Evaluation of Molecular Diagnostic Biomarkers

Evaluation of Molecular Diagnostic Biomarkers A biomarker is a characteristic that is objectively measured and evaluated as an indicator of normal biologic processes, pathogenic processes, or pharmacologic responses to a therapeutic intervention. It used to detect or confirm presence of a disease or condition of interest or to identify individuals with a subtype of the disease. Medical practice requires accurate diagnosis of diseases and conditions. Molecular Diagnostic biomarkers are used for the critical determination of whether a patient has a particular medical condition for which treatment may be indicated or whether an individual should be enrolled in a clinical trial studying a particular disease. As is becoming increasingly appreciated, many diseases have subtypes with markedly different prognoses or responses to a specific treatment.   

Purpose or uses of a test or biomarker: 1. Diagnosis, 2. Disease classification, 3. Risk stratification, 4. Disease prognosis, 5. Treatment stratification, 6. Treatment monitoring and 7. Population screening. 

Benefits:   A new body should be established to ensure the evaluation of molecular diagnostic tests

A publically available database be created of new and existing laboratory tests – a ‘molecular diagnostics formulary’ – containing evidence for clinical performance, and explicitly stating where any evidence is lacking. Policy makers and industry should be encouraged to address issues around gathering the necessary evidence for clinical evaluation.