Journal of Community Genetics

, Volume 1, Issue 4, pp 185–194

Points to consider in assessing and appraising predictive genetic tests


    • Helmholtz Zentrum MünchenGerman Research Center for Environmental Health (GmbH)
    • Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Clinical CenterLudwig Maximilians University
  • Scott D. Grosse
    • National Center on Birth Defects and Developmental DisabilitiesCenters for Disease Control and Prevention
  • Jürgen John
    • Helmholtz Zentrum MünchenGerman Research Center for Environmental Health (GmbH)
  • Helena Kääriäinen
    • National Institute for Health and Welfare
  • Alastair Kent
    • Genetic Interest Group
  • Ulf Kristofferson
    • Department of Clinical GeneticsUniversity and Regional Laboratories and Lund University, University Hospital
  • Jörg Schmidtke
    • Institut fuer HumangenetikMedizinische Hochschule Hannover

DOI: 10.1007/s12687-010-0028-7

Cite this article as:
Rogowski, W.H., Grosse, S.D., John, J. et al. J Community Genet (2010) 1: 185. doi:10.1007/s12687-010-0028-7


The use of predictive genetic tests is expanding rapidly. Given limited health care budgets and few national coverage decisions specifically for genetic tests, evidence of benefits and harms is a key requirement in decision making; however, assessing the benefits and harms of genetic tests raises a number of challenging issues. Frequently, evidence of medical benefits and harms is limited due to practical and ethical limitations of conducting meaningful clinical trials. Also, clinical endpoints frequently do not capture the benefit appropriately because the main purpose of many genetic tests is personal utility of knowing the test results, and costs of the tests and counseling can be insufficient indicators of the total costs of care. This study provides an overview of points to consider for the assessment of benefits and harms from genetic tests in an ethically and economically reflected manner. We discuss whether genetic tests are sufficiently exceptional to warrant exceptional methods for assessment and appraisal.


Resource allocationGenetic testingCosts and cost analysis

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© Springer-Verlag 2010