Breast Cancer: Current Research
Open Access

BRCA testing; Underuse; Breast cancer; Ovarian cancer; Inherited mutations; Risk assessment

Introduction

In recent decades, significant advancements in our understanding of the genetic underpinnings of cancer have revolutionized oncology, allowing for more precise diagnosis, targeted therapies, and improved patient outcomes. Among the genes associated with hereditary susceptibility to breast and ovarian cancers, BRCA1 and BRCA2 hold a prominent place due to their vital roles in DNA repair and maintenance of genomic stability. Inherited mutations in these genes substantially increase the lifetime risk of developing breast and ovarian cancers, necessitating proactive management strategies for at-risk individuals [1]. One such strategy is the utilization of BRCA testing, which enables the identification of pathogenic mutations and informs clinical decisions regarding risk assessment, surveillance, and treatment. However, despite the well-established benefits of BRCA testing, a significant proportion of eligible patients with breast and ovarian cancer still do not undergo genetic testing. This underuse of BRCA testing presents a concerning gap in the provision of personalized and evidence-based care, potentially depriving patients of the advantages that early detection and tailored interventions can offer [2 ]. Moreover, missed opportunities for identifying familial cancer risks through testing may impact not only the index patients but also their families, who could benefit from genetic counseling and early preventive measures. This paper seeks to examine the persistent underuse of BRCA testing in patients diagnosed with breast and ovarian cancer, delve into the factors contributing to this underutilization, and discuss potential consequences for patient outcomes. By shedding light on the multidimensional aspects of this issue, we aim to highlight the urgency of addressing the gap between established clinical guidelines and realworld practice. Ultimately, we intend to contribute to the ongoing dialogue about improving the integration of genetic testing into cancer care and advocating for the adoption of strategies that ensure equitable access to BRCA testing, thereby maximizing its potential benefits for patients and their families [3].

Discussion

The underuse of BRCA testing among patients with breast and ovarian cancer is a complex and multifaceted issue with far-reaching implications for patient care and outcomes. This section delves into the factors contributing to this underutilization and explores its potential consequences, while also suggesting strategies to bridge the gap between current practice and optimal care [4].

Socioeconomic barriers: Socioeconomic factors play a pivotal role in the underuse of BRCA testing. Limited access to healthcare facilities, lack of insurance coverage, and financial constraints can deter patients from pursuing genetic testing. Additionally, disparities in healthcare access and awareness can disproportionately affect underserved populations, leading to missed opportunities for identifying hereditary cancer risks.

Knowledge and awareness: Both patients and healthcare providers may lack sufficient awareness about the importance of BRCA testing, especially for individuals without a strong family history of cancer. Educational campaigns targeting patients and medical professionals are essential to increase understanding of the benefits of testing, the relevance of genetic counseling, and the potential impact on treatment decisions [5].

Psychological and emotional factors: The prospect of undergoing genetic testing can evoke anxiety, fear, and uncertainty among patients. Concerns about potential implications for family members, psychological distress upon receiving positive results, and the perceived stigma associated with genetic testing can contribute to patients’ reluctance to pursue testing.

Provider practices and guidelines: Variability in healthcare provider practices can influence the rates of BRCA testing. Lack of familiarity with guidelines, uncertainty about appropriate candidates for testing, and concerns about patient distress may contribute to suboptimal testing rates. Implementing standardized protocols and decision support tools can assist providers in identifying suitable candidates for testing.

Ethical and legal concerns: Concerns related to the privacy and confidentiality of genetic information can impact patients’ decisions to undergo testing. Ensuring robust privacy protections and adherence to ethical guidelines is crucial to alleviate these concerns and build patient trust in the testing process [6].

Implications for patient outcomes: The underuse of BRCA testing can have profound consequences for patient outcomes. Failure to identify hereditary mutations limits the implementation of riskreduction strategies, including increased surveillance and prophylactic interventions. This oversight could result in missed opportunities for early cancer detection and potentially more aggressive treatments in the absence of accurate risk assessment.

Strategies for Improvement: To address the underuse of BRCA testing, a comprehensive approach is necessary. This includes increasing awareness through public education campaigns, expanding insurance coverage for genetic testing, providing genetic counseling services, and enhancing provider training on appropriate testing criteria. Telemedicine and digital health platforms can also play a role in widening access to genetic services, particularly in underserved areas [7].

Conclusion

The underuse of BRCA testing in patients with breast and ovarian cancer represents a critical gap in the landscape of modern oncology. As our understanding of the genetic basis of cancer continues to expand, harnessing this knowledge for the benefit of patients becomes paramount. This study has shed light on the various factors contributing to the underutilization of BRCA testing, ranging from socioeconomic barriers and knowledge gaps to psychological concerns and healthcare provider practices. Furthermore, collaborations between healthcare providers, genetic counselors, patient advocacy groups, and policymakers are essential to facilitate informed decision-making and provide comprehensive support for individuals undergoing testing. Telemedicine and digital health innovations can expand the reach of genetic services, especially to underserved populations. In conclusion, the underuse of BRCA testing is a complex issue with wide-ranging implications for cancer care. By addressing the barriers that hinder the adoption of genetic testing, we can empower patients, improve risk assessment, and enable tailored interventions. As the field of oncology continues to evolve, integrating genetic testing into routine practice is not just a scientific imperative, but a compassionate commitment to improving the lives of those at risk of hereditary breast and ovarian cancers.

Conflict of Interest

None

Acknowledgment

None

1. Koulis TA, Phan T, Olivotto IA (2015) Hypofractionated whole breast radiotherapy: current perspectives. Breast Cancer (Dove Med Press) 7: 363-370.

Indexed at, Google Scholar, Crossref

2. Kim KS, Shin KH, Choi N, Lee SW (2016) Hypofractionated whole breast irradiation: new standard in early breast cancer after breast-conserving surgery. Radiat Oncol J 34: 81-87.

Indexed at, Google Scholar, Crossref

3. Fernanda F Zimmermann, Beverley Burrell, Jennifer (2022) Jordan Patients’ experiences of a mindfulness intervention for adults with advanced cancer: a qualitative analysis 28: 4911-4921.

Indexed at, Google Scholar, Crossref

4. Haviland JS, Owen JR, Dewar JA, Agrawal RK, Barrett J, et al. (2013) The UK Standardisation of Breast Radiotherapy (START) trials of radiotherapy hypofractionation for treatment of early breast cancer: 10-year follow-up results of two randomised controlled trials. Lancet Oncol 14: 1086-1094.

Indexed at, Google Scholar, Crossref

5. Coles CE, Griffin CL, Kirby AM, Titley J, Agrawal RK, et al. (2017) Partial-breast radiotherapy after breast conservation surgery for patients with early breast cancer (UK IMPORT LOW trial): 5-year results from a multicentre, randomised, controlled, phase 3, non-inferiority trial. Lancet 390: 1048-1060.

Indexed at, Google Scholar, Crossref

6. Giuliano AE, Ballman KV, McCall L, Beitsch PD, Brennan MB, et al. (2017) Effect of axillary dissection vs no axillary dissection on 10-year overall survival among women with invasive breast cancer and sentinel node metastasis: the ACOSOG Z0011 (Alliance) randomized clinical trial. JAMA 318: 918-926.

Indexed at, Google Scholar, Crossref

7. McCart Reed AE, Kutasovic JR, Lakhani SR, Simpson PT (2015)Invasive lobular carcinoma of the breast: Morphology, biomarkers and ’omics.Breast Cancer Res17: 12.

Indexed at, Google Scholar, Crossref