Understanding of BRCA VUS genetic results by breast cancer specialists
Understanding of BRCA VUS genetic results by breast cancer specialists
Background: mainstreaming genetic medicine, increased media coverage and clinical trials for BRCA mutation carriers are leading oncologists into more patient discussions about BRCA genetic testing. BRCA variants of uncertain significance (VUS) occur in 10-20% of tests. VUS detection introduces additional uncertainty for patient and potentially clinician. We aimed to explore the ability of breast cancer specialists (BCS) in the UK to correctly respond to a VUS report.
Methods: a survey sent to 800 UK BCS collected demographics data, VUS general knowledge and interpretation and communication based on two genetics reports. A separate survey of UK clinical geneticists collected demographics data, laboratory reporting practice and methods used to clarify VUS pathogenicity including classification systems.
Results: of the 155 BCS (22.5%) who completed the survey, 12% reported no genetics training. Ninety five percent referred patients for BRCA genetic tests, 71% felt unsure about the clinical implications of the test reports presented here. A VUS report from a patient with a positive family history was interpreted and theoretically communicated correctly by 94% but when presented with a different VUS report with no management guidance and negative family history, 39% did not know how to communicate this result to the patient. Geneticists reported multiple VUS classification systems; the most commonly used was word-based in 32%.
Conclusions: a consistent and standardised format to report particularly VUS results across all diagnostic laboratories plus additional training of UK BCS will be necessary for effective mainstreaming of BRCA testing to the oncology clinic.
Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Female, Genetic Testing, Genetic Variation, Health Knowledge, Attitudes, Practice, Humans, Middle Aged, Physicians, United Kingdom, Journal Article, Research Support, Non-U.S. Gov't
936
Eccles, B K
57ff1cdf-577d-421d-8f35-b12b8d1c2030
Copson, E
337c0f70-ac30-4341-9935-c08b0738e9af
Maishman, T
cf4259a4-0eef-4975-9c9d-a2c3d594f989
Abraham, J E
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Eccles, D M
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
25 November 2015
Eccles, B K
57ff1cdf-577d-421d-8f35-b12b8d1c2030
Copson, E
337c0f70-ac30-4341-9935-c08b0738e9af
Maishman, T
cf4259a4-0eef-4975-9c9d-a2c3d594f989
Abraham, J E
586c2425-520c-4b04-a92b-5858ea7a83ad
Eccles, D M
5b59bc73-11c9-4cf0-a9d5-7a8e523eee23
Eccles, B K, Copson, E, Maishman, T, Abraham, J E and Eccles, D M
(2015)
Understanding of BRCA VUS genetic results by breast cancer specialists.
BMC cancer, 15, .
(doi:10.1186/s12885-015-1934-1).
Abstract
Background: mainstreaming genetic medicine, increased media coverage and clinical trials for BRCA mutation carriers are leading oncologists into more patient discussions about BRCA genetic testing. BRCA variants of uncertain significance (VUS) occur in 10-20% of tests. VUS detection introduces additional uncertainty for patient and potentially clinician. We aimed to explore the ability of breast cancer specialists (BCS) in the UK to correctly respond to a VUS report.
Methods: a survey sent to 800 UK BCS collected demographics data, VUS general knowledge and interpretation and communication based on two genetics reports. A separate survey of UK clinical geneticists collected demographics data, laboratory reporting practice and methods used to clarify VUS pathogenicity including classification systems.
Results: of the 155 BCS (22.5%) who completed the survey, 12% reported no genetics training. Ninety five percent referred patients for BRCA genetic tests, 71% felt unsure about the clinical implications of the test reports presented here. A VUS report from a patient with a positive family history was interpreted and theoretically communicated correctly by 94% but when presented with a different VUS report with no management guidance and negative family history, 39% did not know how to communicate this result to the patient. Geneticists reported multiple VUS classification systems; the most commonly used was word-based in 32%.
Conclusions: a consistent and standardised format to report particularly VUS results across all diagnostic laboratories plus additional training of UK BCS will be necessary for effective mainstreaming of BRCA testing to the oncology clinic.
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art%3A10.1186%2Fs12885-015-1934-1
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Published date: 25 November 2015
Keywords:
Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Female, Genetic Testing, Genetic Variation, Health Knowledge, Attitudes, Practice, Humans, Middle Aged, Physicians, United Kingdom, Journal Article, Research Support, Non-U.S. Gov't
Identifiers
Local EPrints ID: 412395
URI: http://eprints.soton.ac.uk/id/eprint/412395
ISSN: 1471-2407
PURE UUID: b0b7f9ed-cff4-4375-ba41-e5a93cac7d04
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Date deposited: 17 Jul 2017 13:34
Last modified: 16 Mar 2024 02:39
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Author:
B K Eccles
Author:
E Copson
Author:
T Maishman
Author:
J E Abraham
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