Abstract
It is increasingly clear that an extraordinarily diverse range of clinically important conditions—including infections, vaccinations, autoimmune diseases, transplants, transfusion reactions, aging, and cancers—leave telltale signatures in the millions of V(D)J-rearranged antibody and T cell receptor [TR per the Human Genome Organization (HUGO) nomenclature but more commonly known as TCR] genes collectively expressed by a person’s B cells (antibodies) and T cells. We refer to these as the immunome. Because of its diversity and complexity, the immunome provides singular opportunities for advancing personalized medicine by serving as the substrate for a highly multiplexed, near-universal blood test. Here we discuss some of these opportunities, the current state of immunome-based diagnostics, and highlight some of the challenges involved. We conclude with a call to clinicians, researchers, and others to join efforts with the Adaptive Immune Receptor Repertoire Community (AIRR-C) to realize the diagnostic potential of the immunome.
Highlights
The convergence of high-throughput sequencing technologies with advances in computation and data science has given sequencing a growing role in clinical diagnosis
We conclude with a call to clinicians, researchers, and others to join efforts with the Adaptive Immune Receptor Repertoire Community (AIRR-C) to realize the diagnostic potential of the immunome
In situations where there are many variants that may be diagnostically or prognostically useful, as is the case for cancer and in genetic disorders such as cystic fibrosis, sequencing has been shown to be more sensitive than tests that target a limited set of variants, for example using PCR [5, 6]
Summary
The convergence of high-throughput sequencing technologies with advances in computation and data science has given sequencing a growing role in clinical diagnosis. We conclude with a call to clinicians, researchers, and others to join efforts with the Adaptive Immune Receptor Repertoire Community (AIRR-C) to realize the diagnostic potential of the immunome. NGS-based testing has advanced the field of immunogenomics, providing a more streamlined means of identifying and cataloguing novel human leukocyte antigen (HLA) genes and associating allelic variants and haplotypes with diseases and immune perturbations (see below).
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