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      ASO Author Reflections: Genetic Counseling, a Path to Testing

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      , MD , , MD, , MD, MSCR, FACS
      Annals of Surgical Oncology
      Springer International Publishing

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          Abstract

          Past The accessibility of genetic testing for breast cancer patients has dramatically changed over the past decade. In 2013, the Supreme Court ruled that genes were not patent eligible, which led to an open market for the development of commercialized genetic testing. In addition, the advent of next-generation sequencing has allowed for multigene panels and more economical testing. 1 High penetrance genes for breast cancer increase the likelihood of developing breast cancer by 5–20 times, and increased surveillance and management recommendations for these patients may have a significant impact. 2 Therefore, it is imperative that high-risk patients undergo genetic testing. Despite growing public awareness, increased availability of testing, and reduction in cost, disparities persist in rates of genetic testing. 3 Present To further understand what barriers exist that continue to impede uptake of genetic testing, we evaluated the rates of genetic counseling attendance and genetic testing for patients with a personal or family history of breast cancer. With an overall cohort attendance rate of nearly 50%, we found that black patients were significantly less likely to attend their genetic counseling appointment compared to white patients. Having a positive family history of breast cancer was a significant predictive factor for attendance regardless of race. Patients who were referred because of a significant family history (without a personal history of breast cancer) or a benign breast diagnosis were less likely to attend their counseling appointments. No socioeconomic factors were found to impact attendance rate. Once patients attended their genetic counseling appointment, 84% (n = 248) had genetic testing done. There were no significant factors associated with receipt of genetic testing in multivariate analysis. 4 Future Even with recent increases in genetic testing accessibility, we found that there continue to be racial disparities in genetic counseling attendance. However, disparities in genetic testing are not present once patients attend a genetic counseling appointment. This disappearance of racial disparities may be secondary to the education that is provided during the counseling appointment as the information provided may mitigate barriers, such as lack of knowledge about genetic testing and fear of discrimination. The barrier to the actual counseling appointment may be removed with point-of-care testing. Previous research has shown that point-of-care testing significantly improves rates of genetic testing, 5 as it removes the inconvenience of a second clinic visit. Future research studying point-of-care genetic testing and utilizing open-ended questionnaires may help to determine why some patients decline testing when known barriers are eliminated. The use of artificial intelligence in areas with a paucity of genetic counselors and medical providers may also off-set access barriers. We hope the results in the current study help institutions to expand point-of-care testing to mitigate racial disparities and bolster genetic testing rates for all patients.

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          Genetics of breast cancer: a topic in evolution.

          A hereditary predisposition to breast cancer significantly influences screening and follow-up recommendations for high-risk women. However, in patients with a suggestive personal and/or family history, a specific predisposing gene is identified in <30% of cases. Up to 25% of hereditary cases are due to a mutation in one of the few identified rare, but highly penetrant genes (BRCA1, BRCA2, PTEN, TP53, CDH1, and STK11), which confer up to an 80% lifetime risk of breast cancer. An additional 2%-3% of cases are due to a mutation in a rare, moderate-penetrance gene (e.g. CHEK2, BRIP1, ATM, and PALB2), each associated with a twofold increase in risk. Prediction models suggest that there are unlikely to be additional yet to be identified high-penetrance genes. Investigation of common, low-penetrance alleles contributing to risk in a polygenic fashion has yielded a small number of suggestive single-nucleotide polymorphisms (SNPs), but the contributive risk of an individual SNP is quite small. Mutation testing is currently recommended for individual genes in the appropriate clinical setting where there is a high index of suspicion for a specific mutated gene or syndrome. Next-generation sequencing offers a new venue for risk assessment. At the present time, there are clear clinical guidelines for individuals with a mutation in a high-penetrance gene. Otherwise, standard models are used to predict an individual's lifetime risk by clinical and family history rather than genomic information.
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            Racial disparities in BRCA testing and cancer risk management across a population-based sample of young breast cancer survivors.

            Breast cancer (BC) disparities may widen with genomic advances. The authors compared non-Hispanic white (NHW), black, and Hispanic BC survivors for 1) cancer risk-management practices among BRCA carriers and 2) provider discussion and receipt of genetic testing.
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              Breast cancer risk for noncarriers of family-specific BRCA1 and BRCA2 mutations: findings from the Breast Cancer Family Registry.

              Women with germline BRCA1 and BRCA2 mutations have five- to 20-fold increased risks of developing breast and ovarian cancer. A recent study claimed that women testing negative for their family-specific BRCA1 or BRCA2 mutation (noncarriers) have a five-fold increased risk of breast cancer. We estimated breast cancer risks for noncarriers by using a population-based sample of patients with breast cancer and their female first-degree relatives (FDRs).
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                Author and article information

                Contributors
                siegelju@musc.edu
                Journal
                Ann Surg Oncol
                Ann Surg Oncol
                Annals of Surgical Oncology
                Springer International Publishing (Cham )
                1068-9265
                1534-4681
                5 June 2024
                5 June 2024
                2024
                : 31
                : 8
                : 5207-5208
                Affiliations
                Department of Surgery, Medical University of South Carolina, ( https://ror.org/012jban78) Charleston, SC USA
                Article
                15561
                10.1245/s10434-024-15561-w
                11236871
                38836915
                9f052756-6a56-4dfa-a7e9-214d124fa362
                © The Author(s) 2024

                Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

                History
                : 14 May 2024
                : 15 May 2024
                Funding
                Funded by: Medical University of South Carolina
                Categories
                ASO Author Reflections
                Custom metadata
                © Society of Surgical Oncology 2024

                Oncology & Radiotherapy
                Oncology & Radiotherapy

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