Assessing family history of chronic disease in primary care: Prevalence, documentation, and appropriate screening

To assess the proportion of primary care patients who report a family history (FH) of type 2 diabetes, coronary artery disease, breast cancer, or colorectal cancer (CRC); assess concordance of FH information derived from the electronic medical record (EMR) compared with patient-completed health questionnaires; and assess whether appropriate screening was informed by risk based solely on FH.

Data from the BETTER (Building on Existing Tools to Improve Chronic Disease Prevention and Screening in Primary Care) trial were used. Patients were mailed questionnaires. Baseline FH and screening data were obtained for enrolled patients from the EMR and health questionnaires.

Ontario and Alberta.

Randomly selected patients from 8 family practices.

Agreement on FH between the EMR and questionnaire was determined; logistic regression was used to assess significant predictors of screening.

In total, 775 of 789 (98%) patients completed the health questionnaire. The mean age of participants was 52.5 years and 72% were female. A minimum of 12% of patients (range 12% to 36%) had a reported FH of 1 of 4 chronic diseases. Among patients with positive FH, the following proportions of patients had that FH recorded in the EMR compared with the questionnaire: diabetes, 24% in the EMR versus 36% on the questionnaire, κ = 0.466; coronary artery disease, 35% in the EMR versus 22% on the questionnaire, κ = 0.225; breast cancer, 21% in the EMR versus 22% on the questionnaire, κ = 0.241; and CRC, 12% in the EMR versus 14% on the questionnaire, κ = 0.510. There was moderate agreement for diabetes and CRC. The presence of FH was a significant predictor of CRC screening (odds ratio 1.9, 95% CI 1.1 to 3.1).

A moderate prevalence of FH was found for 4 conditions for which screening recommendations vary with risk based on FH. Having patients self-complete an FH was thought to be feasible; however, questions about FH accuracy and completeness from both self-report and EMR remain. Work is needed to determine how to facilitate the adoption of FH tools into practice as well as strategies linking familial risk to appropriate screening.Trial registration number ISRCTN07170460 (ISRCTN Registry).