An audit of clinical service examining the uptake of genetic testing by at-risk family members

Purpose: The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. Methods: A clinical audit was undertaken using genetics files from G...

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Bibliographic Details
Published inGenetics in medicine Vol. 14; no. 1; pp. 122 - 128
Main Authors Forrest, Laura, Delatycki, Martin, Curnow, Lisette, Gen Couns, M., Skene, Loane, Aitken, MaryAnne
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 2012
Elsevier Limited
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Summary:Purpose: The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. Methods: A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. Results: The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. Conclusion: The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing. Genet Med 2012:14(1):122–128
Bibliography:ObjectType-Article-2
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ISSN:1098-3600
1530-0366
DOI:10.1038/gim.2011.3