Rationale and Objectives
Pathogenic mutations in some genes elevate women's breast cancer risk, necessitating
risk-reduction strategies. Unfortunately, women are underscreened for cancer risk,
and when identified as potentially high risk, women seldom pursue genetic counseling
or testing. To improve cancer risk management, this project determined the feasibility
of radiology-operated, proactive, same-day risk assessment and genetic testing programs
to diagnose high-risk women undergoing breast imaging.
Materials and Methods
The Comprehensive Assessment, Risk & Education Program launched on June 5, 2019. Data
was tracked through July 22, 2020. Women undergoing breast imaging completed questionnaires
that calculated Tyrer-Cuzick risk and assessed genetic testing eligibility using National
Comprehensive Cancer Network criteria. To encourage eligible women's genetic testing
adherence, pretest counseling and saliva sample collection occurred that same day
in the imaging center. Samples were tested by a 34-multigene panel. Genetic counselors
called women with positive results. Women with negative results or variants of uncertain
significance were mailed notifications. Summary statistics were calculated.
Results
A total of 3345 women completed questionnaires. 1080 (32.3%) met genetic testing criteria.
468/1080 (43.3%) submitted genetic samples, and 416/1080 (38.5%) completed testing.
Of 416 completed tests, 269 (64.7%) tested negative, 109 (26.2%) had variants of uncertain
significance, and 38 (9.1%) diagnosed pathogenic mutations. 13/38 (34.2%) women with
pathogenic mutations implemented risk-reduction strategies at our institution.
Conclusion
Breast imaging centers can operate same-day cancer risk assessment and genetic testing
programs, identifying high-risk women that conventional risk assessment methods may
not have diagnosed. These proactive programs add value to radiology departments’ cancer
care beyond traditional imaging services.
Key Words
Abbreviations:
CARE (Comprehensive Assessment Risk & Education), MRI (magnetic resonance imaging), NCCN (National Comprehensive Cancer Network), PCPs (Primary care providers), TC (Tyrer-Cuzick), VUS (Variant of uncertain significance)To read this article in full you will need to make a payment
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Article Info
Publication History
Published online: December 16, 2020
Accepted:
December 8,
2020
Received in revised form:
December 7,
2020
Received:
October 28,
2020
Publication stage
In Press Corrected ProofFootnotes
Declarations of interest: none.
Identification
Copyright
© 2020 The Association of University Radiologists. Published by Elsevier Inc. All rights reserved.
