Abstract
Allergic diseases are highly complex with respect to pathogenesis, inflammation, and response to treatment. Current efforts for allergic disease diagnosis have focused on clinical evidence as a binary outcome. Although outcome status based on clinical phenotypes (observable characteristics) is convenient and inexpensive to measure in large studies, it does not adequately provide insight into the complex molecular determinants of allergic disease. Individuals with similar clinical diagnoses do not necessarily have similar disease etiologies, natural histories, or responses to treatment. This heterogeneity contributes to the ineffective response to treatment leading to an annual estimated cost of $350 billion in the USA alone. There has been a recent focus to deconvolute the clinical heterogeneity of allergic diseases into specific endotypes using molecular and omics approaches. Endotypes are a means to classify patients based on the underlying pathophysiological mechanisms involving distinct functions or treatment response. The advent of high-throughput molecular omics, immunophenotyping, and bioinformatics methods including machine learning algorithms is facilitating the development of endotype-based diagnosis. As we move to the next decade, we should truly start treating clinical endotypes not clinical phenotype. This review highlights current efforts taking place to improve allergic disease endotyping via molecular omics profiling, immunophenotyping, and machine learning approaches in the context of precision diagnostics in allergic diseases.
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Funding
This work was supported by the National Institutes of Health (NIH) grant R01HL132344, as well as in part by NIH R37 AI045898, U19 AI070235, R01 AI057803, R01 DK107502, P30 DK078392 (Gene and Protein Expression Core), the Campaign Urging Research for Eosinophilic Disease (CURED), and the Sunshine Charitable Foundation and its supporters, Denise and David Bunning.
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Mersha, T.B., Afanador, Y., Johansson, E. et al. Resolving Clinical Phenotypes into Endotypes in Allergy: Molecular and Omics Approaches. Clinic Rev Allerg Immunol 60, 200–219 (2021). https://doi.org/10.1007/s12016-020-08787-5
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DOI: https://doi.org/10.1007/s12016-020-08787-5