Abstract
Background/Aims Family relationship data in the Scott & White Virtual Data Warehouse (VDW) gathered from multiple sources across the institution is a rich resource that provides an opportunity to study patterns of inherited disease and the ability to evaluate the efficacy of targeted screening strategies. In an integrated healthcare delivery system, linkage of the parent and child (family) electronic health records (EHR) provides an opportunity to improve outcomes by implementing proactive/preventative screening and/ or treatment in offspring. Our study focuses on how linkage of the parent/ child EHR can be used to identifying youth at risk for a number of autosomal dominant inherited diseases.
Methods The comprehensive procedure developed at Scott & White includes gathering relationship information from members at time of enrollment with the Scott & White Health Plan (SWHP). Relationship codes provide the linkage between the family enrollment records and medical data. The relationships are identified by insurance subscribers and covered dependents from SWHP data, and by guarantor and covered dependents from EHR data. This field is then matched against ICD-9 codes for a wide variety of inherited diseases to generate a list of parent-child pairs that can be used to implement early focused screening strategies.
Results We were able to evaluate how often offspring were screened for a number of autosomal dominant diseases including familial hypercholesterolemia, hypertrophic obstructive cardiomyopathy, and long QT as well as a number of other inherited diseases. The major problem with this approach is that biological linkage cannot be established (i.e., adoption or step-parent, grandparent may be insured adult). However, this approach provides an opportunity to create flags in the EHR for a first- pass screening that can be enhanced by extraction of additional information (i.e., biological linkage) obtained by a provider during a point-of-care service.
Discussion An integrated healthcare delivery system combined with a family-linkage field in the VDW provides an opportunity to improve outcomes for inherited diseases through focused screening potentially involving the use of flags for the healthcare provider. Implementation of early, targeted screenings may improve long-term health outcomes and potentially provide a cost-effective strategy for preventive healthcare.
