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BACKGROUND: The National Accreditation Program for Breast Cancer (NAPBC) standards were recently revised to promote breast cancer (BC) risk assessment and subsequent referral for high-risk services. This project sought to estimate the proportion of patients at high risk for BC in the authors' safety-net hospital system, gauge patient interest in high-risk services, and define resources for program development. METHODS: Women presenting for breast imaging during 2 weeks in 2023 were surveyed. Thirty-five patients with a history or diagnosis of BC were excluded. The Tyrer-Cuzick (TC) model version 8 was used to calculate BC risk. High/intermediate risk was defined as a 10-year risk of 5% or more, a lifetime risk of 15% or more, or both. The criteria for genetic counseling and testing referral were based on National Comprehensive Cancer Network guidelines. RESULTS: A total of 257 patients had a TC risk assessment showing 14.8% (n = 38) with a 10-year BC risk of 5% or more (consideration of endocrine therapy), 6.2% (n = 16) with a lifetime BC risk of 20% or more (qualifying for annual screening MRI), and 10.5% (n = 27) with a lifetime BC risk of 15% or more (consideration of high-risk screening). The criteria for genetic counseling/testing were met by 61 (23.7%) of the 257 patients. Overall, 31.5% (n = 81) qualified for high/intermediate-risk screening, risk reduction, and/or genetic assessment/testing, 92.8% of whom were interested in referrals for additional information and care. CONCLUSIONS: In the authors' community, almost one third of patients undergoing breast imaging qualify for BC high-risk assessment and services. The majority of the patients expressed interest in pursuing such services. These data will be used in financial planning and resource allocation to develop a high-risk program at the authors' institution in line with NAPBC guidelines. They are hopeful that these efforts will improve oncologic outcomes and survival from BC in their community.
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OBJECTIVES: To ascertain the rate of unexpected findings on carrier screening (CS) and assess whether implications are disclosed to patients. METHODS: We performed a retrospective observational study of subjects who had CS after pre-test counseling from a licensed genetic counselor at a large tertiary care center. We quantified the rate of unexpected finding on CS, defined as manifesting carriers (MCs), genotypes predicting phenotype, and chromosome abnormalities. We determined how often patients were informed of implications. We performed subgroup analyses by type of unexpected finding and calculated odds ratios (OR) and 95% confidence intervals (CI) for carrier testing methodology (genotype) and number of genes tested. RESULTS: A total of 4685 patients had CS over the selected time frame. Of those patients, 412 patients (8.8%) had one unexpected finding and 29 patients (0.6%) had two or more findings. In total, 466 unexpected findings were identified, including 437 MC conditions, 23 genotypes predicting phenotype, and 6 chromosome abnormalities. Patients were informed of the implications for MCs, genotypes predicting phenotype, and chromosome abnormalities in 27.6%, 91.3%, and 100% of cases, respectively. More unexpected findings were detected with sequencing compared to genotyping (OR 2.21 and 95% CI 1.76-2.76) and with ≥200 gene panels compared to <200 gene panels (OR 1.79 and 95% CI 1.47-2.17). CONCLUSION: This study highlights that nondisclosure of unexpected findings on CS is common and underscores the need for further research to improve post-test counseling and follow-up.