Population genealogy resource shows evidence of familial clustering for Alzheimer disease.

OBJECTIVE: To show the potential of a resource consisting of a genealogy of the US record linked to National Veterans Health Administration (VHA) patient data for investigation of the genetic contribution to health-related phenotypes, we present an analysis of familial clustering of VHA patients diagnosed with Alzheimer disease (AD). METHODS: Patients with AD were identified by the International Classification of Diseases code. The Genealogical Index of Familiality method was used to compare the average relatedness of VHA patients with AD with expected relatedness. Relative risks for AD were estimated in first- to fifth- degree relatives of patients with AD using population rates for AD. RESULTS: Evidence for significant excess relatedness and significantly elevated risks for AD in relatives was observed; multiple pedigrees with a significant excess of VHA patients with AD were identified. CONCLUSIONS: This analysis of AD shows the nascent power of the US Veterans Genealogy Resource, in early stages, to provide evidence for familial clustering of multiple phenotypes, and shows the utility of this VHA genealogic resource for future genetic studies.

Who Is Your Doctor? Analysis of Patient-Reported and EHR-Imputed Primary Care Physician.

Significant efforts have been made to improve physician-to-physician communication and care coordination during transition of care in order to reduce adverse events and readmissions. As electronic health records (EHRs) become widely available, many hospitals have implemented physician collaboration and hand-off tools to automatically send admission notifications, discharge summaries, and pending laboratory results to a patient's primary care physician (PCP). However, the effectiveness of such tools depends on a fundamental question that remains unstudied: who is the patient's PCP? Missing or outdated PCP information may become the bottleneck to effective patient-centered care coordination regardless of existing efforts on promoting interoperability among healthcare providers. In this paper, we characterized patient-reported PCPs and experimented with an imputation algorithm that automatically infers a patient's primary provider based on patient-provider encounter data. We compared the imputation results with patient-reported PCPs and suggested practical uses of our findings.

Evaluation of a New Genetic Epidemiology Resource: The Intermountain Genealogy Registry.

BACKGROUND: Many landmark genetic breakthroughs, including the recent discovery of PCSK-9 inhibitor drugs, were accomplished with substantial contributions from evaluation of pedigrees. Finding and ascertaining high-value pedigrees is not trivial and requires considerable time and cost. Here, we describe the creation of the Intermountain Genealogy Registry for use in studying the genetics of cardiovascular and other diseases. METHODS: Using publicly available pedigree records and probabilistic linkage techniques, we created a genealogy of ≈23 million records that we linked to 3.9 million patient records in the Intermountain Healthcare system. Analytical tools were developed to support this registry, including calculation of genealogical index of familiality (GIF), testing of familial coaggregation of diseases, and extraction of high-risk pedigrees. RESULTS: A total of 658,822 (16.8%) patients were linked to a genealogy pedigree record. The average age of the linked patients was 53 years, the majority (89.0%) were Caucasian, and 50.5% were male. The GIFs for the leading cardiovascular conditions of atrial fibrillation, coronary artery disease, heart failure, and myocardial infarction (MI) were all 1.2 times greater than the GIFs of matched control sets (p < 0.001). For extreme values of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, and triglycerides, the GIFs were each 1.5 times greater than those of matched control sets (p < 0.001). There was coaggregation with MI and the extreme lipid traits with the largest coaggregation being for MI and triglycerides. CONCLUSION: The Intermountain Genealogy Registry is a multifaceted resource created to provide insights into the genetic components of cardiovascular and other diseases. This registry provides the means for easy identification and ascertainment of high-risk pedigrees for discovery of genetic susceptibility variants.

Creation of a national resource with linked genealogy and phenotypic data: the Veterans Genealogy Project.

PURPOSE: Creation of a genealogy of the United States and its ancestral populations is under way. When complete, this US genealogy will be record linked to the National Veteran's Health Administration medical data representing more than 8 million US veterans. METHODS: Genealogical data are gathered from public sources, primarily the Internet. Record linking using data from relatives is accomplished to integrate multiple data sources and then to link genealogical data to the veteran's demographic data. RESULTS: This resource currently includes genealogy for more than 22 million individuals representing the Intermountain West and the East Coast. The demographic data for more than 40,000 veteran patients using Veterans Hospital Administration services in Utah and Massachusetts have already been record linked. CONCLUSION: The resource is only in its second year of creation and already represents the largest such combination of genealogy and medical data in the world. The data sources, the creation of the genealogy, record-linking methods and results, proposed genetic analyses, and future directions are discussed.