, Volume 1, Issue 2, pp 182–188 | Cite as

Biomarkers: Potential uses and limitations

  • Richard MayeuxEmail author


Biomarkers provide a dynamic and powerful approach to understanding the spectrum of neurological disease with applications in observational and analytic epidemiology, randomized clinical trials, screening and diagnosis and prognosis. Defined as alterations in the constituents of tissues or body fluids, these markers offer the means for homogeneous classification of a disease and risk factors, and the can extend our base information about the underlying pathogenesis of disease. Biomarkers can also reflect the entire spectrum of disease from the earliest manifestations to the terminal stages. This brief review describes the major uses of biomarkers in clinical investigation. Careful assessment of the validity of biomarkers is required with respect to the stage of disease. Causes of variability in the measurement of biomarkers range from the individual to the laboratory. Issues that affect the analysis of biomarkers are discussed along with recommendations on how to deal with bias and confounding.

Key Words

Antecedent biomarkers diagnostic biomarkers variability reliability validity 


  1. 1.
    Hulka BS. Overview of biological markers. In: Biological markers in epidemiology (Hulka BS, Griffith JD, Wilcosky TC, eds), pp 3–15. New York: Oxford University Press, 1990.Google Scholar
  2. 2.
    Naylor S. Biomarkers: current perspectives and future prospects.Expert Rev Mol Diagn 3: 525–529, 2003.PubMedCrossRefGoogle Scholar
  3. 3.
    Perera FP, Weinstein IB. Molecular epidemiology: recent advances and future directions.Carcinogenesis 21: 517–524, 2000.PubMedCrossRefGoogle Scholar
  4. 4.
    Gordis L. Epidemiology and public policy. In: Epidemiology (Gordis L, ed), pp 247–256. Philadelphia: W.B. Saunders, 1996.Google Scholar
  5. 5.
    Verbeek MM, De Jong D, Kremer HP. Brain-specific proteins in cerebrospinal fluid for the diagnosis of neurodegenerative diseases.Ann Clin Biochem 40: 25–40, 2003.PubMedCrossRefGoogle Scholar
  6. 6.
    Galasko D. New approaches to diagnose and treat Alzheimer’s disease: a glimpse of the future.Clin Geriatr Med 17: 393–410, 2001.PubMedCrossRefGoogle Scholar
  7. 7.
    Rohlff C. Proteomics in neuropsychiatric disorders.Int J Neuropsychopharmacol 4: 93–102, 2001.PubMedCrossRefGoogle Scholar
  8. 8.
    Reiber H, Peter JB. Cerebrospinal fluid analysis: disease-related data patterns and evaluation programs.J Neurol Sci 184: 101–122, 2001.PubMedCrossRefGoogle Scholar
  9. 9.
    Schulte PA. A conceptual and historical framework for molecular epidemiology. In: Molecular epidemiology: principles and practices (Schulte PA, Perera FP, eds), pp 3–44. San Diego: Academic Press, 1993.Google Scholar
  10. 10.
    Merikangas K. Genetic epidemiology: bringing genetics to the population—the NAPE Lecture 2001.Acta Psychiatr Scand 105: 3–13, 2002.PubMedCrossRefGoogle Scholar
  11. 11.
    Muller U, Graeber MB. Neurogenetic diseases: molecular diagnosis and therapeutic approaches.J Mol Med 74: 71–84, 1996.PubMedCrossRefGoogle Scholar
  12. 12.
    Mayeux R. Epidemiology of neurodegeneration.Annu Rev Neurosci 26: 81–104, 2003.PubMedCrossRefGoogle Scholar
  13. 13.
    Schulte PA, Perera FP. Validation. In: Molecular epidemiology: principles and practices (Schulte PA, Perera FP, eds), pp 79–107. San Diego: Academic Press, 1993.Google Scholar
  14. 14.
    Pepe MS, Thompson ML. Combining diagnostic test results to increase accuracy.Biostatistics 1: 123–140, 2000.PubMedCrossRefGoogle Scholar
  15. 15.
    Thompson ML, Zucchini W. On the statistical analysis of ROC curves.Stat Med 8: 1277–1290, 1989.PubMedCrossRefGoogle Scholar
  16. 16.
    Mayeux R, Saunders AM, Shea S et al. Utility of the apolipoprotein E genotype in the diagnosis of Alzheimer’s disease. Alzheimer’s Disease Centers Consortium on apolipoprotein E and Alzheimer’s disease.N Engl J Med 338: 506–511, 1998.PubMedCrossRefGoogle Scholar

Copyright information

© The American Society for Experimental NeuroTherapeutics, Inc 2004

Authors and Affiliations

  1. 1.Gertrude H. Sergievsky Center and the Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and SurgeonsColumbia UniversityNew York

Personalised recommendations