Omics Research: Its Role in the Future of Rheumatology

As healthcare professionals specializing in rheumatology, we know the importance of seeing patients as individuals as we interact with them and hear about their experiences managing their chronic illness. Clinicians treating patients with psoriatic arthritis (PsA) frequently note that patients present with highly variable signs and symptoms, trajectories of disease, and response to treatment. This heterogeneity observed in PsA as well as other rheumatic diseases is what makes rheumatology so challenging.1 In a recent article, Fitzgerald and Ritchlin reiterated how perplexing it is when some patients have an excellent response to pharmacologic treatment while others who present with similar symptoms do not respond at all.2 They advocated for additional research to better tailor treatments based on a patient’s unique clinical characteristics, otherwise known as “precision medicine.” In this article, I’ll talk about the current state of precision medicine and why omics research is important to help fill the gap between where we are today and where we need to be in the future.

Precision medicine is an approach to healthcare that takes individual variation into account.3 It is not a new concept, having grown from the theory of “personalized medicine” popularized a decade ago. Assuring that the blood administered to a patient matches that patient’s blood type is an example of precision medicine that has been in place for decades. That’s a more straightforward example. In rheumatology, along with many other medical specialties, we are faced with more complex questions. But at its essence, precision medicine is poised to answer the following question:

What if rheumatology providers could use a biomarker (or set of biomarkers) to prescribe medications for patients with PsA or other diseases based on an understanding of their genetic characteristics, the relative composition of certain types of immunologic cells, or the metabolic processes that are disrupted in their body?

In the field of oncology, this type of decision- making is increasingly becoming a part of routine clinical practice.3 Omics is a growing area of research that may ultimately make this type of precise decision-making possible in other areas such as rheumatology.

Broadly speaking, omics is a term used to describe the study of biological systems and their interactions.4 Systems biology and omics research have emerged as key methods for elucidating biologic mechanisms across multiple health conditions. Systems biology is a multidisciplinary field that examines complex biological systems at the cell, tissue, organ, or organism level. Clinicians study physiology and pathophysiology as part of their training; however, systems biology takes the understanding of these concepts to a higher level by integrating molecular biology and biochemistry, examining how molecules within the body undergo chemical changes and interact with each other.5 Advances in bio-computational methods have made “high throughput analyses” possible wherein thousands of different biological molecules can be measured simultaneously in relatively small samples of blood, tissue, or other biological samples.6 The information from these analyses can help scientists understand molecular mechanisms of health and disease within a single cell, tissue, or organ. Omics research is used to characterize individuals with and without certain disease manifestations, as well as molecular responses to tissue damage and disruptions in physiological pathways.

Multiple different types of omics approaches are reported in the literature; however, the four major areas frequently identified within molecular biology are those measuring genes, transcripts (messenger RNA), proteins, and metabolites.7 These areas, sometimes described as the “omics cascade,” represent different levels at which biological systems operate and influence each other.8 Research in different parts of the omics cascade can inform clinicians about multiple aspects of clinical practice.7 The information provided in genetics studies relates to what might happen in a specific patient; for example, having a genetic predisposition for particular types of rheumatic diseases increases an individual’s risk of developing that disease. Metabolomics, which are at the farthest end of the cascade, are the closest to “real-time” measurement of what is happening within individuals as their genetic predisposition and environmental exposures interact. Metabolomics is also the closest biological reflection of the clinical phenotype, or the outward signs and symptoms of disease that are found during a patient encounter. In some clinical situations, biomarkers which objectively measure normal biological processes or a pathological process in patients may not be available to optimally manage patients. Omics investigations can lead to identification of new and improved biomarkers, which ultimately strengthens clinical practice.6

As omics research advances and new discoveries are used in clinical practice, patient care should be enhanced. Rheumatology providers should be prepared for these advances as well as helping patients understand the complex nuances of the different approaches to their treatment.

Laura P. Kimble, PhD, RN, FNP-C, CNE, FAHA, FAAN

AUTHOR PROFILE: Laura P. Kimble, PhD, RN, FNP-C, CNE, FAHA, FAAN is a Clinical Professor and the Assistant Dean of Clinical Advancement at Emory University’s School of Nursing, and a research chair on the Rheumatology Nurses Society Board of Directors.

Participants will receive 2.75 hours of continuing nursing contact hours, including 1.75 pharmacotherapeutic contact hours, by completing the education in our course: Rheumatology Nurse Practice: Doing the Most for Our Patients with Psoriatic Arthritis” Take The Course

References:

1. Miyagawa I, Tanaka Y. The approach to precision medicine for the treatment of psoriatic arthritis. Immunol Med. 2020;1-5. [published online ahead of print]

2. FitzGerald O, Ritchlin C. Opportunities and challenges in the treatment of psoriatic arthritis. Best Pract Res Clin Rheumatol. 2018;32(3):440-452.

3. Collins FS, Varmus H. A new initiative on precision medicine. N Engl J Med. 2015;372(9):793-795.

4. Aizat WM, Ismail I, Noor NM. Recent development in omics studies. Adv Exp Med Biol. 2018;1102:1-9.

5. Tavassoly I, Goldfarb J, Iyengar R. Systems biology primer: the basic methods and approaches. Essays Biochem. 2018;62(4):487-500.

6. Micheel CM, Nass SJ, Omenn GS, Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials; Board on Health Care Services; Board on Health Sciences Policy; Evolution of Translational Omics: Lessons Learned and the Path Forward. Washington (DC): National Academies Press (US); March 23, 2012.

7. Araújo AM, Carvalho M, Carvalho F, Bastos ML, Guedes de Pinho P. Metabolomic approaches in the discovery of potential urinary biomarkers of drug- induced liver injury (DILI). Crit Rev Toxicol. 2017;47(8):633-649.

8. Dettmer K, Aronov PA, Hammock BD. Mass spectrometry-based metabolomics. Mass Spectrom Rev. 2007;26(1):51-78.