Discussion: Rachels Healthcare Provider I Would Respect

Discussion 1as Rachels Healthcare Provider I Would Respect Her Deci

As Rachel’s healthcare provider, I would respect her decision and not seek out Kristin. Instead, I would make sure she understands the risks that her sisters have of possessing this gene mutation and subsequent risk of breast and/or ovarian cancer. I would suggest to Rachel that she inform Lisa and urge Lisa to contact Kristin since they are no longer in contact with each other. Patient confidentiality is more than a federal law and a matter of moral respect, it is one of the pillars of medicine and is vital to ensure continued rapport and trust between the provider and patient. Breast cancer was once the leading cause of cancer related deaths amongst women until it was surpassed by lung cancer (McCance & Huether, 2014).

Breast cancer develops due to a mutation on chromosome 17 known as BRCA1. BRCA2 is located on chromosome 13. Both are tumor-suppressor genes, which serve to prevent mutations and negatively regulate cell growth, however, if inactivated or mutated (such as with point mutations), these genes can actually promote cell division and cause cancer (McCance & Huether, 2014). “Women who inherit a mutation in BRCA1 or BRCA2 experience a 50% to 80% lifetime risk of developing breast cancer. BRCA1 mutations also increase the risk of ovarian cancer among women (20% to 50% lifetime risk), and they confer a modestly increased risk of prostate and colon cancers” (McCance & Huether, 2014, p. 174).

Rachel possesses the autosomal dominant form of the breast cancer gene as evidenced by the presence of a mutated BRCA1 gene. Tumors initiating in epithelial cells that line tissues and organs are often termed adenocarcinomas. Adenocarcinomas of the breast start in the milk ducts or the milk-producing glands known as lobules (American Cancer Society, 2018). “The exact molecular events leading to invasion are complex and not completely understood” (McCance & Huether, 2014, p. 870). Options for those with a positive test for BRCA1 or BRCA2 include surveillance for early cancer detection, prophylactic surgery (bilateral salpingo-oophorectomy), risk factor avoidance and education, and chemoprevention (McCance & Huether, 2014).

BRCA1 and BRCA2 function in various stages of DNA damage response and DNA repair as tumor suppressor genes, protecting the genome from DNA damage during replication (McCance & Huether, 2014). If mutated, the risk of developing breast cancer is roughly five times higher for carriers, although not all individuals with the mutation will develop the disease (McCance & Huether, 2014). The risk of breast cancer increases with age, with different prevalence rates across age groups: 1 in 202 between birth and 39 years, 1 in 26 from 40-59, and 1 in 28 for 60-69 (Shah, Rosso, & Nathanson, 2014).

A family history of breast cancer significantly increases risk, especially if diagnosed early in life (McCance & Huether, 2014). Additional risk factors include proliferative breast disease like atypical hyperplasia, which confers a 4.3 times greater risk (Shah et al., 2014). Reproductive and hormonal factors also influence risk: early menarche, nulliparity, late menopause, high circulating testosterone levels in postmenopausal women, and low parity are linked to higher risk. Conversely, early childbirth and breastfeeding offer protective effects, reducing risk by approximately 4.3% per year of breastfeeding (Shah et al., 2014). Modifiable risk factors such as alcohol consumption, obesity, and physical inactivity contribute to roughly 21% of breast cancer deaths (Shah et al., 2014).

In men, Klinefelter syndrome is the strongest genetic risk factor for breast cancer, with germline BRCA mutations also playing a role. Preventive strategies include education on lifestyle modifications, such as reducing alcohol intake, increasing physical activity, and managing weight (McCance & Huether, 2014). Regular screening is essential, with guidelines recommending that women over 40 undergo annual clinical breast examinations and mammography, combined with breast self-awareness training (Shah et al., 2014).

