College of Medicine and Health, University of Exeter, Exeter, Devon, United Kingdom.
St Leonard's Practice, Exeter, Devon, United Kingdom.
Fam Pract. 2022 Jul 19;39(4):610-615. doi: 10.1093/fampra/cmab117.
In order to integrate genomic medicine into routine patient care and stratify personal risk, it is increasingly important to record family history (FH) information in general/family practice records. This is true for classic genetic disease as well as multifactorial conditions. Research suggests that FH recording is currently inadequate.
To provide an up-to-date analysis of the frequency, quality, and accuracy of FH recording in UK general/family practice.
An exploratory study, based at St Leonard's Practice, Exeter-a suburban UK general/family practice. Selected adult patients registered for over 1 year were contacted by post and asked to complete a written FH questionnaire. The reported information was compared with the patients' electronic medical record (EMR). Each EMR was assessed for its frequency (how often information was recorded), quality (the level of detail included), and accuracy (how closely the information matched the patient report) of FH recording.
Two hundred and forty-one patients were approached, 65 (27.0%) responded and 62 (25.7%) were eligible to participate. Forty-three (69.4%) EMRs contained FH information. The most commonly recorded conditions were bowel cancer, breast cancer, diabetes, and heart disease. The mean quality score was 3.64 (out of 5). There was little negative recording. 83.2% of patient-reported FH information was inaccurately recorded or missing from the EMRs.
FH information in general/family practice records should be better prepared for the genomic era. Whilst some conditions are well recorded, there is a need for more frequent, higher quality recording with greater accuracy, especially for multifactorial conditions.
为了将基因组医学纳入常规患者护理并对个人风险进行分层,在一般/家庭实践记录中记录家族史(FH)信息变得越来越重要。这对于经典的遗传疾病和多因素疾病都是如此。研究表明,FH 记录目前还不够充分。
提供英国一般/家庭实践中 FH 记录的频率、质量和准确性的最新分析。
一项探索性研究,基于埃克塞特的圣伦纳德诊所——一家英国郊区的一般/家庭实践。通过邮寄联系了注册超过 1 年的选定成年患者,并要求他们填写一份书面 FH 问卷。报告的信息与患者的电子病历(EMR)进行了比较。对每个 EMR 的 FH 记录的频率(记录信息的频率)、质量(包括的详细程度)和准确性(信息与患者报告的吻合程度)进行了评估。
共联系了 241 名患者,其中 65 名(27.0%)做出了回应,62 名(25.7%)符合参与条件。43 份(69.4%)EMR 包含 FH 信息。最常记录的疾病是肠癌、乳腺癌、糖尿病和心脏病。平均质量得分为 3.64(满分 5 分)。几乎没有负面记录。83.2%的患者报告的 FH 信息在 EMR 中记录不准确或缺失。
一般/家庭实践记录中的 FH 信息应为基因组时代做好更好的准备。虽然有些疾病记录得很好,但需要更频繁、更高质量的记录,并且准确性更高,尤其是对于多因素疾病。