The signs were there, but Marcia Diamond did not want to believe them. Not when her father, uncle, and nephew all passed away from pancreatic cancer. Not when both of her grandmothers and a maternal aunt were diagnosed with breast cancer. And not when she was diagnosed with uterine cancer in 2009 or when that cancer spread to her brain.
“I knew there had to be something in my family’s genes, but I was hopeful it would not be the case,” said Diamond, 67. “But I knew in the back of my mind it had to be that.”
As it turned out, she was right. Encouraged by her gastroenterologist, Diamond, who lives in Westchester County, underwent genetic testing in 2013 and discovered she was positive for the Breast Cancer 2 (BRCA2) hereditary mutation. This mutation, along with BRCA1, is associated with a higher lifetime risk of certain cancers among men and women, most notably breast cancer and ovarian cancer, but also pancreatic cancer, prostate cancer and melanoma.
Although Diamond now had vital information that could help her manage her risk for developing other cancers, she had many more questions. What were the specific recommendations for screening based on her age, sex and genetic mutation? Who could help her navigate the system to receive the care she needed? And what would this mean for her daughter and her son going forward?
“The genetic underpinnings of cancer create major implications not just for patients but also for their families,” said Dr. Kenan Onel, associate director of clinical cancer genetics and precision oncology and director of the Center for Cancer Prevention and Wellness at The Tisch Cancer Institute at Mount Sinai. The center’s care providers oversee ongoing care for individuals who are predisposed for cancer, coordinate multidisciplinary care and offer genetic counseling and testing for blood relatives of individuals who have specific genetic mutations.
“At Mount Sinai, we’ve seamlessly integrated genetic screening and testing into cancer care so that we empower our patients with knowledge about their health and provide a broad spectrum of services and support to help them in their journey to reduce their cancer risk,” said Onel, professor of genetics and genomic sciences at the Icahn School of Medicine at Mount Sinai.
In July 2021, this vision of integrated care came to fruition with the launch of Mount Sinai’s Comprehensive BRCA Program for Men and Women. This first-of-its-kind undertaking meets BRCA-positive patients where they are, with access to online resources, navigational support, in-person and telehealth consultations and customized treatment options. “We put this together in a very programmatic way that so that people can avail themselves of our knowledge and information at a variety of different levels,” said Dr. Elisa R. Port, the chief of breast surgery and director of the renowned Dubin Breast Center at the Tisch Cancer Institute.
Low Prevalence, High Risk
Our eyes. Our smile. Our freckles. When we think about the two sets of genetic code we inherit from our parents, we tend to think about positive associations. The things we share that make us family. The thought that we could inherit a genetic mutation from one or both our parents that predisposes us to a higher lifetime risk of cancer is overwhelming. It is even more overwhelming to think that this mutation occurs in genes that are supposed to protect us from cancer, such as BRCA1/2, which protect us from breast cancer. But if one of your parents has a harmful variant of the BRCA1/2 genes, there is a 50% chance you could inherit it from them and thus a 50% chance you could pass it along to your child.
Overall, hereditary cancers are relatively rare among the general population, accounting for only five to 10% of cases. But there are populations that are at a higher risk for these genetic mutations. For example, although the prevalence of the harmful variant of the BRCA1/2 genes is only one in 400 among the general population, it is much higher among Ashkenazi Jewish women and men — approximately one in 40. Families with a history of breast cancer, particularly at a young age or among men, are also at a higher risk for having the mutation.
“There are other indicators for considering BRCA1/2 mutation screening that are less obvious,” Port said. “You could have a situation in which your father has a BRCA mutation, but there is no history of breast cancer in your family. Other less known indications are a small family or people who have no knowledge of their biologic family history, such as those who are adopted. These are some of the indications we screen for at Mount Sinai because we want to err on the side of caution.”
Providing Guidance & Hope
Port’s diligence is rooted in extensive experience treating BRCA patients. She saw some of the very first patients to be screened for the BRCA mutation when it was discovered 20 years ago. Now she is working on counseling those patients on screening and treatment options for their sons and daughters. “They are telling me that they do not know the recommendations for men or women who have or possibly have these mutations,” she said. “There is a real gap in terms of information and understanding about BRCA, even more so in rural areas across the nation where there are far fewer cases. That means there is little knowledge or comfort among patients and their primary care providers as to how to screen and treat BRCA-related cancers.”
“We have world-renowned gynecologists, prostate cancer surgeons, plastic surgeons, pancreatic cancer specialists and other experts who have made it their life’s work to provide solutions for our BRCA-positive patients,” