On December 14 and 15, 2011, a conference titled “Identification and Utilization of Robust Biomarkers in Type 1 Diabetes” was held by JDRF in New York City. Type 1 diabetes (T1D) is a heterogeneous disease—meaning that although it is a single disease, it can have distinct differences on the molecular level (involving some of the tiniest particles in the body). These differences are factors that help to explain why the development of T1D and the progression of the disease may vary between individuals. While the factors that may cause T1D are, in part, genetic, there are other factors, considered “environmental,” such as climate, diet, or infection history, that can differentially affect disease. All of these factors taken together further contribute to the variation among individuals with T1D and to the complexity of the disease itself. Unquestionably, this variation and complexity has tremendous significance. Enter biomarkers….
A biomarker is a physical, biological, or molecular characteristic that is objectively measured and evaluated as an indicator of normal biological processes, disease-causing (or “pathogenic”) processes, or pharmacologic responses to therapeutic intervention. Biomarkers can be used to make diagnoses, to indicate disease status and stage, and to predict and/or monitor clinical response. In the field of T1D, measurements that can reliably identify disease stage or predict disease progression are lacking, as are biomarkers to measure response to particular therapies. Ideally, researchers and clinicians will be able to use biomarkers in T1D to precisely assess and track the underlying disease process—from identifying people at risk for the disease, to analyzing the manner in which the disease is progressing, to evaluating the effectiveness of treatments. However, in the field of T1D research, there has been a serious lack of reliable biomarkers that could be used to understand the core mechanisms of the disease.
Over the years, as a leader in the field of biomarkers research for T1D, JDRF has brought together scientists from different areas of expertise, including clinical medicine, immunology, beta-cell biology, and biotechnology to develop new approaches for investigating biomarkers. JDRF brought together U.S. and international investigators from various sectors of the research community, including academia, industry, and government, at a conference in December to exchange ideas and set a course for the future of biomarkers research. The goals of the conference were to evaluate the current state of biomarkers in T1D research, to identify new opportunities for discovering and validating biomarkers, and to determine the best and most efficient and collaborative way to move the field of biomarkers research forward. The investigators who attended the JDRF conference framed their presentations and discussions around the following: 1) the stages of T1D; 2) substitutes or “surrogates” of clinical effectiveness of treatments; and 3) how current and future biomarker tests or “assays” and technologies could be tailored for either objective. The sessions for the conference included “Biomarkers: Definition and Attributes—Building a roadmap for biomarker discovery in T1D,” “Current State of Biomarkers in T1D,” and “Emerging Technologies: The future of biomarkers in T1D.” Presentations spanned the range from pilot studies highlighting basic discovery efforts that may be ready for validation with appropriate samples, to slightly more mature assays that require standardization or optimization for large-scale testing, to biomarker identification strategies in other diseases that could be applied to T1D. After focused and facilitated group discussions at the conference, the investigators proposed recommendations for what types of biomarkers and testable human biological samples (such as blood, urine, saliva, etc.) are needed at each stage of T1D. They followed with recommendations on how existing resources or technologies—or an improvement of both—could be used to identify, develop, and validate biomarkers.
Advancing biomarkers research will benefit people with T1D by enabling earlier detection and improved therapies, and will ultimately allow clinicians to tailor treatments to individuals. In addition, biomarkers can be used as surrogate endpoints for clinical trials. As a surrogate endpoint, a biomarker could inform clinicians as to whether a treatment is working much earlier than it would normally take for a clinical trial to finish, and thus speed up clinical trials. Furthermore, biomarkers can be used to ensure that drugs are working effectively or to signal the need to adjust the dosage of a drug to correspond to an individual’s needs.
“Ultimately what we want is an easy-to-measure group of biomarkers that can be used in T1D disease prediction, staging, and response to therapy,” said Simi T. Ahmed, Ph.D., JDRF’s scientific program manager of immune therapies. “By hosting this conference, we now have a better understanding of the gaps in the field and the ways in which we can attempt to fill them—hopefully as a combined effort among some of the best talent around.”