Family history recording in UK general practice: the lIFeLONG study

Abstract

Background 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. Objectives To provide an up-to-date analysis of the frequency, quality, and accuracy of FH recording in UK general/family practice. Methods 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. Results 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. Conclusion 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.

‘I think we just do it once and leave it …’ The collection and utility of family health history in general practice in Aotearoa New Zealand: a qualitative study

“…Health system constraints such as limited consultation time and limitation of information technology (specifically PMS) and EHRs are consistently, and universally, reported as the main barriers to the ascertainment of family health history information. 18,19 Another barrier identified in our study is that GPs perceive that the information provided by some patients is vague and unreliable, also echoing findings from overseas. 17,20,21 However, there is growing evidence that patient knowledge might be more accurate than perceived, especially for some conditions such as breast cancer.…”

Recent advances in polygenic scores: translation, equitability, methods and FAIR tools

“…PGS have the potential for clinical utility as they measure aspects of disease risk that are independent of or precede traditional risk factors [ 6 ] recent studies have expanded the evidence in this area. Genetic predisposition to disease can be partially captured by family history; however, family history is a composite variable that captures both shared environment and genetic similarity that is often incomplete and poorly captured [ 23 ]. As such, PGS has been shown to add information beyond family history in phenotype prediction for a child based on the average of their parents (mid-parent) for traits like height [ 24 , 25 ] and risk of common diseases [ 24 , 26 ].…”