Biomarkers and screening

Advice on research activities

The term ‘biomarker’ in general refers to a specific molecule, gene or characteristic from which a physiological process can be identified. Biomarkers are typically coded in one of three research activity groups:

2 Aetiology:   Where markers may be first identified in epidemiology studies or further assessed to determine how the molecule/gene/etc. contribute to the cause, risk or development of disease.

4 Detection and Diagnosis:   Where studies of biomarker discovery and biomarkers screening for the purposes of disease diagnosis or prognosis are usually within 4 Detection and Diagnosis.

5 Treatment Development:   Specifically where markers are used to develop treatments. However if looking at pharmacogenetic studies in pre-clinical settings or model systems, most commonly in pharmacogenetic studies (5.1) it should be classified in 5 Treatment Development. Identification of receptor pathways should be classified in 2 Aetiology.

Examples:

• The initial discovery of BRCA1 gene mutations as potential risk factors for breast cancer in epidemiology studies and would be coded in 2 Aetiology.
• Characterisation of BRCA1 gene, protein and pathway in cancer would likewise be coded in 2 Aetiology.
• The pre-clinical development and subsequent clinical application of techniques for screening for BRCA1 mutations to determine diagnosis or prognosis would be coded 4 Detection & Diagnosis.
• Assessment of BRCA1 expression for pharmacogenetics in drug development would be coded 5.1 Treatment Development – Pharmaceuticals.