The narrative of Angelina Jolie’s preventative health journey resonated globally, profoundly impacting discussions around genetic predispositions to cancer and proactive health measures. Much like Jolie, Justine Avery Sands faced a similar pivotal decision. After discovering she carried the BRCA1 gene mutation, Sands opted for a preventive double mastectomy. This choice was deeply informed by her family history: Sands witnessed her mother succumb to breast cancer at just 43, followed by her aunt’s death from ovarian cancer after a battle with breast cancer, and a cousin’s breast cancer diagnosis.
“My family was like, ‘What’s going on here?’” Sands, a 33-year-old from Seattle, recounted. “My cousin’s doctor recommended genetic testing, leading to testing for my entire family and subsequent genetic counseling.”
Sands’ decision in March 2012 to undergo a prophylactic mastectomy was significant, but it was Angelina Jolie’s public disclosure a year later that broadened public understanding and acceptance of such preventative actions.
“Some people considered my decision radical, and many were unfamiliar with the rationale,” Sands explained. “They were unaware of BRCA genes. Jolie’s openness has been transformative for awareness and for individuals who will face similar decisions in the future. Now, they have a well-known example, witnessing her journey and seeing her emerge beautiful, strong, and healthy.”
Elevating Cancer Awareness
It’s crucial to understand that the majority of breast cancer cases are not hereditary. The National Cancer Institute estimates that inherited gene mutations, such as BRCA1 or 2, account for no more than 10 percent of all breast cancers. According to the NCI, approximately 12 percent of women in the U.S. will develop breast cancer during their lifetime, and about 1.4 percent will develop ovarian cancer.
However, for individuals, both women and men, with a BRCA gene mutation, the risks are substantially elevated. While these risks fluctuate based on family history and other factors, studies indicate that around 55 to 65 percent of women with BRCA1 and about 45 percent with BRCA2 will be diagnosed with breast cancer by age 70. Furthermore, nearly 40 percent of women with BRCA1 and 11 to 17 percent with BRCA2 will develop ovarian cancer.
Prophylactic surgery emerges as a significant option to mitigate these risks.
Dr. Anne McTiernan, director of the Prevention Center at Fred Hutch, explains that women undergoing bilateral prophylactic mastectomy reduce their breast cancer risk by over 90 percent. Similarly, the removal of both ovaries reduces the risk of developing breast cancer by approximately half compared to women with intact ovaries. Dr. McTiernan emphasizes that these preventative surgical options are most suited for women at very high risk.
Angelina Jolie, given her family history and genetic predisposition, was at high risk. Her public stance played a vital role in destigmatizing both prophylactic surgery and the concept of genetic testing and counseling, notes Mercy Laurino, a genetic counselor at the Cancer Prevention Clinic at Seattle Cancer Care Alliance.
“Her impact on public health was immense,” Laurino stated. “It normalized conversations around genetic testing. Patients would come in, sharing family histories of breast or ovarian cancer, and then reference Angelina Jolie. It provided a starting point for discussions about genetic testing and other cancer-related genes beyond BRCA1 and 2. Her story made complex genetic concepts more accessible and easier to explain the concept of inheritance.”
Laurino also highlighted that this surge in awareness extended beyond the U.S., creating a global “ripple effect.”
“I’ve observed this impact in the Philippines, China, and Vietnam,” she added. “At an oncology meeting in China, vendors promoting cancer genetic testing prominently featured images of Angelina Jolie in their booths. Previously, introducing genetic testing and counseling required extensive explanation. Now, the understanding is already there. People get it.”
Addressing Misconceptions Surrounding Genetic Testing
Laurino observed a doubling of referrals at SCCA’s Genetic Counseling Service in the weeks following Jolie’s announcement, although these numbers eventually normalized. She also noted a predictable trend: some women seeking genetic testing did not necessarily have medical indications for it.
“Some patients desired testing even without a family history of cancer or any medical necessity,” she explained. “They simply wanted to know. This represents one of the potential downsides of Jolie’s widespread message.”
Joy Larsen Haidle, president of the National Society of Genetic Counselors, confirmed this national trend.
“Most genetic counselors reported a significant increase in inquiries about genetic testing following the media coverage,” she stated, noting calls from both high-risk women and healthy women without family histories who were concerned about breast cancer risk.
Larsen Haidle also pointed out that increased awareness brought with it some misunderstandings. For instance, some individuals mistakenly believed that a BRCA gene mutation test could provide a precise lifetime risk of developing breast cancer.
The NCI clarifies that a positive test result indicates an inherited BRCA1 or 2 mutation, signifying an elevated risk for certain cancers. However, it cannot predict whether or when an individual will develop cancer, as not all women with BRCA1 or 2 mutations will develop breast or ovarian cancer.
“At a cost of $4,000 per test, it’s not a cost-effective screening tool for the general public, especially considering the limited information it provides,” Larsen Haidle cautioned.
The Crucial Role of Genetic Counseling
Larsen Haidle emphasizes that a consultation with a genetic counselor is far more valuable. Genetic counselors can assess an individual’s risk of developing breast cancer based on personal and family history and advise on the appropriateness of genetic testing.
Genetic counselors, trained in both science and psychosocial aspects, educate patients about genetic risks and the necessity of testing. For individuals testing positive for BRCA1 or 2 or other gene mutations increasing cancer risk, they offer guidance on risk reduction strategies. These options include enhanced screenings, estrogen-blocking drugs (for women over 60), and prophylactic surgeries.
“We step in when someone knows they are at increased cancer risk,” Laurino explains. “And not everyone chooses the same path as Angelina Jolie. Some prefer watchful waiting and screening. We discuss all options with patients.”
Dr. Gralow emphasizes the paramount importance of these conversations happening.
“Undoubtedly, some individuals may overestimate their risk, but the dialogue is ongoing, and more women are asking their healthcare providers crucial questions,” she notes. “Angelina initiated this dialogue by openly discussing her family history and genetic testing, demonstrating that preventive mastectomy does not diminish womanhood or sexuality. It is now the healthcare community’s responsibility to continue this dialogue and educate patients and the broader community about the implications for them.”
Sands echoes this sentiment.
“Angelina Jolie is a celebrity, and celebrities often face criticism, but her awareness campaign was incredibly positive for women,” she stated. “My mother had the gene before BRCA was even understood. I feel fortunate to have made informed decisions and chosen to live proactively.”
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- As FDA halts 23andMe sales, scientists warn personal genetic screenings are ‘entertainment genetics’
Solid tumors, such as those of the breast and ovaries, are the focus of Solid Tumor Translational Research, a network comprised of Fred Hutchinson Cancer Research Center, UW Medicine and Seattle Cancer Care Alliance. STTR is bridging laboratory sciences and patient care to provide the most precise treatment options for patients with solid tumor cancers.
Diane Mapes is a staff writer at Fred Hutchinson Cancer Research Center. She has also written extensively about health issues for nbcnews.com, TODAY.com, CNN.com, MSN.com, Columns and several other publications. She also writes the breast cancer blog, doublewhammied.com. Reach her at [email protected].
