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Clinical patient phenotyping

Because the ultimate goal is to correlate immunological and genetic profiles to clinical phenotypes, the Center is aimed at recruiting patients and collecting detailed clinical data. We use complementary mechanisms to recruit cross-sectional cohorts and longitudinal cohorts from among the ~4 million patients followed as part of routine care at Partners HealthCare (Brigham & Women’s Hospital and Massachusetts General Hospital). Clinical data are derived from detailed questionnaires administered at the time of recruitment, as well as from the longitudinal electronic medical record (EMR). Our team has substantial experience mining clinical EMR data using a sophisticated informatics infrastructure and natural language processing allowing us to leverage this unique resource.

(a) Cross-sectional cohorts. We have a large number of already existing patient registries for a range of disease and readily organize new patient recruitment through a variety of clinical practices and the living biorepository of patients consented for research studies,

Partners HealthCare Biobank. Each biobank subject has broadly consented to research on human health, linkage of samples to EMR data and survey data on lifestyle, environmental exposures, and family history, Subjects donate a blood sample from which we have access to banked DNA, whole blood, plasma and serum for genomics and immunologic studies. Further, subjects have agreed to be “called-back” for additional blood draws for functional studies. By working directly with relevant clinical practices, patient registries and the biobank we are able to obtain rapid procurement of patients and samples to test specific hypotheses about biomarkers in measured in a cross-sectional cohort of patients.

(b) Longitudinal, prospective cohorts. Our institution has a strong history of conducting research with a large number of disease-specific registries of patients. As one example, the Division of Rheumatology has the Brigham Rheumatoid Arthritis Sequential Study (BRASS), a longitudinal cohort of ~1,400 RA patients. The infrastructure for disease-specific registries allows patients to be recruited with specific phenotypes (e.g., early-onset disease, new start of immunomodulatory medications), customized clinical data collection not available in the EMR (e.g., disease-activity at the time of biospecimen collection), and customized biospecimen collection based on exposure to drugs or other interventions. These studies are conducted in close collaboration with the treating-physician, thereby creating a more personal relationship between clinical data and biological readouts. Many other registries already exist for diseases from multiple sclerosis, lupus, inflammatory bowel diseases, cardiovascular diseases, psoriasis, asthma, many cancers and others.

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