Outcomes of interest in evidence-based evaluations of genetic tests

Genet Med. 2010 Apr;12(4):228-35. doi: 10.1097/GIM.0b013e3181cdde04.


Genetic tests are increasingly available for use in traditional clinical practice settings and through direct-to-consumer marketing. The need for evidence-based information and guidance on their appropriate use has never been more apparent. The independent Working Group of the Evaluation of Genomic Applications in Practice and Prevention Initiative commissions evidence-based reviews and develops recommendations to inform decision making surrounding the implementation of genetic tests and other applications of genomic technologies into clinical practice. A critical component of this analysis involves the identification and appropriate weighting of relevant health outcomes from genetic testing. Impacts of testing on morbidity and mortality are central considerations although research to document such outcomes can be challenging to conduct. In considering the broader impacts of genetic tests on the individual, familial and societal levels, psychosocial outcomes often take on increasing importance, and their systematic evaluation is a challenge for traditional methods of evidence-based review. Incorporating these types of outcomes in evidence-based processes is possible, however, and necessary to extract balanced and complete (or as complete as available data will allow) information on potential benefits and on potential harms. The framework used by the Evaluation of Genomic Applications in Practice and Prevention Working Group in considering, categorizing, and weighting health-related outcomes as applied to genomic technologies is presented here.

MeSH terms

  • Evidence-Based Medicine / methods*
  • Genetic Predisposition to Disease
  • Genetic Testing / methods*
  • Genetic Testing / standards*
  • Genome-Wide Association Study / methods
  • Genome-Wide Association Study / standards
  • Humans
  • National Health Programs
  • Outcome Assessment, Health Care / methods*
  • Risk Assessment
  • Risk Factors
  • United States