The MURDOCK Study: Self-reported and EHR-derived Phenotypes Supporting Biomarker Discovery Douglas Wixted1, Meredith L. Nahm1, Michelle Smerek1, Anita Walden1, Jessica Tenenbaum1, Ashley Dunham1, Carl F. Pieper2, Melissa Cornish1, Victoria Christian1, Rowena Dolor3, L. Kristin Newby3, Robert M. Califf1 1Duke Translational Medicine Institute, 2Duke Department of Biostatistics and Bioinformatics, 3Duke Clinical Research Institute “Rewriting the textbook of medicine” Background The MURDOCK Community Registry and Biorepository (“the Registry”) is a key component of the MURDOCK Study, an ongoing initiative to reclassify disease based on underlying molecular mechanism. Based in Cabarrus County, NC, the Registry aims to enroll 50,000 participants (~9,000 to date) from the catchment area depicted in Figure 1. The Registry will generate a large sample size of well-annotated biospecimens (blood and urine) paired with environmental, demographic and clinical characteristics. Participation entails self-reported information, annual follow-up, access to electronic health records, and permission to re-contact. This valuable data resource is available for translational research collaborations. Multi-source Phenotype Identification Substantial effort has been made by research initiatives such as eMERGE, SHARPn, and Mini-Sentinel to develop validated and portable algorithms to transform raw EHR data into phenotypes. MURDOCK will collaborate with and leverage related efforts, however, MURDOCK diverges from these efforts in key aspects of both input and goals: Incomplete EHR data integrated from multiple source systems add additional complexity. “Complete” EHR data may not be necessary for the purpose of corroborating self-reported data. A pilot study is being conducted to compare sources and methods to identify and analyze discrepancies. Contact Information Douglas Wixted, MMCI douglas.wixted@duke.edu 919-668-0503 Jessica Tenenbaum, PhD jessie.tenenbaum@duke.edu 919-668-8811 Acknowledgements The MURDOCK Study is funded by the David H. Murdock Institute for Business and Culture and the Duke CTSA grant (UL1RR024128). Authorship represents MURDOCK Community Registry and Biorepository informatics and study leadership. Table 1: Self-reported medical history is focused on 34 diseases and medical conditions . Figure 4: Common disease prevalence to date based on self- report (N = 9112). Data Collection At enrollment, participants provide self-reported medical history, quality of life measures, socioeconomic information, lifestyle and nutrition via a questionnaire. Updated medical information is collected thereafter through annual follow-up questionnaires and consented access to participants’ electronic health records (EHRs). Self-reported baseline and annually updated medical history focus on the 34 medical conditions depicted in Table 1. EHR data are procured through partnership with local healthcare provider organizations. Phenotypes or clinical characteristics to complement genomic analyses can leverage data from both sources. Clinical variables derived both from participant self-reporting and EHRs represents a significant advantage since the quality of individual sources can vary widely. The authors invite interested investigators to take full advantage of this rich resource by contacting the MURDOCK Study team (murdock-study@duke.edu) to explore opportunities for collaboration. Disclosure Information Authors listed here have nothing to disclose concerning possible financial or personal relationships with commercial entities that may have a direct or indirect interest in the subject matter of this presentation. For more information on the MURDOCK Study, please visit us online: www.murdock-study.com Figure 2: Clinical variables can be based on 1) self-report, 2) self-report supported by EHR data, and/or 3) phenotype algorithms. A pilot study will compare data sources and methods. Figure 1: The MURDOCK Study catchment area.