Journal of Community Genetics

, Volume 4, Issue 1, pp 1–7 | Cite as

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. JonssonEmail author


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.


Genealogy databases Genetic service Cancer registry Risk assessment Systematic review Genealogy Databases Health services 


  1. Agarwala R, Biesecker LG, Tomlin JF, Schaffer AA (1999) Towards a complete North American anabaptist genealogy: a systematic approach to merging partially overlapping genealogy resources. Am J Med Genet 86(2):156–161PubMedCrossRefGoogle Scholar
  2. Archives TN (1998) Data Protection Act 1998. LondonGoogle Scholar
  3. Bennett RL, Steinhaus KA, Uhrich SB, O’Sullivan CK, Resta RG, Lochner-Doyle D, Markel DS, Vincent V, Hamanishi J (1995) Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors. Am J Hum Genet 56(3):745–752PubMedGoogle Scholar
  4. Bensen JT, Liese AD, Rushing JT, Province M, Folsom AR, Rich SS, Higgins M (1999) Accuracy of proband reported family history: The NHLBI Family Heart Study (FHS). Genet Epidemiol 17(2):141–150PubMedCrossRefGoogle Scholar
  5. Brewster DH, Fordyce A, Black RJ (2004) Impact of a cancer registry-based genealogy service to support clinical genetics services. Fam Cancer 3(2):139–141. doi: 10.1023/B:FAME.0000039865.29247.75 PubMedCrossRefGoogle Scholar
  6. Cannon Albright LA (2006) Computerized genealogies linked to medical histories for research and clinical care—a national view. AMIA Annu Symp Proc, 1161–1162Google Scholar
  7. Cannon Albright LA (2008) Utah family-based analysis: past, present and future. Hum Hered 65(4):209–220PubMedCrossRefGoogle Scholar
  8. Cannon Albright LA, Farnham JM, Thomas A, Camp NJ (2005) Identification and study of Utah pseudo-isolate populations—prospects for gene identification. Am J Med Genet A 137A(3):269–275. doi: 10.1002/Ajmg.A.30893 PubMedCrossRefGoogle Scholar
  9. Clark VBaV (2003) Using thematic analysis in psychology. Qual Res Psych 3:77–101Google Scholar
  10. Det Centrale Personregister CPR-kontoret.
  11. Dissemination CfRa (2009) Systematic reviewsGoogle Scholar
  12. Ekbom A (2011) The Swedish Multi-Generation Register, vol 675. Methods Biobanking 675:215–220CrossRefGoogle Scholar
  13. Firbishigh DM (1649–1653?) Leabhar na nGenealach or The great book of Irish genealogies (trans: Muraíle NO). Owned held in special collections at the UCD Library, GalwayGoogle Scholar
  14. Folkeregisteret (2007) Accessed 1 Feb 2010
  15. Gregory H, Wordsworth S, Gibbons B, Wilson B, Haites N (2007) Risk estimation for familial breast cancer: improving the system of counselling. Eur J Hum Genet 15(11):1139–1144. doi: 10.1038/sj.ejhg.5201895 PubMedCrossRefGoogle Scholar
  16. Gulcher J, Kong A, Stefansson K (2001) The genealogic approach to human genetics of disease. Cancer J 7(1):61–68PubMedGoogle Scholar
  17. Health SfP Critical Appraisal Skills Programme. Solutions for Public Health. Accessed 12 Dec 2010
  18. Janssens ACJW, Henneman L, Detmar SB, Khoury MJ, Steyerberg EW, Eijkemans MJC, Mushkudiani N, Oostra B, van Duijn CM, Mackenbach JP (2012) Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives. J Clin Epidemiol 65(1):82–89. doi: 10.1016/j.jclinepi.2011.05.003 PubMedCrossRefGoogle Scholar
  19. Jonsson JJ (2009) Genetics practice and research in a small country: lessons from Iceland. Pathology 1:2–3CrossRefGoogle Scholar
  20. Library HS Grey Literature. University of Ottawa. Accessed 1 Jul 2011
  21. Minnesota Uo (2011) Minnesota Population Center. Accessed January 2011
  22. New FamilySearch (2007) Mormon Church of Utah. Accessed 3 Sept 2007
  23. OoSPa (2004) Office of science policy and planning and national institute of health. Report iceland’s research resources: the health sector databases, genealogy databases and biobanks.
  24. Peyvandi F, Spreafico M (2008) National and international registries of rare bleeding disorders. Blood Transfus 6(Suppl 2):s45–s48PubMedGoogle Scholar
  25. Population Registry Centre (2006) Population Registry Centre. Accessed 3 Sept 2010
  26. Reis MM, Young D, McLeish L, Goudie D, Cook A, Sullivan F, Vysny H, Fordyce A, Black R, Tavakoli M, Steel M (2006) Analysis of referrals to a multi-disciplinary breast cancer genetics clinic: practical and economic considerations. Fam Cancer 5(4):297–303. doi: 10.1007/s10689-006-7849-x PubMedCrossRefGoogle Scholar
  27. Ringborg U, Pierotti M, Storme G, Tursz T (2008) Managing cancer in the EU: the Organisation of European Cancer Institutes (OECI). Eur J Cancer 44(6):772–773. doi: 10.1016/j.ejca.2008.01.012 PubMedCrossRefGoogle Scholar
  28. ScotlandsPeople (2007) Government of Scotland. Accessed 9 Mar 2007
  29. Stefansson K, Taylor J (2006) Iceland’s genealogy database. Circulation 114(1):F103–F104Google Scholar
  30. The Icelandic Cancer Society. Accessed 10 Feb 2010
  31. Þjóðskrá Accessed 2 Jan 2010
  32. Þjóðskrá—The National Registry (2007) Hagstofa Accessed 9 Mar 2007
  33. Thorsson B, Sigurdsson G, Gudnason V (2003) Systematic family screening for familial hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol 23(2):335–338PubMedCrossRefGoogle Scholar
  34. Tu SF, Mason CA (2004) Organizing population data into complex family pedigrees: application of a second-order data linkage to state birth defects registries. Birth Def Res A Clin Mol Teratol 70(9):603–608. doi: 10.1002/bdra.20070 CrossRefGoogle Scholar
  35. Tulinius H (2011) Multigenerational information: the example of the Icelandic Genealogy Database. Methods Mol Biol 675:221–229. doi: 10.1007/978-1-59745-423-0_11 PubMedCrossRefGoogle Scholar
  36. Wikipedia (2011) Imperial House of JapanGoogle Scholar

Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Vigdis Stefansdottir
    • 1
    • 7
  • Oskar Th. Johannsson
    • 2
  • Heather Skirton
    • 3
  • Laufey Tryggvadottir
    • 5
    • 7
  • Hrafn Tulinius
    • 6
  • Jon J. Jonsson
    • 1
    • 4
    • 6
    Email author
  1. 1.Department of Genetics and Molecular Medicine, LandspitaliThe National Univ. Hosp. of IcelandReykjavikIceland
  2. 2.Department of Medical Oncology, LandspitaliThe National Univ. Hosp. of IcelandReykjavikIceland
  3. 3.Faculty of Health, Education and SocietyPlymouth Univ.PlymouthUK
  4. 4.Department of Biochemistry and Molecular BiologyUniversity of IcelandReykjavikIceland
  5. 5.Icelandic Cancer RegistryReykjavikIceland
  6. 6.The Genetical Committee of the University of IcelandReykjavikIceland
  7. 7.Faculty of MedicineUniversity of IcelandReykjavikIceland

Personalised recommendations