Defining purpose: a key step in genetic test evaluation.

Department of Medical History and Ethics, University of Washington, Seattle, Washington 98195-7120, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 6.44). 11/2007; 9(10):675-81. DOI: 10.1097/GIM.0b013e318156e45b
Source: PubMed
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    ABSTRACT: The use of predictive genomic information to improve medical care remains a contentious topic. However, it is generally agreed that the potential of genomics to improve medicine relies on medical care providers' ability to effectively communicate and put in context the meaning of test results. As the amount of information available increasingly outstrips providers' ability to offer qualified judgments on what the information means, consumers inevitably will be faced with test results of uncertain significance, as well as difficult questions about what they do or do not wish to know. Results of this survey of 64 primary care doctors in Estonia suggests that it may be inherently difficult for physicians to withhold genetic information obtained by genome scans or sequencing, even when they believe that having that information is not in the best interests of their patient. The descriptive data suggest introducing genomic medicine through primary care physicians, as proposed by the Estonian Genome Center of the University of Tartu, will require further genetics education as well as a carefully developed set of guidelines for determining where, when and how to use test results.
    Journal of Genetic Counseling 12/2011; 21(4):591-604. DOI:10.1007/s10897-011-9424-3 · 1.75 Impact Factor
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    ABSTRACT: • Some aspects of genetic health care (non-directive counselling, risk assessment and practical and emotional adjustment to the disorder) are unchanged by the explosion in genetic knowledge. • Three complex disorders: haemochromatosis, neural tube defects, schizophrenia, and their genetic counselling implications are discussed. • The role of genetic services in genetic susceptibility testing is less clear. • Accurate diagnosis, the ability to communicate the risk and precise risk estimation will remain important. KeywordsGenetic counselling-Susceptibility testing-Genetic tests
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Ronald L Zimmern