Abstract Perspective: Current status of use of high throughput nucleotide sequencing in rheumatology


The aim of ‘precision medicine’ is the development of novel diagnosis, prevention and treatment strategies by taking into account the individuality of a patient including the individual molecular profile. The development of high throughput sequencing (HTS) platforms, collectively still called ‘next-generation sequencing’ (NGS), in conjunction with non-invasive profiling strategies, including ‘liquid biopsies’, allow one to obtain information about a disease state or response to treatment using, for example, blood from patients, followed by HTS profiling and subsequent bioinformatic analysis. While this concept is already implemented in oncology, its adoption in rheumatology has not been quantified yet. In this paper, we i) argue here that HTS offers enormous potential to pave the way to personalized therapy for patients with rheumatic diseases, particularly due to its extreme molecular and phenotypic heterogeneity, and ii) review both the literature using HTS and public HTS datasets in rheumatological diseases to quantify the adoption of this technology in rheumatology.

– Dr. Boegel, study author