Glossary of terms (terminology and key principles).

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A characteristic that is an indicator of normal biological or pathogenic processes, or pharmacologic responses to a therapeutic intervention.

  • cTn-s are biomarkers of cardiac diseases associated with myocardial ischemia and necrosis
  • HbA1c is a biomarker of altered glycosylation in hyperglycaemic states, such as diabetes mellitus
Entry link: Biomarker

Broader impact

Consequences of testing beyond clinical effectiveness and cost-effectiveness (e.g. acceptability, social, psychological, legal, ethical, societal, organizational consequences and other aspects). 


  • Psychological impact of genetic testing for familial hypercholesterolemia: An RCT in a population previously aware of their hypercholesterolemia found that finding a mutation by genetic testing did not reduce patients' perceptions of control over the disease and adherence to risk-reducing behaviors, but did affect their perceptions of how control is most effectively achieved. 
Entry link: Broader impact