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Journal of Public Health Advance Access originally published online on May 24, 2007
Journal of Public Health 2007 29(3):246-250; doi:10.1093/pubmed/fdm028
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© The Author 2007, Published by Oxford University Press on behalf of Faculty of Public Health. All rights reserved

The evaluation of genetic tests



Ron L. Zimmern, Director

Mark Kroese, Consultant in Public Health Medicine
Public Health Genetics Unit, Strangeways Research Laboratory, Worts Causeway, Cambridge CB1 8RN, UK

Address correspondence to Mark Kroese, E-mail: mark.kroese{at}srl.cam.ac.uk


  Abstract

Scientific advances in genetics and molecular biology have been very successful in advancing our knowledge of biological mechanisms in health and disease, and in catalysing a variety of technological innovations. The number of genetic tests available has consequently increased exponentially over the last few years. Their development has not been accompanied by processes and systems to evaluate these tests in a proper and formal manner to establish their clinical validity and utility. A framework for the evaluation of genetic tests has been developed. This paper reviews the current practice of genetic test evaluation, highlighting the limitations and future challenges in this area of public health.

Keywords: biomarker, evaluation, genetic test


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