Products developed by ArthroChip will enhance diagnostic testing for autoimmune diseases. The strategy for using gene signatures in peripheral blood to determine the presence of an autoimmune condition is novel and has distinct advantages over tests that are currently available to physicians and researchers. The overall goal is to produce several platforms based on this signature to cover various applications from basic and clinical research to clinical medicine ranging from primary care to specialist. The initial products will be for establishment of a diagnosis of autoimmune disease. Other products will be developed that use a similar approach to subsets of diseases within the autoimmune category. Additional work is being done to define a signature for use in patients with allergic diseases or asthma and in patients with immune and non-immune forms of diabetes mellitus. In all cases, multiple platforms are under development. Some will be most applicable to a research laboratory and will be sold to other investigators or scientists in the field. This may include pharmaceutical companies that are interested in the development of therapeutics for these patients. Other platforms will be designed to accommodate needs of physicians in practice.
Autoimmune diseases are estimated to affect 3-5% of the population. More importantly, many more patients are suspected of having one of these disorders and it is likely that at least twice this number of persons would be tested for autoimmune disease at least once in the course of their medical care. Furthermore, physicians now recognize that early diagnosis of disorders like lupus, rheumatoid arthritis and multiple sclerosis is critical if treatments are to have maximum effect. This means that the diagnosis must be established before damaging manifestations of disease are apparent. The most feasible approach to screening for early diagnosis is through blood tests that can be administered and interpreted even in the primary care setting. Currently available blood tests do not permit efficient screening and referral of appropriate patients for specialty consultation and further testing. The most classic example of this is the measurement of antinuclear antibodies (ANA) in lupus. Lupus is a relatively rare disorder, affecting probably 0.05% of the population. However, screening studies in unselected samples of apparently normal subjects have repeatedly shown that 20% or more may show positivity on ANA testing. This means that the vast majority of ANA positive tests occur in individuals who do not have lupus. These false positive test results cause unnecessary referrals to rheumatologists, trigger costly additional tests and cause anxiety for patients and families. In patients who may be suspected of having multiple sclerosis, no currently available blood tests permit efficient screening for risk and multiple neurologic evaluations with imaging studies are often required to determine whether in fact the disease is present. In addition to adding to the cost of care, this period of testing can delay institution of therapies that are now available for treatment of MS.
Current estimates are that the specialist physicans needed to treat diseases like systemic lupus and rheumatoid arthritis are insufficient to meet the needs of patients. In 1994, it was estimated in the Journal of the American Medical Association that there was less than one rheumatologist available for every 100,000 persons, and with aging of the population, this ratio is likely to decrease significantly. The average wait to see a rheumatologist in the US is 3 months, even in cities with high physician numbers like Boston. Evaluation for uncertain joint pain syndromes or positive ANAs of unclear significance constitute a large proportion of these patients waiting for evaluation. Availability of a test that could definitively exclude autoimmune disease from consideration would have a significant impact on this situation, clearing the way for patients with the most potential for having an autoimmune disease to be seen more promptly.
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