By Dr. Stefan Müllner
Autoimmune diseases are highly prevalent, affecting more people than cancer, yet they receive just a fraction of the financial investment. This is because such diseases are complex, making them difficult to diagnose and treat effectively. The IVD market for autoimmune disease is expanding, but the uptake of new techniques is slow and there are numerous regulations to adhere to, making it a difficult therapeutic area to invest in. However, the implementation of approaches and technologies, such as proteomics, genomics, lab automation, and companion diagnostics in combination with bioinformatics and novel IT solutions can help to generate more effective treatment plans, while driving the market to stimulate investment and improve patient options and outcomes.
The need for specific diagnosis
The pharmaceutical industry is more actively looking for patient stratification, personalized therapies and companion diagnostics across all therapeutic areas, but investment to date has heavily focussed on oncology. Work in the oncology sector has proven the importance of biomarker research for more accurate diagnoses and patient stratification using companion diagnostics, something which now needs to be applied to other markets such as the autoimmune sector in order to boost development and treatment efficacy. Current clinical autoimmune diagnostics is dominated by older technologies, which lack specificity and may lead to false positives, misdiagnoses and the administration of incorrect drug therapy, causing an unnecessary investment of time and money in treatment plans that are not needed.
The high cost of misdiagnosis to both patients and labs highlights the need for investment into biomarker research to provide superior assays and IVD products. This would lead to significant improvements to specificity and sensitivity, generated by multi-marker panels and innovative algorithms. Such tools will facilitate patient stratification, therapy selection and monitoring. This will help users to achieve an accurate diagnosis as early as possible. But investing in such an approach is risky, and many companies lack the knowledge and expertise to enter such a venture. In order to increase profitability, most diagnostic companies are turning to automation to increase throughputs and decrease labour costs, but the instruments need to be fed with new assays in order to truly increase ROI. For example, 30 years ago there were around 5 known biomarkers for oncology, but after investment into the use of companion diagnostics, there are now more than 100, which significantly boosted the success of diagnoses by cancer type. The same approach needs to be applied to other indications in order to provide the novel content needed for the advancement of drug therapy. It’s those markers, combined with an investment in genomics that have allowed for the recent stratification of cancer patients.
Investing in success
It is well recognized that autoimmune disease is an attractive business area, but regulatory bodies have not developed any guidelines or demand for companion diagnostic markers in autoimmunity, making it challenging to progress therapeutic discovery. The need for advanced diagnostics in autoimmunity research should prompt pharma companies to continue looking at how best to implement automation and multiplexing to help drive the search for novel autoimmune markers. However, the diagnostic, and more specifically the companion diagnostic, market for autoimmune disease is still lower priority for pharma than other therapeutic areas (cancer, diabetes) and overcoming this means addressing the complexities and costs associated with commercialization, such as the need for peer review content to be published, KOLs to be recruited and regulatory guidelines to be developed and implemented.
The future of the market
The success of diagnostics for the autoimmune market is tied to the investment in, and success of, novel molecular biomarkers for more specific diagnoses, for example the definition of patient subgroups, therapy selection, and response prediction. These capabilities, combined with a move towards fully automated instrumentation, will provide multiplexing options, and data quality to allow for multimodal data integration with specific algorithms. We see this new concept complementing advances in precision medicine, to provide significant changes in the diagnostic market with respect to speed, precision, quality, reproducibility, lab-to-lab comparability and digital health options. The eventual creation of public or commercial autoimmune repositories for high quality and well described patient specimens will enable and support innovative biomarker research and validation in both academia and industry.
Author bio: Dr. Stefan Müllner, CEO and Cofounder of Protagen Diagnostics, has more than 25 years’ experience in biotech and Pharma R&D, and he has served in general management positions at fundamenta CAPITAL, Henkel, and Hoechst.