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

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• 作者：Vigdis Stefansdottir (1) (7)
  Oskar Th. Johannsson (2)
  Heather Skirton (3)
  Laufey Tryggvadottir (5) (7)
  Hrafn Tulinius (6)
  Jon J. Jonsson (1) (4) (6)
  
• 关键词：Genealogy databases ; Genetic service ; Cancer registry ; Risk assessment ; Systematic review ; Genealogy ; Databases ; Health services
• 刊名：Journal of Community Genetics
• 出版年：2013
• 出版时间：January 2013
• 年：2013
• 卷：4
• 期：1
• 页码：1-7
• 全文大小：166KB
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• 作者单位：Vigdis Stefansdottir (1) (7)
  Oskar Th. Johannsson (2)
  Heather Skirton (3)
  Laufey Tryggvadottir (5) (7)
  Hrafn Tulinius (6)
  Jon J. Jonsson (1) (4) (6)
  
  1. Department of Genetics and Molecular Medicine, Landspitali, The National Univ. Hosp. of Iceland, Reykjavik, Iceland
  7. Faculty of Medicine, University of Iceland, Reykjavik, Iceland
  2. Department of Medical Oncology, Landspitali, The National Univ. Hosp. of Iceland, Reykjavik, Iceland
  3. Faculty of Health, Education and Society, Plymouth Univ., Plymouth, UK
  5. Icelandic Cancer Registry, Reykjavik, Iceland
  6. The Genetical Committee of the University of Iceland, Reykjavik, Iceland
  4. Department of Biochemistry and Molecular Biology, University of Iceland, Reykjavik, Iceland
  

文摘

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. 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.