234 pages 

Date published 
June 2007 

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Disease-Related Biomarkers Overview


Cover ImageDisease-Related Biomarkers: Their Potential in Patient Screening, Prognosis, and Stratification

By Ken Rubenstein, PhD




Expert guidance in managing discovery and development of disease-related biomarkers

This report focuses on disease-related biomarkers, those related to disease screening, prognosis, and stratification—more specifically, disease-related molecular biomarkers. Aspects covered include:

  • Historical and contextual information
  • Strategies and technologies currently used for biomarker discovery and development
  • Progress in biomarker discovery and development in several disease areas
  • Current and future roles of consortia in disease-related biomarker discovery and development
  • Market-related considerations, including the role of various sectors, competitive activity, deal activity, and regulatory factors
  • Two separate surveys of individuals in (1) the pharma and biopharma sectors, and (2) biomarker discovery and diagnostic sectors. Both surveys capture attitudes, intentions, and current practices of individuals at the forefront of disease-related biomarker discovery and development.
  • Profiles of 44 companies active in disease-related biomarkers
  • In-depth interviews with 7 disease-related biomarker experts

Biomarker discovery has grown dramatically during the past decade, driven by:

  • The availability of powerful new "omics" technologies
  • The increasing utilization of new and untested targets in pharma
  • The opportunity to replace suboptimal in vitro diagnostic assays with improved biomarkers

Disease-related biomarkers are not a new phenomenon. Early examples include blood glucose for diabetes diagnosis and management and cholesterol for cardiovascular risk. However, introduction of DNA microarrays in the mid-1990s enabled a revolution in transcriptomics and triggered a major paradigm shift in the way life scientists approached research. Subsequently, metabolomics and metabonomics, applied mainly to safety-related biomarkers originally, began to turn to disease-related biomarkers.

Disease-Related Biomarkers: Their Potential in Patient Screening, Prognosis, and Stratification goes into great detail on the competitive issues in disease biomarker research and development, which, according to the results of an Insight Pharma survey of people involved, will see an increase in funding over the near future.


Presently, oncology is the most active field for disease biomarker research and development, primarily because cancer therapy routinely provides biopsy and surgically excised tissue and because pharma and biotech companies are highly active in cancer drug discovery. Among the greatest needs in disease biomarker research today are molecular biomarkers for neurological diseases, where use of human tissue as a sample is impractical and cerebrospinal fluid is only slightly less so. Much of the neurological focus today is on Alzheimer’s disease and schizophrenia.

Big pharma’s apparent coolness to discovering and validating disease-related biomarkers has led companies to seek outside sources for them. A successful consortium effort to identify single nucleotide polymorphisms—the SNP consortium—however, has provided a model for cost-effective programs for disease biomarker discovery, and the most recent effort for this model is the PhRMA/NIH/FDA Biomarkers Consortium. Launched in October 2006, the consortium plans to discover and validate biomarkers for the early detection, diagnosis, and treatment of disease.

The disease-related biomarker enterprise consists of several sectors, notably academic and government institutions, drug discovery and development organizations, companies specializing in biomarker discovery, in vitro diagnostic companies, and regulatory agencies. In the noncommercial sector, only half of the programs considered in this report had advanced to the stage of identifying candidate biomarkers. By contrast, all commercial programs had advanced to the candidate stage, and more than half had reached the clinical trials stage or beyond, to commercialization.

Disease-Related Biomarkers: Their Potential in Patient Screening, Prognosis, and Stratification is an essential tool for anyone involved in the discovery, validation, development, or commercialization of disease-related biomarkers.

About the Author:

Ken Rubenstein, PhD, a biochemist and molecular biologist, received his PhD at the University of Wisconsin and postdoctoral training at the University of Pennsylvania School of Medicine. He was a key innovator and research manager for Syva Company, the diagnostics branch of Syntex Corporation. During his 13 years with Syva, Dr. Rubenstein became vice president, scientific affairs, a function that included strategic planning.