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PMID: 15138457 已发表 · ppublish 英语

BRCA1/2 predictive testing: a study of uptake in two centres.

European journal of human genetics : EJHG ·第 12 卷 ·第 8 期 ·2004-10-28

Brooks Lucy, Lennard Fiona, Shenton Andrew, Lalloo Fiona, Ambus Ingrid, Ardern-Jones Audrey, Belk Rachel, Kerr Bronwyn, Craufurd David, Eeles Rosalind, Gareth Evans D

摘要

Differences 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.

文献信息
期刊
European journal of human genetics : EJHG
期刊简称
Eur J Hum Genet
发表日期
2004-10-28
收录日期
2004-07-22
更新日期
2016-11-24
语言
英语
国家/地区
England
NLM ID
9302235
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