The use of genealogy databases for risk assessment in genetic health service: a systematic review
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REVIEW
The use of genealogy databases for risk assessment in genetic health service: a systematic review Vigdis Stefansdottir & Oskar Th. Johannsson & Heather Skirton & Laufey Tryggvadottir & Hrafn Tulinius & Jon J. Jonsson
Received: 19 October 2011 / Accepted: 31 May 2012 / Published online: 18 July 2012 # Springer-Verlag 2012
Abstract 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 V. Stefansdottir : J. J. Jonsson (*) Department of Genetics and Molecular Medicine, Landspitali, The National Univ. Hosp. of Iceland, Reykjavik, Iceland e-mail: [email protected] O. T. Johannsson Department of Medical Oncology, Landspitali, The National Univ. Hosp. of Iceland, Reykjavik, Iceland H. Skirton Faculty of Health, Education and Society, Plymouth Univ., Plymouth, UK J. J. Jonsson Department of Biochemistry and Molecular Biology, University of Iceland, Reykjavik, Iceland L. Tryggvadottir Icelandic Cancer Registry, Reykjavik, Iceland H. Tulinius : J. J. Jonsson The Genetical Committee of the University of Iceland, Reykjavik, Iceland V. Stefansdottir : L. Tryggvadottir Faculty of Medicine, University of Iceland, Reykjavik, Iceland
undertaken using 12 combined search terms to identify all relevant published articles. Data sources: 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. Keywords Genealogy databases . Genetic service . Cancer registry . Risk assessment . Systematic review . Genealogy . Databases . Health services
Introduction Genealogical records, both private and public, exist in many forms and have often been kept for a long time. Examples of old genealogy records are from the Royal Family of Japan, the genealogy descriptions in the Holy Bible and in an Irish textbook written in 1649 describing the Irish settlement (Wikipedia 2011; Firbishigh 1649–1653?). Recently, genealogy data have been stored in an electronic format and are sometimes available online (General Register Office for Scotland 2007). As an example “The Scotland’s People” database, holding approximately 50 million records, which is accessible to those paying a small fee (General Register Office for Scotland 2007). The Mormon Church in Utah maintains a large public genealogy database, “FamilyS
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