: Factors affecting FH collection: The evidence base for addressing Q5 is heterogeneous and limited to six studies exploring the association between various factors and family history reporting, documentation and discussion.
Our review indicates: (Q1) Many FH definitions showed low discriminatory accuracy in predicting disease risk in individuals but further research is warranted; (Q2) accuracy of reporting is higher for relatives without, than those affected by, a given disease; (Q3) there is insufficient evidence to assess the effect of FH-based risk assessment on preventive behaviors; (Q4) there is limited evidence to assess whether the provision of FH-based personalized risk assessment results in adverse outcomes; (Q5) there is little evidence on factors affecting FH reporting and collection in primary care.
本系统评价旨在在未经过筛选的人群中评估：问题1（Q1）家族史（FH）中可有效预测后续疾病的关键要素；问题2（Q2）家族史报告的准确性；问题3（Q3）基于家族史的风险信息对预防性干预措施采用情况的影响；问题4（Q4）收集癌症家族史相关危害的可能性；问题5（Q5）促进或阻碍家族史收集的因素；以及问题6（Q6）未来方向。
检索了1995年至2009年3月2日（含）期间的MEDLINE、EMBASE、CINAHL、Cochrane对照试验注册库（CCTR）和PsycINFO。
采用标准的系统评价方法。纳入标准因问题而异，但总体而言，要求研究以英文发表，排除定性研究设计，且研究人群限于未因既往风险而经过筛选的人群（问题2除外）。研究设计和结局因研究问题而异。
本评价总共纳入了137篇出版物。Q1：家族史的关键要素：89项研究符合该问题的纳入标准，其中59项报告了家族史以及受试者后续或当前疾病的数据。家族史阳性的不同定义始终与相对风险升高相关，但在不考虑其他风险因素或可用预防性干预措施的更多信息的情况下，难以评估其在预测未来风险或检测当前疾病方面的价值。Q2：家族史报告的准确性。37项研究评估了准确性，结果显示在所有疾病类别中特异性相对较高而敏感性较低。Q3：预防性干预措施的采用情况。2项研究评估了基于家族史的风险的影响，证据不足以确定其对临床预防行为改变或干预措施采用情况的任何影响。Q4：家族史采集的危害。3项研究评估了基于家族史的风险信息对心理结局的影响，表明没有证据显示存在重大危害。Q5：影响家族史收集的因素：解决问题5的证据基础参差不齐，仅限于6项探索各种因素与家族史报告、记录和讨论之间关联的研究。
我们的评价表明：（Q1）许多家族史定义在预测个体疾病风险方面显示出较低的鉴别准确性，但仍需进一步研究；（Q2）对于未患特定疾病的亲属，报告的准确性高于患病亲属；（Q3）没有足够的证据评估基于家族史的风险评估对预防行为的影响；（Q4）评估基于家族史的个性化风险评估是否会导致不良结局的证据有限；（Q5）关于影响基层医疗中家族史报告和收集的因素几乎没有证据。
