Family history recording in UK general practice: the lIFeLONG study

Lay Summary Taking a family history (FH) of disease can be a quick, cost-effective way of gathering genetic information. Genetic medicine is beginning to transform healthcare, so it is important to gather FH information. General practitioners, also known as family physicians, are in the best position to gather FH information as they regularly see multiple family members. Research suggests that FH recording in general/family practice is not yet good enough. This study aimed to find the areas for improvement by measuring the frequency, quality, and accuracy of FH recording. This study looked at 62 patients' records in one UK general practice. Patients were asked to give up-to-date FH information in a questionnaire which was compared with their record. The study found that some conditions were often recorded. The most commonly recorded condition was heart disease. The conditions that are more likely to reflect the family environment, such as depression, were less frequently recorded. Recordings often included the side of the family the condition affected. Recordings rarely included the age that the relative was affected. The information was not very accurate, as most of the information from patient questionnaires was missing from the records. Research should now focus on how to improve recording. 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.

Automated summary

Taking a family history is an effective way of gathering genetic information, but the current recording of family history in general practice is inadequate. This study measured the frequency, quality, and accuracy of family history recording and found areas for improvement. While some conditions are well recorded, there is a need for more frequent, higher quality, and more accurate recording, especially for multifactorial conditions.