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Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center

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Abstract

This study evaluated the impact of mainstreamed genetic testing (MGT) on the timing and uptake of testing in an academic breast surgeon’s practice. Before September 2019 (pre-MGT phase), a breast surgery practice at Massachusetts General Hospital followed a traditional model of a pre-test consultation with a genetic counselor (GC) following a referral. After September 2019 (post-MGT phase), the same practice offered patients genetic testing in a single clinical encounter with a breast surgeon. We evaluated the waiting time between referral and GC visit in the pre-MGT phase and compared the uptake and positivity rates between both phases. In the pre-MGT phase (204 patients), the median waiting time for GC visit was seven days for patients with a newly diagnosed cancer, 211 days for patients with a personal history of cancer, and 224 days for non-cancer patients who had a family history. A total of 105 (51.5%) patients completed a GC appointment. In the post-MGT phase (202 patients), a significantly higher proportion of patients (88.1%, p < 0.001) consented to genetic testing, while the proportion of patients who tested positive was lower (pathogenic variant: 11.9% vs. 20.0%; variant of uncertain significance: 19.9% vs. 28.0%; p = 0.047). Implementing MGT can reduce the number of clinical visits, significantly shorten patients’ wait time to test initiation, and increase the completion of genetic testing. Successful integration of this model relied on the genetic expertise of the breast surgeon involved and the support of the GC team.

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Funding

This study received no specific funding.

Author information

Author notes

  1. Teresa S. Chai and Kanhua Yin have contributed equally to this work.

  2. Kristen M. Shannon and Kevin S. Hughes shares senior authorship.

Authors and Affiliations

  1. Center for Cancer Risk Assessment, Massachusetts General Hospital Cancer Center, Boston, MA, USA

    Teresa S. Chai, Mackenzie Wooters & Kristen M. Shannon

  2. Division of Surgical Oncology, Massachusetts General Hospital, Boston, MA, USA

    Kanhua Yin

  3. Division of Oncologic & Endocrine Surgery, Department of Surgery, Medical University of South Carolina, 30 Courtenay Drive, Ste. 246 MSC 295, Charleston, SC, 29425, USA

    Kevin S. Hughes

Authors
  1. Teresa S. Chai
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  2. Kanhua Yin
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  4. Kristen M. Shannon
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  5. Kevin S. Hughes
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Contributions

KMS and KSH were involved in the conceptualization and design of this study. TSC, KY, and MW collected and analyzed the data. TSC and KY drafted the initial manuscript with critical feedback from MW, KMS, and KSH. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Kevin S. Hughes.

Ethics declarations

Competing interests

Dr. Kevin S. Hughes receives honoraria from Hologic (Surgical implant for radiation planning with breast conservation and wire-free breast biopsy), TME (Targeted Medical Education, genetics education and consulting), MedNeon (Genetics education company), and Myriad Genetics. Dr. Hughes has a financial interest in CRA Health (Formerly Hughes RiskApps) which was recently acquired by Volpara. CRA Health develops risk assessment models/software with a particular focus on breast cancer and colorectal cancer. Dr. Hughes is the founder of the company. Dr. Hughes is the Co-Creator of Ask2Me.Org which is freely available for clinical use and is licensed for commercial use by the Dana Farber Cancer Institute and the Massachusetts General Hospital. Dr. Hughes’s interests in CRA Health and Ask2Me.Org were reviewed and are managed by Massachusetts General Hospital and Partners Health Care in accordance with their conflict-of-interest policies. The other authors declare that they have no conflict of interest.

Ethical approval

This project was a quality improvement project following the Standards for Quality Improvement Reporting Excellence (SQUIRE) reporting guideline and therefore was exempt from Institutional Review Board approval.

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Chai, T.S., Yin, K., Wooters, M. et al. Mainstreamed genetic testing of breast cancer patients: experience from a single surgeon’s practice in a large US Academic Center. Familial Cancer 22, 467–474 (2023). https://doi.org/10.1007/s10689-023-00342-3

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  • DOI: https://doi.org/10.1007/s10689-023-00342-3

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