Should All Survivors Undergo Genetic Screening? – A Review of a Breast Cancer Survivorship Program in the Bronx, NY
Cancer Genetics and Therapeutics
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Primary Categories:
- Cancer
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Secondary Categories:
- Cancer
Introduction:
Genetic testing can detect specific genetic pathogenic (P) or likely pathogenic (LP) variants associated with hereditary breast cancer. In 2019, the American Society of Breast Surgeons recommended that genetic testing be made available to all patients with a personal history of breast cancer. While this has not yet been adopted by all including ACMG, today most patients with a personal history of breast cancer are undergoing testing. The National Comprehensive Cancer Network (NCCN) has also expanded inclusion criteria. Many patients who today would be referred may not have undergone genetic consultation at time of diagnosis. While previous studies have examined adherence to NCCN guidelines for genetic testing in patients, this study serves to identify patients who may meet new expanded guidelines for genetic testing, as well as identify barriers to testing previously. With the complex patient population of a large urban community in the Bronx, it is important to understand patterns of genetic testing eligibility, completion, and results within our breast cancer survivor community. This information can aid survivors and families in understanding their options for surveillance and risk reduction.
Methods:
This is a retrospective review of breast cancer survivors in the Montefiore Einstein Comprehensive Cancer Center breast survivorship program from January 1, 2023 to December 31, 2023. Patients were at least 5 years from initial breast cancer diagnosis. Patients were analyzed for demographic features, genetic testing referral and results, as well as personal/family history of cancer.
Results:
551 patients were seen. Of these, 239 patients (43.4%) were previously referred to genetic counseling (113 (20.5%) within 1 year of initial cancer diagnosis), and 202 (84.5%) completed genetic counseling. Of patients who completed genetic testing, 15 (7.43%) were found to harbor pathogenic/likely pathogenic variants. 5 were found to have P/LP variants in BRCA1, and 3 with P/LP variants in BRCA2. Other P/LP variants were in: RAD51C (1), MRE11A (1), SMARCA4 (1), ATM (2), MUTYH (2). 35 patients declined genetic testing. Reasons for declining included failing to meet NCCN guidelines for testing at time of counseling (9), financial/insurability concerns (6), and burden of disease (3). Of patients who did not meet NCCN criteria at time of counseling, 2 patients meet 2024 NCCN guidelines for testing. Of 312 patients seen at the survivorship program who were not referred for genetic counseling around time of diagnosis, 54 (17.3%) meet 2024 NCCN criteria for testing based on age of diagnosis, 12 (3.85%) based on a family history of ovarian cancer, 6 (1.92%) based on a family history of pancreatic cancer, and 7 (2.24%) based on a family history of breast and/or prostate cancer.
Conclusion:
A large number of eligible patients were not referred, thereby identifying a need for medical professionals to continually evaluate genetic testing guidelines at routine visits. Likewise, survivorship programs should refer eligible patients for genetic testing if not previously referred upon presentation to the program. This is crucial for survivors who may not have been eligible at time of diagnosis but are now eligible based on current NCCN guidelines. Currently patients are offered a panel of genes responsible for hereditary breast cancer in addition to BRCA1/2, as opposed to limited gene panels in the past. Over time, patients’ genetic testing and insurance reimbursement may change, as well as family history. Identifying previously declining patients in survivorship programs who would benefit from genetic testing opens speculation to further studies examining evolving patient interest in genetic testing. We identified financial barriers due to lack of insurability, providing evidence for greater financial support. Future studies could examine other barriers and impact of genetic testing results on survivors' medical and mental health, as well as impacts on their families.
Genetic testing can detect specific genetic pathogenic (P) or likely pathogenic (LP) variants associated with hereditary breast cancer. In 2019, the American Society of Breast Surgeons recommended that genetic testing be made available to all patients with a personal history of breast cancer. While this has not yet been adopted by all including ACMG, today most patients with a personal history of breast cancer are undergoing testing. The National Comprehensive Cancer Network (NCCN) has also expanded inclusion criteria. Many patients who today would be referred may not have undergone genetic consultation at time of diagnosis. While previous studies have examined adherence to NCCN guidelines for genetic testing in patients, this study serves to identify patients who may meet new expanded guidelines for genetic testing, as well as identify barriers to testing previously. With the complex patient population of a large urban community in the Bronx, it is important to understand patterns of genetic testing eligibility, completion, and results within our breast cancer survivor community. This information can aid survivors and families in understanding their options for surveillance and risk reduction.
Methods:
This is a retrospective review of breast cancer survivors in the Montefiore Einstein Comprehensive Cancer Center breast survivorship program from January 1, 2023 to December 31, 2023. Patients were at least 5 years from initial breast cancer diagnosis. Patients were analyzed for demographic features, genetic testing referral and results, as well as personal/family history of cancer.
Results:
551 patients were seen. Of these, 239 patients (43.4%) were previously referred to genetic counseling (113 (20.5%) within 1 year of initial cancer diagnosis), and 202 (84.5%) completed genetic counseling. Of patients who completed genetic testing, 15 (7.43%) were found to harbor pathogenic/likely pathogenic variants. 5 were found to have P/LP variants in BRCA1, and 3 with P/LP variants in BRCA2. Other P/LP variants were in: RAD51C (1), MRE11A (1), SMARCA4 (1), ATM (2), MUTYH (2). 35 patients declined genetic testing. Reasons for declining included failing to meet NCCN guidelines for testing at time of counseling (9), financial/insurability concerns (6), and burden of disease (3). Of patients who did not meet NCCN criteria at time of counseling, 2 patients meet 2024 NCCN guidelines for testing. Of 312 patients seen at the survivorship program who were not referred for genetic counseling around time of diagnosis, 54 (17.3%) meet 2024 NCCN criteria for testing based on age of diagnosis, 12 (3.85%) based on a family history of ovarian cancer, 6 (1.92%) based on a family history of pancreatic cancer, and 7 (2.24%) based on a family history of breast and/or prostate cancer.
Conclusion:
A large number of eligible patients were not referred, thereby identifying a need for medical professionals to continually evaluate genetic testing guidelines at routine visits. Likewise, survivorship programs should refer eligible patients for genetic testing if not previously referred upon presentation to the program. This is crucial for survivors who may not have been eligible at time of diagnosis but are now eligible based on current NCCN guidelines. Currently patients are offered a panel of genes responsible for hereditary breast cancer in addition to BRCA1/2, as opposed to limited gene panels in the past. Over time, patients’ genetic testing and insurance reimbursement may change, as well as family history. Identifying previously declining patients in survivorship programs who would benefit from genetic testing opens speculation to further studies examining evolving patient interest in genetic testing. We identified financial barriers due to lack of insurability, providing evidence for greater financial support. Future studies could examine other barriers and impact of genetic testing results on survivors' medical and mental health, as well as impacts on their families.