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dc.contributor.authorBrooks, Lucy
dc.contributor.authorLennard, Fiona
dc.contributor.authorShenton, Andrew
dc.contributor.authorLalloo, Fiona
dc.contributor.authorAmbus, Ingrid
dc.contributor.authorArdern-Jones, Audrey
dc.contributor.authorBelk, Rachel
dc.contributor.authorKerr, Bronwyn
dc.contributor.authorCraufurd, David
dc.contributor.authorEeles, Rosalind
dc.contributor.authorEvans, D Gareth R
dc.date.accessioned2009-08-20T12:57:40Z
dc.date.available2009-08-20T12:57:40Z
dc.date.issued2004-08
dc.identifier.citationBRCA1/2 predictive testing: a study of uptake in two centres. 2004, 12 (8):654-62 Eur. J. Hum. Genet.en
dc.identifier.issn1018-4813
dc.identifier.pmid15138457
dc.identifier.doi10.1038/sj.ejhg.5201206
dc.identifier.urihttp://hdl.handle.net/10541/78033
dc.description.abstractDifferences in reported uptake of genetic testing for mutations in BRCA1 and BRCA2 can largely be accounted for by different methodologies and by studying research vs nonresearch families. In our joint study of 75 nonresearch families from two UK centres in which at least 3 years had elapsed since the initial proband had been informed of the availability of testing, only 45 and 34% of eligible individuals from Manchester and London, respectively, had come forward for counselling. Final uptake rates using a non-proactive approach were 53 and 29% for women and 11-12% for men, but the figure among those attending clinic was 73 and 62%, respectively. Unlike previous studies, we did not find that uptake had stabilised after a year with 25% of those being tested more than 2 years after the family was informed, and several delaying a considerable time between genetics appointments. We believe that the particularly low uptake even of counselling in men may need to be addressed by improving family communication or providing information sheets for family members to disseminate.
dc.language.isoenen
dc.subject.meshFemale
dc.subject.meshGenes, BRCA1
dc.subject.meshGenes, BRCA2
dc.subject.meshGenetic Counseling
dc.subject.meshGenetic Screening
dc.subject.meshGreat Britain
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMutation
dc.subject.meshPedigree
dc.subject.meshTime Factors
dc.titleBRCA1/2 predictive testing: a study of uptake in two centres.en
dc.typeArticleen
dc.contributor.departmentAcademic Unit of Medical Genetics and Regional Genetics Service, St Mary's Hospital, Manchester M13 0JH, UK.en
dc.identifier.journalEuropean Journal of Human Geneticsen
html.description.abstractDifferences in reported uptake of genetic testing for mutations in BRCA1 and BRCA2 can largely be accounted for by different methodologies and by studying research vs nonresearch families. In our joint study of 75 nonresearch families from two UK centres in which at least 3 years had elapsed since the initial proband had been informed of the availability of testing, only 45 and 34% of eligible individuals from Manchester and London, respectively, had come forward for counselling. Final uptake rates using a non-proactive approach were 53 and 29% for women and 11-12% for men, but the figure among those attending clinic was 73 and 62%, respectively. Unlike previous studies, we did not find that uptake had stabilised after a year with 25% of those being tested more than 2 years after the family was informed, and several delaying a considerable time between genetics appointments. We believe that the particularly low uptake even of counselling in men may need to be addressed by improving family communication or providing information sheets for family members to disseminate.


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