Studies Show Gene Profiling Increases Treatment Response, Reduces Costs

Two studies presented at the EULAR 2016 Congress showed that gene profiling can be used to quickly identify which rheumatoid arthritis (RA) patients are not responding to therapies, decreasing long-term joint damage and avoiding costs wasted on ineffective treatments. According to a press release, this method could help rheumatologists who are in need of better tools to inform their RA treatment strategies.

In the first study, James Oliver of the Arthritis Research UK, Centre for Genetics and Genomics at the University of Manchester in the UK, and colleagues performed whole genome expression profiling on blood samples from 44 RA patients. Thirty-one study participants demonstrated a good response to the anti-TNF biologic treatment adalimumab, while 12 demonstrated no response to the biologic. Blood samples were taken at the initiation of the study and at 3 months in order to assess treatment response.

“RA drugs are administered on a trial and error basis; there are no clinical biomarkers of response to guide treatment decisions,” Oliver said in the press release. “While non-responding patients can be switched to alternative therapies at 3 months, many remain on ineffective therapy for longer periods.”

Oliver and colleagues found that there was a noticeable change in the gene expression for patients who responded to the anti-TNF therapy; however, no significant changes were noted among non-responding patients.

Further analysis among patients who responded to the treatment showed that the specific genes stimulated were related to immune cell function associated with the inflammatory process in RA. The researchers wrote that this blood-based biomarker could be used to reduce the impact of long-term radiological damage and better inform pharmacological spending.

“Gene expression biomarkers are being successfully used to guide therapy decisions in the field of cancer,” Oliver said in the press release. “Therefore gene expression analysis should be explored and included in future efforts to personalize therapy in RA.”

The second study, by Gabriele Di Sante, MD, PhD, of the Institute of Rheumatology and Related Sciences at the Catholic University of the Sacred Heart in Rome, Italy, and colleagues, examined the HS1,2A enhancer polymorphism as a potential genetic biomarker of RA and of RA therapy responsiveness during the earliest phases of the disease. They studied a cohort of 329 early-phase RA patients, treated according to a control strategy.

According to the study results, patients with the allele*2 HS1,2A enhancer genotype had more severe RA at the start of treatment and were significantly less likely to respond to treatment after 3 months, compared with patients with the allele*1 genotype. 

“Our findings show that a specific genetic marker… influences not just disease activity in RA patients, but also response to therapy in the early stages of their disease,” Di Sante said in the press release. “This genetic biomarker should be further tested as a possible contributor to personalized therapy in RA.”

According to the press release, these studies represent the latest innovations in personalized medicine for treatment of RA patients, with the ultimate goal of developing treatments that achieve widespread adoption. —David Costill