Are physician recommendations for BRCA1/2 testing in patients with breast cancer appropriate? A population-based study

Authors

  • Anne Marie McCarthy PhD,

    Corresponding author
    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
    • Corresponding author: Anne Marie McCarthy, PhD, University of Pennsylvania, 423 Guardian Dr, Room 1009, Philadelphia, PA 19104; Fax: (215) 573-8778; annemcc@mail.med.upenn.edu

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  • Mirar Bristol MS,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
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  • Tracey Fredricks BA,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
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  • Lache Wilkins BS,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
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  • Irene Roelfsema BSc,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
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  • Kaijun Liao PhD,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
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  • Judy A. Shea PhD,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
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  • Peter Groeneveld MD, MS,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
    2. Philadelphia Veterans Affairs Medical Center, Philadelphia, Pennsylvania
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  • Susan M. Domchek MD,

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
    2. University of Pennsylvania Abramson Cancer Center, Philadelphia, Pennsylvania
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  • Katrina Armstrong MD, MSCE

    1. Department of Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania
    2. University of Pennsylvania Abramson Cancer Center, Philadelphia, Pennsylvania
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Abstract

BACKGROUND

To the best of the authors' knowledge, few population-based studies to date have examined the use of BRCA1/2 testing or patterns of physician recommendations for genetic testing among women diagnosed with breast cancer. The objective of the current study was to evaluate the rates and predictors of physician recommendation for BRCA1/2 testing among patients with breast cancer.

METHODS

Women aged 18 years to 64 years who were diagnosed with invasive breast cancer in 2007 were identified from the Pennsylvania Cancer Registry and mailed a survey regarding their family history of cancer, physician treatment recommendations, and BRCA1/2 testing. Of the 4009 women who were sent surveys, 2258 responded (56%). Based on age at diagnosis and family history, women were categorized as being at high, moderate, or low risk of BRCA1/2 mutations.

RESULTS

Nearly 25% of the participants were classified as being at high risk of carrying a BRCA1/2 mutation based on their age at the time of breast cancer diagnosis and family history of breast and/or ovarian cancer. Physician recommendations for BRCA1/2 testing were found to be strongly associated with risk of carrying a mutation, with 53% of high-risk women reporting a testing recommendation compared with 9% of low-risk women. In addition, physician recommendations were strongly correlated with the use of testing in all risk groups. Among high-risk women, the lack of a recommendation for BRCA1/2 testing was more common among older, low-income, and employed women.

CONCLUSIONS

Although BRCA1/2 testing recommendations appear to be appropriately correlated with mutation risk, a significant percentage of patients with breast cancer who meet criteria for BRCA1/2 testing may not receive a recommendation for such testing from their health care providers. Cancer 2013;119:3596–3603. © 2013 American Cancer Society.

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