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Points to consider in assessing and appraising predictive genetic tests

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Abstract

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.

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Notes

  1. http://www.health.nsw.gov.au/policies/gl/2007/pdf/GL2007_013.pdf (downloaded on January 19, 2010)

  2. See http://www.genetests.org/servlet/access?id=8888891&key=Wt-CocgvbZFre&fcn=y&fw=FNL-&filename=/concepts/primer/primerwhatistest.html (downloaded on December 22, 2009; pharmacogenetics included)

  3. See: http://www.eurogentest.org/uploads/1247230263295/GenDG_German_English.pdf (uploaded on May 17, 2010)

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Acknowledgments

We acknowledge the comments from various colleagues, especially Mary Ann Baily, Dan Callahan, Per Carlsson, Katharina Fischer, Michael Krawczak and Irma Nippert, and three reviewers from the US Centers for Disease Control and Prevention. All errors of omission and commission remain our own. The study was partly supported by EuroGentest, an EU FP6 supported NoE contract number 512148 (EuroGentest Unit 3: Clinical genetics, community genetics, and public health; Workpackage 3.2 (J. Schmidtke)).

Disclaimer

The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the US Centers for Disease Control and Prevention or other authors’ affiliations.

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Authors and Affiliations

  1. Helmholtz Zentrum München, German Research Center for Environmental Health (GmbH), Ingolstädter Landstrasse 1, 85764, Neuherberg, Germany

    Wolf H. Rogowski & Jürgen John

  2. Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Clinical Center, Ludwig Maximilians University, Ziemssenstrasse 1, 80336, Munich, Germany

    Wolf H. Rogowski

  3. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Road, MS E64, Atlanta, GA, 30333, USA

    Scott D. Grosse

  4. National Institute for Health and Welfare, P.O. Box 30, 00271, Helsinki, Finland

    Helena Kääriäinen

  5. Genetic Interest Group, Unit 4D, Leroy House, 436 Essex Road, London, N1 3QP, UK

    Alastair Kent

  6. Department of Clinical Genetics, University and Regional Laboratories and Lund University, University Hospital, 221 85, Lund, Sweden

    Ulf Kristofferson

  7. Institut fuer Humangenetik, Medizinische Hochschule Hannover, Carl-Neuberg-Strasse 1, 30625, Hannover, Germany

    Jörg Schmidtke

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  1. Wolf H. Rogowski
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Correspondence to Wolf H. Rogowski.

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Rogowski, W.H., Grosse, S.D., John, J. et al. Points to consider in assessing and appraising predictive genetic tests. J Community Genet 1, 185–194 (2010). https://doi.org/10.1007/s12687-010-0028-7

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  • DOI: https://doi.org/10.1007/s12687-010-0028-7

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