A comparison of the detection of BRCA mutation carriers through the provision of Jewish population-based genetic testing compared with clinic-based genetic testing

Guidelines for genetic testing for BRCA1 or BRCA2 stipulate that a personal or family history of cancer is necessary to be eligible for testing. Approximately 2% of Ashkenazi Jewish women carry a mutation, but to date population-based testing has not been advocated. Little is known about the relativ...

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Bibliographic Details
Published in:British journal of cancer 2013-08, Vol.109 (3), p.777-779
Main Authors: METCALFE, K. A, POLL, A, ROYER, R, NANDA, S, LLACUACHAQUI, M, SUN, P, NAROD, S. A
Format: Article
Language:English
Subjects:
Adult
Age
Aged
Biological and medical sciences
Breast cancer
Breast Neoplasms - epidemiology
Breast Neoplasms - ethnology
Breast Neoplasms - genetics
Counseling
Epidemiology
Family medical history
Female
Genes, BRCA1
Genes, BRCA2
Genetic testing
Genetic Testing - methods
Genetic Testing - standards
Genetics
Germ-Line Mutation
Guideline Adherence
Humans
Jewish people
Jews - genetics
Medical research
Medical sciences
Middle Aged
Mutation
Ontario - epidemiology
Ovarian cancer
Ovarian Neoplasms - epidemiology
Ovarian Neoplasms - ethnology
Ovarian Neoplasms - genetics
Tumors
Womens health
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Summary:Guidelines for genetic testing for BRCA1 or BRCA2 stipulate that a personal or family history of cancer is necessary to be eligible for testing. Approximately 2% of Ashkenazi Jewish women carry a mutation, but to date population-based testing has not been advocated. Little is known about the relative yield of a conventional genetic testing programme versus a programme of widespread testing in a population with common founder mutations. We provided both referral-based and Jewish population-based testing between 2008 and 2012. We compared the numbers of BRCA mutation carriers identified through the two streams and estimated the number of genetic counselling hours devoted to each programme. From 2008 to 2012, 38 female carriers were identified through 487 referrals to our genetics centre (29 unaffected with cancer). During the same time, 6179 Jewish women were tested through our population-based programme and 93 mutation carriers were identified (92 unaffected with cancer). Fewer counsellor hours were devoted to the population-based than to the clinical referral-based testing programme. Genetic testing of all Jewish women above the age of 25 years will greatly expand the number of BRCA mutation carriers identified without a commensurate increase in the number of hours required for counselling.
ISSN:0007-0920
1532-1827
DOI:10.1038/bjc.2013.309