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J Community Genet. 2013 Jan;4(1):1-7. doi: 10.1007/s12687-012-0103-3. Epub 2012 Jul 18.

The use of genealogy databases for risk assessment in genetic health service: a systematic review.

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Department of Genetics and Molecular Medicine, Landspitali, The National Univ. Hosp. of Iceland, Reykjavik, Iceland.


The use of electronic genealogical databases facilitates the construction of accurate and extensive pedigrees for potential use in genetic services. Genealogy databases can be linked to specific disease databases, such as cancer registries, in order to increase the accuracy of pedigrees used, and inform the genetic risk assessment. To review the published literature on the use of genealogy databases to construct pedigrees for risk assessment in genetic health service, a systematic literature search was undertaken using 12 combined search terms to identify all relevant published articles.


EbscoHost, PubMed, Web of Science, Ovid and the "grey literature", as well as the reference lists of identified studies. Of 1,035 titles identified, two papers described a study on the use of genealogy databases in cancer risk assessment and two were discussion papers. While authors of the four papers described the potential use of genealogy databases in clinical genetic services, such use has not been adequately investigated and further research is required.

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