Novel Analysis Methods to Mine Immune-Mediated Phenotypes and Find Genetic Variation Within the Electronic Health Record (Roadmap for Phenotype to Genotype: Immunogenomics)

The field of immunogenomics has the opportunity for accelerated genetic discovery aided by the maturation of electronic health records (EHRs) linked to DNA biobanks. Novel analysis methods in deep phenotyping of EHR data allow the full realization of the paired and increasingly dense genetic/phenotypic information available. This enables researchers to uncover genetic risk factors for the prevention and optimal treatment of immune-mediated diseases and immune-mediated adverse drug reactions. This article reviews the background of EHRs linked to DNA biobanks, potential applications to immunogenomic discovery, and current and emerging techniques in EHR-based deep phenotyping. The field of immunogenomics has the opportunity for accelerated genetic discovery aided by the maturation of electronic health records (EHRs) linked to DNA biobanks. Novel analysis methods in deep phenotyping of EHR data allow the full realization of the paired and increasingly dense genetic/phenotypic information available. This enables researchers to uncover genetic risk factors for the prevention and optimal treatment of immune-mediated diseases and immune-mediated adverse drug reactions. This article reviews the background of EHRs linked to DNA biobanks, potential applications to immunogenomic discovery, and current and emerging techniques in EHR-based deep phenotyping. Precision Medicine in Allergy and Immunology Through the Lens of ImmunogenomicsThe Journal of Allergy and Clinical Immunology: In PracticeVol. 10Issue 7PreviewThis issue of The Journal of Allergy and Clinical Immunology: In Practice marks the first theme issue focused on immunogenomics and includes a rare co-publication of eight articles. Over the past 3 decades in particular, advances in immunogenomics, the study of genetic variations in immune response, have had a profound impact on the capacity to understand mechanisms of allergic and immunologic disease. This knowledge, combined with accessibility to targeted and high-throughput genetic sequencing approaches, has opened a pathway for both allergists and immunologists to predict, prevent, diagnose, and provide intelligent and personalized treatments for relevant patient populations. Full-Text PDF