Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer
Nilsson, Martin P. LU ; Winter, Christof LU ; Kristoffersson, Ulf LU ; Rehn, Martin LU ; Larsson, Christer LU ; Saal, Lao H. LU
and Loman, Niklas
LU
(2017)
In Familial Cancer
16(2).
p.187-193
- Abstract
Increasing evidence supports the benefit of identifying BRCA1 and BRCA2 germline mutations in early breast cancer. Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account. It is important to make a distinction between efficacy and effectiveness of BRCA testing criteria. Efficacy can be defined as the performance under ideal circumstances, whereas effectiveness refers to its real life performance. To allow for an unbiased and detailed evaluation of efficacy and effectiveness of the Swedish BRCA testing criteria, we retrospectively analyzed a prospectively collected cohort of 273 breast cancer patients from the well-characterized, population-based,... (More)
Increasing evidence supports the benefit of identifying BRCA1 and BRCA2 germline mutations in early breast cancer. Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account. It is important to make a distinction between efficacy and effectiveness of BRCA testing criteria. Efficacy can be defined as the performance under ideal circumstances, whereas effectiveness refers to its real life performance. To allow for an unbiased and detailed evaluation of efficacy and effectiveness of the Swedish BRCA testing criteria, we retrospectively analyzed a prospectively collected cohort of 273 breast cancer patients from the well-characterized, population-based, single-site All Breast Cancer in Malmö (ABiM) study. The patients were diagnosed with breast cancer during the years 2007 through 2009. Out of 20 mutation carriers identified, 13 fulfilled Swedish criteria at time of diagnosis. Thus, the efficacy of these criteria was 65%. Excluding three patients in whom a mutation was already known at time of diagnosis, only 3/17 had been identified in the clinical routine, corresponding to an effectiveness of 18%. Here we detail the reasons why mutation carriers in our cohort were not detected though routine health care. In conclusion, effectiveness of BRCA testing criteria was much lower than efficacy. Our results indicate that current testing criteria and procedures associated with BRCA1 and BRCA2 testing are insufficient. There is room for improvement of their efficacy, but even more so regarding effectiveness. Clinical BRCA testing routines need to be critically revised.
(Less)
- author
- Nilsson, Martin P.
LU
; Winter, Christof
LU
; Kristoffersson, Ulf
LU
; Rehn, Martin
LU
; Larsson, Christer
LU
; Saal, Lao H.
LU
and Loman, Niklas
LU
- organization
- publishing date
- 2017-04
- type
- Contribution to journal
- publication status
- published
- subject
- keywords
- BRCA1, BRCA2, Breast cancer, Effectiveness, Genetic testing, Testing criteria
- in
- Familial Cancer
- volume
- 16
- issue
- 2
- pages
- 187 - 193
- publisher
- Springer Science and Business Media B.V.
- external identifiers
-
- pmid:28120249
- wos:000398494700004
- scopus:85010809632
- ISSN
- 1389-9600
- DOI
- 10.1007/s10689-016-9953-x
- project
- Sweden Cancerome Analysis Network - Breast (SCAN-B): a large-scale multicenter infrastructure towards implementation of breast cancer genomic analyses in the clinical routine
- language
- English
- LU publication?
- yes
- id
- f434150d-c933-4495-b3ea-e0060c8fefc1
- date added to LUP
- 2017-02-14 14:18:02
- date last changed
- 2025-03-03 11:13:11
@article{f434150d-c933-4495-b3ea-e0060c8fefc1,
abstract = {{<p>Increasing evidence supports the benefit of identifying BRCA1 and BRCA2 germline mutations in early breast cancer. Selection of patients for genetic testing is based on defined criteria taking individual and family history related factors into account. It is important to make a distinction between efficacy and effectiveness of BRCA testing criteria. Efficacy can be defined as the performance under ideal circumstances, whereas effectiveness refers to its real life performance. To allow for an unbiased and detailed evaluation of efficacy and effectiveness of the Swedish BRCA testing criteria, we retrospectively analyzed a prospectively collected cohort of 273 breast cancer patients from the well-characterized, population-based, single-site All Breast Cancer in Malmö (ABiM) study. The patients were diagnosed with breast cancer during the years 2007 through 2009. Out of 20 mutation carriers identified, 13 fulfilled Swedish criteria at time of diagnosis. Thus, the efficacy of these criteria was 65%. Excluding three patients in whom a mutation was already known at time of diagnosis, only 3/17 had been identified in the clinical routine, corresponding to an effectiveness of 18%. Here we detail the reasons why mutation carriers in our cohort were not detected though routine health care. In conclusion, effectiveness of BRCA testing criteria was much lower than efficacy. Our results indicate that current testing criteria and procedures associated with BRCA1 and BRCA2 testing are insufficient. There is room for improvement of their efficacy, but even more so regarding effectiveness. Clinical BRCA testing routines need to be critically revised.</p>}},
author = {{Nilsson, Martin P. and Winter, Christof and Kristoffersson, Ulf and Rehn, Martin and Larsson, Christer and Saal, Lao H. and Loman, Niklas}},
issn = {{1389-9600}},
keywords = {{BRCA1; BRCA2; Breast cancer; Effectiveness; Genetic testing; Testing criteria}},
language = {{eng}},
number = {{2}},
pages = {{187--193}},
publisher = {{Springer Science and Business Media B.V.}},
series = {{Familial Cancer}},
title = {{Efficacy versus effectiveness of clinical genetic testing criteria for BRCA1 and BRCA2 hereditary mutations in incident breast cancer}},
url = {{http://dx.doi.org/10.1007/s10689-016-9953-x}},
doi = {{10.1007/s10689-016-9953-x}},
volume = {{16}},
year = {{2017}},
}