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The first DNA test that can predict the evolution of knee osteoarthritis was presented in Tenerife

24 May 2013

Rheumatologists from across the country attended this morning the presentation of a new diagnosis tool that can detect worst-prognosis patients, those that are at greatest risk of needing short-term prosthetic surgery

This information allows physicians to design personalized treatments and influence the disease’s progression; reducing the need for prosthetic surgery and improving the patient’ quality of life

Costa Adeje, May 24th, 2013. Bioiberica Farma, a Spanish bio-tech company specializing in osteoarthritis, presented this morning at the 39th national congress of Rheumatology the first genetic saliva test that predicts a patients’ predisposition to suffer rapid progression knee osteoarthritis.

It is a groundbreaking product that will allow physicians to identify those patients having the worst prognosis, and who are at an elevated risk of needing prosthetic surgery in the short term.

Dr. Francisco Blanco, rheumatologist at the Juan Canalejo University Hospital, A Coruña (Spain) presented the clinical trial that provides scientific foundations for the test: “We have carried out a four-year long multicenter clinical trial involving 281 primary knee osteoarthrosis, 31 healthcare centers and professionals from different fields. Physicians from the “Juan Negrín” University Hospital from Gran Canaria (Canary Islands) contributed to the research".

The trial’ main objetive was to identify genetic markers or SNPs (Single Nucleotide Polymorphisms) significantly associated to rapid progression knee OA “We must take into account that genetics play an important role in osteoarthritis. Onset is hereditary in 40% of cases; progression is hereditary in 60-70% of cases”, added Dr. Blanco.

Patients were classified into two prognostic groups: rapid progression/worst prognosis patientes, and slow progression/best prognosis patients. DNA analysis allowed the identification of those SNPs associated with rapidly progressing OA. Then, a predictive mathematical model was developed. That model has been clinically validated in a second knee OA cohort and complies with the validity and usefulness standards of the United States’ National Institutes of Health.

On the other hand, Dr. Josep Vergés, Bioiberica Farma’s clinical pharmacologist and medical and scientific director, discussed the clinical uses of that test. “Knowing that information is useful to design a personalized treatment for every patient and to control the disease’s progression in a more efficient way”.

The test needs to be performed only once in a lifetime and consists of extracting a saliva simple from an osteoarthritis patient. DNA is extracted and sent to a laboratory, where it is analyzed to search for genetic predisposition biomarkers for rapid progression osteoarthritis. The physician receives a laboratory report that classifies the patient according to four categories: minimum, low, medium or high genetic risk.

These results will help physicians and patients alike to better understand the progression of the disease and act accordingly. If a patient is aware that his or her osteoarthritis will evolve rapidly, he will take more seriously non-pharmacological and pharmacological preventive measures, as well as his or her physician’ recommendations. Furthermore, he will have to be monitored more closely,” affirmed Dr. Verges.

The test has an 82% precision, a level that it is considered “excellent” by the international statistical standards. “There is no other genetic test available that can predict knee OA progression. There are a number of low-precision products that can analyze susceptibility or risk of suffering many diseases, among them osteoarthritis. But these are genetic tests that only detect the presence or absence of certain biomarkers, they do not carry out a real clinical diagnosis-the presence or absence of certain biomarkers does not necessarily imply that the patient will ultimately develop that disease”, explained Dr. Vergés.