Genetic testing and economic evaluations: a systematic review of the literature

Epidemiol Prev. 2015 Jul-Aug;39(4 Suppl 1):45-50.


Objectives: To identify those studies in which economic analysis of predictive genetic and pharmacogenetic testing programs have been carried out. Since the Italian National Prevention Plan 2014-2018 foresees the implementation of genetic testing for inherited breast cancer, special attention was given to the cost-effectiveness of BRCA1/2 testing programs.

Methods: A systematic review of primary economic evaluations (EEs) of predictive genetic and pharmacogenetic testing programs and an overview of previously published systematic reviews of economic evaluations (ERs) was performed.

Results: Overall 128 EEs and 11 ERs were identified. The methodological quality of both EEs and ERs was good on average. Both predictive genetic and pharmacogenetic testing programs were mainly concerned with oncological diseases. Seventeen percent of genetic testing programs are cost-saving, while a further 44% of cost/QALY ratios fall under the commonly used threshold of €37,000 per QALY. For BRCA1/2 testing, only cascade genetic screening programs, targeted to close relatives of carriers, show clear evidence of cost-effectiveness.

Conclusion: Despite some limitations, EEs and ERs are powerful tools that provide indications to policy-makers on which genetic testing programs might be introduced into health care systems and public health practice.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • Breast Neoplasms / economics
  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control
  • Cost-Benefit Analysis
  • Delivery of Health Care / economics
  • Early Detection of Cancer / economics
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Diseases, Inborn / economics
  • Genetic Diseases, Inborn / genetics
  • Genetic Predisposition to Disease
  • Genetic Testing / economics*
  • Global Health
  • Health Care Costs
  • Humans
  • Insurance, Health, Reimbursement
  • Life Expectancy
  • Ovarian Neoplasms / economics
  • Ovarian Neoplasms / genetics
  • Ovarian Neoplasms / prevention & control
  • Pharmacogenomic Testing / economics*
  • Quality-Adjusted Life Years