Skip to main content
SpringerLink
Log in

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

  • Review
  • Published:
Journal of Community Genetics Aims and scope Submit manuscript

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 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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  • 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):156–161

    Article  PubMed  CAS  Google Scholar 

  • Archives TN (1998) Data Protection Act 1998. London

  • 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):745–752

    PubMed  CAS  Google Scholar 

  • 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):141–150

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • Cannon Albright LA (2006) Computerized genealogies linked to medical histories for research and clinical care—a national view. AMIA Annu Symp Proc, 1161–1162

  • Cannon Albright LA (2008) Utah family-based analysis: past, present and future. Hum Hered 65(4):209–220

    Article  PubMed  Google Scholar 

  • 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

    Article  PubMed  CAS  Google Scholar 

  • Clark VBaV (2003) Using thematic analysis in psychology. Qual Res Psych 3:77–101

    Google Scholar 

  • Det Centrale Personregister CPR-kontoret. http://www.cpr.dk/cpr/.

  • Dissemination CfRa (2009) Systematic reviews

  • Ekbom A (2011) The Swedish Multi-Generation Register, vol 675. Methods Biobanking 675:215–220

    Article  Google Scholar 

  • 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, Galway

  • Folkeregisteret (2007) http://www.skatteetaten.no/Alt-om/Folkeregistrering/. Accessed 1 Feb 2010

  • 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

    Article  PubMed  Google Scholar 

  • Gulcher J, Kong A, Stefansson K (2001) The genealogic approach to human genetics of disease. Cancer J 7(1):61–68

    PubMed  CAS  Google Scholar 

  • Health SfP Critical Appraisal Skills Programme. Solutions for Public Health. http://www.sph.nhs.uk/sph-files/cohort%2012%20questions.pdf/?searchterm=casp. Accessed 12 Dec 2010

  • 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

    Article  PubMed  Google Scholar 

  • Jonsson JJ (2009) Genetics practice and research in a small country: lessons from Iceland. Pathology 1:2–3

    Article  Google Scholar 

  • Library HS Grey Literature. University of Ottawa. http://www.biblio.uottawa.ca/content-page.php?g=en&s=rgn&c=src-litgris. Accessed 1 Jul 2011

  • Minnesota Uo (2011) Minnesota Population Center. http://www.ipums.org/. Accessed January 2011

  • New FamilySearch (2007) Mormon Church of Utah. http://labs.familysearch.org/. Accessed 3 Sept 2007

  • 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. http://grants.nih.gov/grants/icelandic_research.pdf

  • Peyvandi F, Spreafico M (2008) National and international registries of rare bleeding disorders. Blood Transfus 6(Suppl 2):s45–s48

    PubMed  Google Scholar 

  • Population Registry Centre (2006) Population Registry Centre. http://stat.fi/til/vrm_en.html. Accessed 3 Sept 2010

  • 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

    Article  PubMed  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • ScotlandsPeople (2007) Government of Scotland. http://www.scotlandspeople.gov.uk/ Accessed 9 Mar 2007

  • Stefansson K, Taylor J (2006) Iceland’s genealogy database. Circulation 114(1):F103–F104

    Google Scholar 

  • The Icelandic Cancer Society. http://krabb.is/Um-felagid/icelandiccancersociety. Accessed 10 Feb 2010

  • Þjóðskrá http://www.skra.is/pages/1003. Accessed 2 Jan 2010

  • Þjóðskrá—The National Registry (2007) Hagstofa http://www.thjodskra.is/. Accessed 9 Mar 2007

  • Thorsson B, Sigurdsson G, Gudnason V (2003) Systematic family screening for familial hypercholesterolemia in Iceland. Arterioscler Thromb Vasc Biol 23(2):335–338

    Article  PubMed  CAS  Google Scholar 

  • 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

    Article  CAS  Google Scholar 

  • 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

    Article  PubMed  Google Scholar 

  • Wikipedia (2011) Imperial House of Japan

Download references

Author information

Authors and Affiliations

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

    Vigdis Stefansdottir & Jon J. Jonsson

  2. Department of Medical Oncology, Landspitali, The National Univ. Hosp. of Iceland, Reykjavik, Iceland

    Oskar Th. Johannsson

  3. Faculty of Health, Education and Society, Plymouth Univ., Plymouth, UK

    Heather Skirton

  4. Department of Biochemistry and Molecular Biology, University of Iceland, Reykjavik, Iceland

    Jon J. Jonsson

  5. Icelandic Cancer Registry, Reykjavik, Iceland

    Laufey Tryggvadottir

  6. The Genetical Committee of the University of Iceland, Reykjavik, Iceland

    Hrafn Tulinius & Jon J. Jonsson

  7. Faculty of Medicine, University of Iceland, Reykjavik, Iceland

    Vigdis Stefansdottir & Laufey Tryggvadottir

Authors
  1. Vigdis Stefansdottir
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Oskar Th. Johannsson
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Heather Skirton
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Laufey Tryggvadottir
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hrafn Tulinius
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jon J. Jonsson
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jon J. Jonsson.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Stefansdottir, V., Johannsson, O.T., Skirton, H. et al. The use of genealogy databases for risk assessment in genetic health service: a systematic review. J Community Genet 4, 1–7 (2013). https://doi.org/10.1007/s12687-012-0103-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12687-012-0103-3

Keywords

Search

Navigation