Twenty questions in genetic medicine--an assessment of World Wide Web databases for genetics information at the point of care.
ABSTRACT 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.
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ABSTRACT: Mutations in BRCA1 and/or BRCA2 (BRCA1/2) profoundly increase the risks of breast and ovarian cancers, but it is unclear whether mutations in these genes increase the risk of colorectal cancer. We investigated BRCA1/2 founder mutations and a family history of breast cancer as potential risk factors for colorectal cancer. In the population-based Molecular Epidemiology of Colorectal Cancer study in northern Israel, 1422 case patients with incident colorectal cancer, diagnosed between March 31, 1998, and December 31, 2002, and 1566 control subjects without colorectal cancer were genotyped for the BRCA1 187delAG, BRCA1 5385insC, and BRCA2 6174delT founder mutations. Genotypes and interview data from all case patients and control subjects and from only those of Ashkenazi Jewish descent (1002 case patients and 1038 control subjects) were used to calculate odds ratios [ORs] from logistic regression. Twenty-four (2.4%) case patients and 20 (1.9%) control subjects carried one of the three mutations (OR = 1.24, 95% confidence interval [CI] = 0.68 to 2.26). A family history of breast cancer in a female relative was not associated with an increased risk of colorectal cancer, even after adjustment for the presence of a BRCA founder mutation (OR = 1.03, 95% CI = 0.75 to 1.41). Although weak associations cannot be excluded, Ashkenazi BRCA founder mutations do not confer a strongly elevated risk of colorectal cancer. Similarly, a family history of breast cancer does not appear to be a strong risk factor for colorectal cancer in this population.CancerSpectrum Knowledge Environment 02/2004; 96(1):15-21. · 14.07 Impact Factor
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ABSTRACT: Lack of adequate knowledge is a common problem in medicine, but is a particular problem in a rapidly advancing field like genetics. This study uses the example of a rare genetic disorder (osteogenesis imperfecta) to understand the information needs of primary care physicians (GPs). To determine whether a knowledge gap is recognised, how GPs currently attempt to overcome it, and what features of an information resource are preferred by GPs. GPs of children affected by osteogenesis imperfecta in and around Greater London were interviewed, using both questionnaire-based semi-structured interview and a qualitatively analysed open-ended discussion. Consultations in both primary and tertiary care settings over a 5-year period were compared. Problems due to osteogenesis imperfecta were presented to GPs in about one third of consultations with these patients. GPs reported finding such patients difficult to manage due to lack of knowledge. Knowledge from tertiary sources, which was authoritative, accessible and relevant, was preferred, particularly when reasoning was explained. Primary literature and clinical guidelines were not favoured. Empirical evidence supports and elaborates theoretical models for provision of clinically useful information. A model for improved information services using authoritative web-based information linked to electronic patient records is suggested.Community Genetics 02/2006; 9(4):260-7. · 1.32 Impact Factor
Article: Hemochromatosis.[show abstract] [hide abstract]
ABSTRACT: Hemochromatosis is a common genetic disease with a wide range of clinical expression: from no symptoms to cirrhosis of the liver. The discovery of the gene has led to a genetic blood test useful in the diagnosis of hemochromatosis. Treatment by phlebotomy is simple and efficient and can prevent the development of cirrhosis, leading to a normal life expectancy.Clinics in Liver Disease 12/2004; 8(4):735-53, vii. · 2.82 Impact Factor