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Showing content from https://pubmed.ncbi.nlm.nih.gov/37814187/ below:

Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making

. 2024 Jan;31(1):325-334. doi: 10.1245/s10434-023-14394-3. Epub 2023 Oct 9. Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making

Affiliations

¹ The Outer Banks Hospital, Nags Head, NC, USA. charles.shelton@ecuhealth.org.
² Carolina Surgical Care, Chesapeake, VA, USA.
³ The Outer Banks Hospital, Nags Head, NC, USA.
⁴ Invitae Corporation, San Francisco, CA, USA.

PMID: 37814187
PMCID: PMC10695880
DOI: 10.1245/s10434-023-14394-3

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Universal Germline-Genetic Testing for Breast Cancer: Implementation in a Rural Practice and Impact on Shared Decision-Making

Charles Shelton et al. Ann Surg Oncol. 2024 Jan.

. 2024 Jan;31(1):325-334. doi: 10.1245/s10434-023-14394-3. Epub 2023 Oct 9. Authors Charles Shelton¹, Antonio Ruiz², Lauren Shelton³, Hannah Montgomery³, Karen Freas³, Rachel E Ellsworth⁴, Sarah Poll⁴, Daniel Pineda-Alvarez⁴, Brandie Heald⁴, Edward D Esplin⁴, Sarah M Nielsen⁴ Affiliations

¹ The Outer Banks Hospital, Nags Head, NC, USA. charles.shelton@ecuhealth.org.
² Carolina Surgical Care, Chesapeake, VA, USA.
³ The Outer Banks Hospital, Nags Head, NC, USA.
⁴ Invitae Corporation, San Francisco, CA, USA.

PMID: 37814187
PMCID: PMC10695880
DOI: 10.1245/s10434-023-14394-3

Item in Clipboard

Abstract

Background: Whereas the National Comprehensive Cancer Network (NCCN) criteria restrict germline-genetic testing (GGT) to a subset of breast cancer (BC) patients, the American Society of Breast Surgeons recommends universal GGT. Although the yield of pathogenic germline variants (PGV) in unselected BC patients has been studied, the practicality and utility of incorporating universal GGT into routine cancer care in community and rural settings is understudied. This study reports real-world implementation of universal GGT for patients with breast cancer and genetics-informed, treatment decision-making in a rural, community practice with limited resources.

Methods: From 2019 to 2022, all patients with breast cancer at a small, rural hospital were offered GGT, using a genetics-extender model. Statistical analyses included Fisher's exact test, t-tests, and calculation of odds ratios. Significance was set at p < 0.05.

Results: Of 210 patients with breast cancer who were offered GGT, 192 (91.4%) underwent testing with 104 (54.2%) in-criteria (IC) and 88 (45.8%) out-of-criteria (OOC) with NCCN guidelines. Pathogenic germline variants were identified in 25 patients (13.0%), with PGV frequencies of 15 of 104 (14.4%) in IC and ten of 88 (11.4%) in OOC patients (p = 0.495). GGT informed treatment for 129 of 185 (69.7%) patients.

Conclusions: Universal GGT was successfully implemented in a rural, community practice with > 90% uptake. Treatment was enhanced or de-escalated in those with and without clinically actionable PGVs, respectively. Universal GGT for patients with breast cancer is feasible within rural populations, enabling optimization of clinical care to patients' genetic profile, and may reduce unnecessary healthcare, resource utilization.

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Figures
Fig. 1

Array of PGV ( N…

Fig. 1

Array of PGV ( N = 25) in patients who are in- or…

Fig. 1

Array of PGV (N = 25) in patients who are in- or out-of-criteria. Risk level defined by absolute/lifetime risk for cancer: High (> 50%), Moderate (20–50%), Undefined (undefined, potentially increased). The frequencies of high-and moderate-risk genes were higher in IC (40% and 47%) than OOC patients (20% for each class), although these differences did not reach significance (p = 0.70 high-risk, p = 0.10 moderate-risk)

Fig. 2

Changes in clinical management in…

Fig. 2

Changes in clinical management in response to GGT. Patients are grouped by gene…

Fig. 2

Changes in clinical management in response to GGT. Patients are grouped by gene and breast cancer risk. Two patients with PGV in BRCA2 and in NTHL1 had GGT completed after treatment and are not included in this figure. Of the 23 patients shown here, 22 (96.0%) had at least one change to clinical management, primarily related to their breast cancer diagnosis (escalated or de-escalated treatment depending on the breast cancer-related risk of the gene) but also related to screening for other cancers (e.g. colonoscopy for PMS2 and MUTYH carriers).

Fig. 3

Percentage of patients with changes…

Fig. 3

Percentage of patients with changes in clinical management based on return of GGT.…

Fig. 3

Percentage of patients with changes in clinical management based on return of GGT. Statistically significant differences between patients with PGV compared to those with VUS and negative results were detected for election of BLM, RR-BSO and clinical follow-up (p < 0.0001 for all comparisons after multiple testing correction).