The value of parental medical records for the prediction of diabetes and cardiovascular disease: a novel method for generating and incorporating family histories

Abstract

Objective To determine whether data-driven family histories (DDFH) derived from linked EHRs of patients and their parents can improve prediction of patients’ 10-year risk of diabetes and atherosclerotic cardiovascular disease (ASCVD). Materials and Methods A retrospective cohort study using data from Israel’s largest healthcare organization. A random sample of 200 000 subjects aged 40–60 years on the index date (January 1, 2010) was included. Subjects with insufficient history (<1 year) or insufficient follow-up (<10 years) were excluded. Two separate XGBoost models were developed—1 for diabetes and 1 for ASCVD—to predict the 10-year risk for each outcome based on data available prior to the index date of January 1, 2010. Results Overall, the study included 110 734 subject-father-mother triplets. There were 22 153 cases of diabetes (20%) and 11 715 cases of ASCVD (10.6%). The addition of parental information significantly improved prediction of diabetes risk (P < .001), but not ASCVD risk. For both outcomes, maternal medical history was more predictive than paternal medical history. A binary variable summarizing parental disease state delivered similar predictive results to the full parental EHR. Discussion The increasing availability of EHRs for multiple family generations makes DDFH possible and can assist in delivering more personalized and precise medicine to patients. Consent frameworks must be established to enable sharing of information across generations, and the results suggest that sharing the full records may not be necessary. Conclusion DDFH can address limitations of patient self-reported family history, and it improves clinical predictions for some conditions, but not for all, and particularly among younger adults.

Automated Annotation of Disease Subtypes

“…-Cardiovascular risk and Diabetes : both of these disease families have different risk factors, including environmental, genetic and genetic-environment interaction (GxE). For example, Type 1 vs Type 2 diabetes, or specific genetic risk factors [6], [15].…”

“…Clinicians primarily rely on the International Classification of Diseases (ICD) International Statistical Classification of Diseases and Related Health Problems (ICD), which undergoes periodic revisions (e.g., ICD-10 is the 10th revision) [4]. For instance, Diabetes mellitus (ICD-10, E10-E14) is partitioned into Type 1 (E10), Type 2 (E11), unspecified diabetes (E14), along with further subtypes [5], [6].…”