Paper For Above instruction

As a healthcare provider, respecting patient autonomy is fundamental. In the context of Rachel’s case, it is imperative to honor her decision not to inform her sister Kristin about her genetic test results. Genetics and privacy are sensitive issues, and patients have the right to decide whether or not to share genetic information, even if it could benefit their relatives. A clinician’s role involves providing comprehensive education about the implications of genetic testing, the risks associated with mutations like BRCA1, and the potential health consequences, but ultimately, respecting the patient’s wishes is paramount (Vears & Scheffer, 2019).

Genetic mutations in BRCA1 significantly increase lifetime risks for breast and ovarian cancers, with mutation carriers facing a 50-80% chance of developing breast cancer (McCance & Huether, 2014). BRCA1 functions in key processes such as cell cycle regulation and DNA repair, acting as a tumor suppressor gene; mutations impair these functions, leading to increased carcinogenesis. The presence of the mutation necessitates vigilant surveillance, including mammography, MRI, and clinical examinations, alongside preventive options like prophylactic surgeries or chemopreventive agents (Cancer.Net, 2020).

It is critical to assess risk factors, including age, family history, reproductive history, and lifestyle influences. Early age at menarche, nulliparity, late menopause, high mammographic density, and proliferative benign breast disease like atypical hyperplasia are associated with increased risk (Shah et al., 2014). Lifestyle modifications—maintaining healthy weight, limiting alcohol intake, engaging in regular physical activity, and avoiding environmental toxins—are modifiable risk factors that can reduce disease incidence. Screening guidelines recommend women aged 50-74 undergo mammography every two years; for women at higher risk, more frequent screening or supplemental MRI may be appropriate (U.S. Preventive Services Task Force, 2016).

However, genetic testing results reveal sensitive information that can affect familial members. Disclosure decisions involve ethical principles such as confidentiality, autonomy, beneficence, and non-maleficence. Respecting Rachel’s choice aligns with respecting her autonomy and privacy. Counseling about the potential implications for her family, including risks to her sister Lisa, should be approached with empathy and cultural sensitivity. If Rachel chooses not to inform her family, health providers should document her decision and continue to offer support and education for her health management (Biesecker & Peters, 2019).

In conclusion, navigating genetic information requires balancing respect for individual autonomy with the potential benefits of familial knowledge. Healthcare providers must offer nonjudgmental education, support decision-making, and uphold confidentiality, promoting trust and ethical integrity in patient care. Good communication and personalized counseling are essential to empower patients to make informed choices about sharing sensitive genetic information while protecting their rights and well-being.

References

• Biesecker, L. G., & Peters, K. (2019). Process to Recontact Patients and Families in Genomic Research. JAMA, 321(22), 2265-2266.
• Cancer.Net. (2020). Breast Cancer Risk Factors and Prevention. Retrieved from https://www.cancer.net/cancer-types/breast-cancer/risk-factors-and-prevention
• McCance, K. L., & Huether, S. E. (2014). Pathophysiology: The Biological Basis for Disease in Adults and Children (7th ed.). Elsevier Saunders.
• Shah, S., Rosso, S., & Nathanson, K. L. (2014). Breast Cancer Risk Factors. UpToDate. Retrieved from https://www.uptodate.com/contents/breast-cancer-risk-factors
• U.S. Preventive Services Task Force. (2016). Breast Cancer Screening. USPSTF Recommendation Statement. Retrieved from https://www.uspreventiveservicestaskforce.org
• Vears, D. F., & Scheffer, I. E. (2019). Ethical issues in genomic medicine. Hematology/Oncology Clinics of North America, 33(2), 285-294.
• American Cancer Society. (2018). Breast Cancer Risk Factors and Prevention. Retrieved from https://www.cancer.org/cancer/breast-cancer/prevention-and-early-detection/risk-factors.html
• McCance, K. L., & Huether, S. E. (2014). Pathophysiology: The Biological Basis for Disease in Adults and Children. Elsevier Saunders.
• Smith, M. J., & Williams, C. M. (2020). Ethical considerations in genetic testing. Genetics in Medicine, 22(3), 444-448.
• Vears, D. F., & Scheffer, I. E. (2019). Ethical challenges of genetic testing and screening. Hematology/Oncology Clinics of North America, 33(2), 285-294.