Congratulations to Kelsey Rice, PGY-2, third place winner of the 2025 Namey/Burnett Award. Sponsored by the ACOFP Foundation, with winners selected by the ACOFP Health & Wellness Committee, the Namey/Burnett Preventive Medicine Writing Award honors the memory of Joseph J. Namey, DO, FACOFP, and John H. Burnett, DO, FACOFP—dedicated advocates for osteopathic medicine—and recognizes the best preventive medicine blog posts submitted by osteopathic family medicine students and residents.

Breast cancer is one of the most common cancers in women in the United States, affecting approximately 1 out of 8 women. The incidence rates have increased by 0.6% per year with the death rates decreasing since 1989, due to increased screening, detection, and treatments available.1 Approximately 10% of newly diagnosed cases of breast cancer in the United States are affecting women younger than 45 years old. These types of cases tend to be hereditary in nature and are more likely to be found at a later stage when the cancer is more aggressive and complicated to treat2. Patients with germline mutations of the Breast Cancer gene 1 and 2, also known as BRCA 1 and 2, are at increased risk for not only breast cancer but ovarian cancer as well. BRCA 1 and 2 are inherited in an autosomal dominant fashion with patients having a 50% chance of inheriting a mutated or pathogenic variant from their parents.3 Over 60% of women with a pathogenic BRCA mutation will develop breast cancer in their lifetime, as well as be at increased risk of developing cancer of the contralateral breast in the future.4,5 Approximately 30 out of 100 women with a BRCA mutation will also develop ovarian cancer prior to the age of 70, compared to 1 out of 100 women in the general population6. Annual breast mammography and biannual breast MRI starting at age 25 in known BRCA 1 carriers have shown significant improvements in early detection of breast cancer7. Therefore, early identification of germline mutations is important in women as it will allow for earlier preventative surveillance and discussions on possible prophylactic treatment.

Currently, the United States Preventive Services Task Force (USPSTF) recommends primary care physicians assess women with a known personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have a known history of the BRCA 1 or 2 mutations using a validated familial risk assessment tool.8 Women who screen positive should be directed to genetic counseling and be offered further testing if indicated and desired. Unfortunately, many women who meet the criteria for referral to a geneticist, especially with limiting social determinants of health, are either not identified by the physician or do not attend due to varying factors, such as low perceived risk.9-12 Primary care physicians are uniquely positioned to increase better awareness, screening, and genetic referrals for hereditary breast and ovarian cancer (HBOC) as they collect and review the patient’s family history annually during wellness visits.13 Osteopathic family medicine physicians especially have unique skills due to our osteopathic tenets. By focusing on the patient as a whole and providing holistic care, osteopaths can collect personal and family histories while considering socioeconomic factors and cultural beliefs that could influence patient’s decisions regarding their care.20 There are numerous validated familial risk assessment tools available for use to better establish patients’ risk of germline mutations. The USPSTF recommends assessments including the Ontario Family History Assessment Tool, Manchester Scoring System, Referral Screening Tool, Pedigree Assessment Tool, 7-Question Family History Screening Tool, International Breast Cancer Intervention Study instrument (Tyrer-Cuzick), and brief versions of BRCAPRO8. As of now, the USPSTF has insufficient evidence to recommend one tool over another.14

Several studies have examined the feasibility of incorporating genetic screening tools into community health practices. Hoskins et al. (2018) demonstrated that genetic screening for HBOC can be completed in a Federally Qualified Health Center, with 100% of the participants completing their assessment prior to being seen by their primary care provider and a mean time to completion of 2-3 minutes. However, the study was unable to assess predictors of adherence to guideline-recommended care. Other studies have shown that some assessment tools may not be the best fit in primary care. A study reviewing breast cancer assessment use in primary care found that models that require extensive information from the patient regarding their personal and family history, like the BRCAPRO, were not feasible without being separated into a two-part system, with the second part being administered at the geneticist’s office.18 Other identified limitations to implementing these screening tools included the level of resources dedicated for implementation by the clinic, participants' attitudes and values, barriers to facilitation and referral, and culturally relevant factors to participant groups.14 Physicians themselves may find they lack the ability to convey the risk of HBOC, the time to assess patients, and have inaccurate family histories due to low health literacy and language barriers.11,12,20 While some validated tools lack smooth integration into primary care settings, Bowen et al. (2023) found that when presented with all five validated options, most community health sites favored screening tools with specific questions, no required scoring, and that were shorter in duration. These included the Family History Screen 7 (FHS-7) and the Referral Screening Tool (RST). The FHS-7 was able to be successfully utilized in community health clinics despite the above limitations.14

While breast cancer death rates have decreased since 1989, approximately 10% of newly diagnosed cases are in women less than 45 years old, frequently due to a hereditary component.1,2 The United States Preventive Services Task Force (USPSTF) recommends primary care physicians screen women using a validated familial risk assessment tool, with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have a known history of Breast Cancer gene (BRCA) 1 or 2.8 There are several validated tools recommended by the USPSTF that have shown accuracy in detecting these germline mutations.8,15 Several studies have been conducted to assess the practicality of integrating these tools into community health care and primary care practices. Success was seen with shorter, less complex assessments and utilization of technology-enabled approaches to allow completion in a matter of minutes.14,17 While there will still be limitations to incorporating tools such as participants' attitudes, cultural factors, and lack of time during the appointment for evaluation, genetic risk assessment and possible subsequent genetic counseling can allow patients to make informed decisions regarding screening and prophylactic measures.14,21 As of January 2025, the USPSTF recommendation regarding BRCA-related cancer screening is being revised and updated from the original 2019 recommendation.8 These revisions may reflect the aforementioned increase in the incidence of hereditary breast and ovarian cancer and improved genetic counseling. The final statement may further encourage primary care physicians to screen their patients. Overall, primary care physicians should seek to implement one of the five USPSTF-validated and recommended hereditary breast and ovarian cancer screening tools to help identify patients who would benefit from genetic counseling, testing for germline mutations, and more preventative surveillance measures.7,8,21

