Literature DB >> 22806134

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

Vigdis Stefansdottir1, Oskar Th Johannsson, Heather Skirton, Laufey Tryggvadottir, Hrafn Tulinius, Jon J Jonsson.   

Abstract

UNLABELLED: 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.

Entities:  

Year:  2012        PMID: 22806134      PMCID: PMC3537967          DOI: 10.1007/s12687-012-0103-3

Source DB:  PubMed          Journal:  J Community Genet        ISSN: 1868-310X


  18 in total

1.  Towards a complete North American Anabaptist genealogy: A systematic approach to merging partially overlapping genealogy resources.

Authors:  R Agarwala; L G Biesecker; J F Tomlin; A A Schäffer
Journal:  Am J Med Genet       Date:  1999-09-10

2.  Accuracy of proband reported family history: the NHLBI Family Heart Study (FHS).

Authors:  J T Bensen; A D Liese; J T Rushing; M Province; A R Folsom; S S Rich; M Higgins
Journal:  Genet Epidemiol       Date:  1999       Impact factor: 2.135

3.  Identification and study of Utah pseudo-isolate populations-prospects for gene identification.

Authors:  L A Cannon-Albright; J M Farnham; A Thomas; N J Camp
Journal:  Am J Med Genet A       Date:  2005-09-01       Impact factor: 2.802

4.  Iceland's genealogy database.

Authors:  Jennifer Taylor
Journal:  Circulation       Date:  2006-07-04       Impact factor: 29.690

5.  Analysis of referrals to a multi-disciplinary breast cancer genetics clinic: practical and economic considerations.

Authors:  Marta M Reis; Dorothy Young; Lorna McLeish; David Goudie; Alan Cook; Frank Sullivan; Helen Vysny; Alison Fordyce; Roger Black; Manouche Tavakoli; Michael Steel
Journal:  Fam Cancer       Date:  2006-07-01       Impact factor: 2.375

6.  Accuracy of self-reported family history is strongly influenced by the accuracy of self-reported personal health status of relatives.

Authors:  A Cecile J W Janssens; Lidewij Henneman; Symone B Detmar; Muin J Khoury; Ewout W Steyerberg; Marinus J C Eijkemans; Nino Mushkudiani; Ben A Oostra; Cornelia M van Duijn; Johan P Mackenbach
Journal:  J Clin Epidemiol       Date:  2011-09-01       Impact factor: 6.437

Review 7.  The genealogic approach to human genetics of disease.

Authors:  J Gulcher; A Kong; K Stefansson
Journal:  Cancer J       Date:  2001 Jan-Feb       Impact factor: 3.360

8.  Impact of a cancer registry-based genealogy service to support clinical genetics services.

Authors:  David H Brewster; Alison Fordyce; Roger J Black
Journal:  Fam Cancer       Date:  2004       Impact factor: 2.375

Review 9.  Organizing population data into complex family pedigrees: application of a second-order data linkage to state birth defects registries.

Authors:  Shihfen Tu; Craig A Mason
Journal:  Birth Defects Res A Clin Mol Teratol       Date:  2004-09

10.  Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors.

Authors:  R L Bennett; K A Steinhaus; S B Uhrich; C K O'Sullivan; R G Resta; D Lochner-Doyle; D S Markel; V Vincent; J Hamanishi
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

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  6 in total

1.  Iceland-genetic counseling services.

Authors:  Vigdis Stefansdottir; Reynir Arngrimsson; Jon J Jonsson
Journal:  J Genet Couns       Date:  2013-08-15       Impact factor: 2.537

Review 2.  Ancestry Testing and the Practice of Genetic Counseling.

Authors:  Brianne E Kirkpatrick; Misha D Rashkin
Journal:  J Genet Couns       Date:  2016-10-04       Impact factor: 2.537

3.  Electronically ascertained extended pedigrees in breast cancer genetic counseling.

Authors:  V Stefansdottir; H Skirton; O Th Johannsson; H Olafsdottir; G H Olafsdottir; L Tryggvadottir; J J Jonsson
Journal:  Fam Cancer       Date:  2019-04       Impact factor: 2.375

4.  Inferring Transmission Histories of Rare Alleles in Population-Scale Genealogies.

Authors:  Dominic Nelson; Claudia Moreau; Marianne de Vriendt; Yixiao Zeng; Christoph Preuss; Hélène Vézina; Emmanuel Milot; Gregor Andelfinger; Damian Labuda; Simon Gravel
Journal:  Am J Hum Genet       Date:  2018-12-06       Impact factor: 11.025

5.  Counsellee's experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information.

Authors:  Vigdis Stefansdottir; Oskar Th Johannsson; Heather Skirton; Jon J Jonsson
Journal:  J Community Genet       Date:  2016-07-02

6.  Genomic imprinting analyses identify maternal effects as a cause of phenotypic variability in type 1 diabetes and rheumatoid arthritis.

Authors:  Inga Blunk; Hauke Thomsen; Norbert Reinsch; Manfred Mayer; Asta Försti; Jan Sundquist; Kristina Sundquist; Kari Hemminki
Journal:  Sci Rep       Date:  2020-07-14       Impact factor: 4.379

  6 in total

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