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Genet Med. 2008 Sep;10(9):659-67. doi: 10.1097GIM.0b013e318180639d.

Twenty questions in genetic medicine--an assessment of World Wide Web databases for genetics information at the point of care.

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  • 1Division of General Internal Medicine and McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland 21093, USA.



The aim of this article was to determine the accuracy and efficiency of World Wide Web ("Web") resources to help nongeneticists answer four clinical questions about each of five common genetic conditions.


Correct answers were established by literature review. Two open-access genetics resources and seven general subscription resources were reviewed. Scoring criteria were established to define complete, partial, vague, inconsistent, not found, and wrong answers. The main outcome measures were number of answers found, accuracy, and completeness of answers. Efficiency (time per answer found) was a secondary measure.


Overall, the databases contained complete answers 33.3% of the time but contained no information as frequently (33.9%). The best database had complete answers 70% of the time, whereas the worst contained no complete answers. Five of the seven subscription databases had a total of eight wrong answers. The other two subscription databases and the two open-access genetics databases had no wrong answers. Search time ranged from 3.2 to 18.3 minutes per complete answer.


Nongeneticist providers do not have a Web resource that is accessible, accurate, and efficient to answer genetic questions that might arise in practice.

[PubMed - indexed for MEDLINE]
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