References

  1. American Cancer Society. Breast cancer statistics: How common is breast cancer? Breast Cancer Statistics | How Common Is Breast Cancer? | American Cancer Society. January 17, 2024. https://www.cancer.org/cancer/types/breast-cancer/about/how-common-is-breast-cancer. html#:~:text=Overall%2C%20the%20average%20risk%20of,will%20never%20have%20t he%20disease.
  2. Breast cancer in Young Women. Centers for Disease Control and Prevention. September 24, 2024.https://www.cdc.gov/bring-your-brave/breast-cancer-in-young-women/index.html#.
  3. Petrucelli N, Daly MB, Pal T. BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; September 4, 1998.
  4. Daly MB, Pal T, Berry MP, et al. Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology. J Natl Compr Canc Netw. 2021;19(1):77-102. Published 2021 Jan 6. doi:10.6004/jnccn.2021.0001
  5. Yadav S, Boddicker NJ, Na J, et al. Contralateral Breast Cancer Risk Among Carriers of Germline Pathogenic Variants in ATM, BRCA1, BRCA2, CHEK2, and PALB2. J Clin Oncol. 2023;41(9):1703-1713. doi:10.1200/JCO.22.01239
  6. What causes hereditary breast and ovarian cancers. Centers for Disease Control and Prevention. August 28, 2024. https://www.cdc.gov/breast-ovarian-cancer-hereditary/causes/index.html.
  7. Franceschini G, Di Leone A, Terribile D, Sanchez MA, Masetti R. Bilateral prophylactic mastectomy in BRCA mutation carriers: what surgeons need to know. Ann Ital Chir. 2019;90:1-2.
  8. US Preventive Services Task Force, Owens DK, Davidson KW, et al. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer: US Preventive Services Task Force Recommendation Statement [published correction appears in JAMA. 2019 Nov 12;322(18):1830. doi: 10.1001/jama.2019.17850]. JAMA. 2019;322(7):652-665. doi:10.1001/jama.2019.10987
  9. Willis AM, Smith SK, Meiser B, Ballinger ML, Thomas DM, Young MA. Sociodemographic, psychosocial and clinical factors associated with uptake of genetic counselling for hereditary cancer: a systematic review. Clin Genet. 2017;92(2):121-133. doi:10.1111/cge.12868
  10. McGuinness JE, Trivedi MS, Vanegas A, et al. Decision support for family history intake to determine eligibility for brca testing among multiethnic women. Journal of Clinical Oncology. 2017;35(15_suppl):1586-1586. doi:10.1200/jco.2017.35.15_suppl.1586
  11. Kukafka R, Pan S, Silverman T, et al. Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care: A Cluster Randomized Clinical Trial. JAMA Netw Open. 2022;5(7):e2222092. Published 2022 Jul 1. doi:10.1001/jamanetworkopen.2022.22092
  12. Nair N, Bellcross C, Haddad L, et al. Georgia Primary Care Providers' Knowledge of Hereditary Breast and Ovarian Cancer Syndrome. J Cancer Educ. 2017;32(1):119-124. doi:10.1007/s13187-015-0950-9
  13. Nye L. Integrating Breast Cancer Risk Management into Primary Care. Am Fam Physician. 2020;101(6):330-331.
  14. Bowen A, Gómez-Trillos S, Curran G, et al. Advancing health equity: A qualitative study assessing barriers and facilitators of implementing hereditary breast and ovarian cancer risk screening tools in community-based organizations. J Genet Couns. 2023;32(5):965-981. doi:10.1002/jgc4.1705
  15. Nelson HD, Pappas M, Cantor A, Haney E, Holmes R. Risk Assessment, Genetic Counseling, and Genetic Testing for BRCA-Related Cancer in Women: Updated Evidence Report and Systematic Review for the US Preventive Services Task Force. JAMA. 2019;322(7):666-685. doi:10.1001/jama.2019.8430
  16. Hoskins KF, Tejeda S, Vijayasiri G, et al. A feasibility study of breast cancer genetic risk assessment in a federally qualified health center. Cancer. 2018;124(18):3733-3741. doi:10.1002/cncr.31635
  17. Biswas S, Atienza P, Chipman J, et al. A two-stage approach to genetic risk assessment in primary care. Breast Cancer Res Treat. 2016;155(2):375-383. doi:10.1007/s10549-016-3686-2
  18. Yi H, Xiao T, Thomas PS, et al. Barriers and Facilitators to Patient-Provider Communication When Discussing Breast Cancer Risk to Aid in the Development of Decision Support Tools. AMIA Annu Symp Proc. 2015;2015:1352-1360. Published 2015 Nov 5.
  19. Yoshida R. Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer. 2021;28(6):1167-1180. doi:10.1007/s12282-020-01148-2
  20. Zegarra-Parodi R, Baroni F, Lunghi C, Dupuis D. Historical Osteopathic Principles and Practices in Contemporary Care: An Anthropological Perspective to Foster
  21. Evidence-Informed and Culturally Sensitive Patient-Centered Care: A Commentary. Healthcare (Basel). 2022;11(1):10. Published 2022 Dec 21. doi:10.3390/healthcare11010010
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