Can Pharmacogenetics and Precision Medicine Change the Future of SLE Diagnosis and Treatment?

Rheumatologist Narender Annapureddy, MD, who is an Assistant Professor of Medicine at Vanderbilt University, in Nashville, Tennessee, said the findings from this current study are exciting and give more insight into understanding how SLE develops. “It also opens avenues for identification of genetic regions that increase susceptibility to other autoimmune diseases. Although it is too early to know if these discoveries will pave the way for development of new treatments, these findings may help us identify patients who may be at increased risk for developing lupus, which may have important clinical implications,” Dr Annapureddy told Rheumatology Advisor.

Alfred Kim, MD, PhD, who is an Assistant Professor of Medicine in the Division of Rheumatology Washington University School of Medicine, in St. Louis, Missouri, said these new findings may greatly improve the design of clinical trials when taking into account study participant genetic variability. 

He said they could lead to more concrete endpoints for clinical trials and ultimately increase the number of therapies that become available for SLE patients. However, Dr Kim cautioned that this technology should not be oversold to patients and clinicians should alert their SLE patients that these findings will take some time before they can be translated into clinical practice.

“I think we have always had a vision that genomics would be helpful and so many investigators have been looking hard at looking at the concept of precision medicine,” Dr Kim said in an interview with Rheumatology Advisor.

“Response to treatment or side effects to treatment may come from genetic research now underway, but it may be 5 or 10 years before it [is available] to the clinic.”

Summary and Clinical Applicability

It is feasible that this type of genetic analysis may allow for the clustering of SLE patients into specific groups, based on their genetic predispositions. Subsequently, this could improve clinical management and potentially allow for the development of more targeted therapies. Dr Wakeland and colleagues plan to continue the research by obtaining more DNA samples and expanding their analysis to additional SLE risk genes, with the goal of obtaining a data set that can be used to predict an individual’s unique risk of SLE.


Raj P, Rai E, Song R, et al. Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity. eLife. 2016;5:e12089.