Role of Biomarkers in Healthcare


Study of biomarkers of various diseases will help to improve the management in the following ways:

  • 1. Providing a better understanding of the disease pathomechanisms.
  • 2. Screening to detect early-stage disease in the asymptomatic population and consider pre-emptive treatment.
  • 3. Establishing definite diagnosis and precise description of the disease
  • 4. Classification of patients by disease subset
  • 5. Improving the determination of prognosis.
  • 6. Providing a basis for development of therapeutics and monitoring the effect of therapeutics on the disease.
  • 7. Identification of patients with a high probability of adverse effects of a treatment
  • 8. Posttreatment monitoring for early detection of recurrence and advancing disease or complications.
  • 9. Predict response to particular therapies and choose the drug that is mostly likely to yield a favorable response in a given patient, i.e. personalized medicine.
  • 10. Combination of diagnostics with therapeutics based on the same biomarker in some cases.

Biomarkers that will be useful for either disease prediction or treatment should have one or more of several properties, including:

  • • Specific and selective association with illness in a population
  • • Heritability
  • • Independently indicate the presence of the disease regardless of the presence or absence of the clinical phenotype
  • • Co-segregation with disease within families
  • • Presence in relatives of affected individuals at a higher rate than in the general population.

© Springer Science+Business Media LLC 2017

K.K. Jain, The Handbook of Biomarkers, DOI 10.1007/978-1-4939-7431-3_5

A biomarker should fulfill three criteria to be useful clinically:

  • 1. Accurate, repeated measurements must be available to the clinician at a reasonable cost and with short turnaround times.
  • 2. The biomarker must provide information that is not already available from a careful clinical assessment.
  • 3. The measured level should aid in medical decision making.

Although one single biomarker fulfils all these conditions, multiple relevant disease biomarkers that can be examined concurrently increase diagnostic specificity. Important therapeutic areas that are currently the focus of biomarker discovery are cancer, metabolic disorders, inflammatory disorders and diseases of nervous system and cardiovascular system. Some diseases overlap within these categories. Many diseases have multiple biomarkers due to involvement of different pathways. Some biomarkers, e.g. those of inflammation occur in several diseases characterized by inflammation.

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