SUBJECT: Genomics and Proteomics
DISCOVERY OF NOVEL BIOMARKERS USING
GENOMICS AND PROTEOMICS APPROACHES
1
, 1. What are biomarkers?
The term “biomarker”, a portmanteau of “biological marker”, refers to a broad subcategory of
medical signs – that is, objective indications of medical state observed from outside the patient
– which can be measured accurately and reproducibly. Medical signs stand in contrast to
medical symptoms, which are limited to those indications of health or illness perceived by
patients themselves.
In 1998, the National Institutes of Health Biomarkers Definitions Working Group defined
a biomarker as “a characteristic that is objectively measured and evaluated as an indicator
of normal biological processes, pathogenic processes, or pharmacologic responses to a
therapeutic intervention.” (1)
The ultimate goals for research focused on complex human diseases are to either prevent or to
cure the diseases. These are ambitious goals that will be greatly facilitated by the identification
of new biomarkers that can serve as novel diagnostic or prognostic indicators of disease course,
that can be used as surrogate disease markers to track the efficacy of novel treatment strategies,
or that may provide new targets for the treatment of the diseases.
2
DISCOVERY OF NOVEL BIOMARKERS USING
GENOMICS AND PROTEOMICS APPROACHES
1
, 1. What are biomarkers?
The term “biomarker”, a portmanteau of “biological marker”, refers to a broad subcategory of
medical signs – that is, objective indications of medical state observed from outside the patient
– which can be measured accurately and reproducibly. Medical signs stand in contrast to
medical symptoms, which are limited to those indications of health or illness perceived by
patients themselves.
In 1998, the National Institutes of Health Biomarkers Definitions Working Group defined
a biomarker as “a characteristic that is objectively measured and evaluated as an indicator
of normal biological processes, pathogenic processes, or pharmacologic responses to a
therapeutic intervention.” (1)
The ultimate goals for research focused on complex human diseases are to either prevent or to
cure the diseases. These are ambitious goals that will be greatly facilitated by the identification
of new biomarkers that can serve as novel diagnostic or prognostic indicators of disease course,
that can be used as surrogate disease markers to track the efficacy of novel treatment strategies,
or that may provide new targets for the treatment of the diseases.
2
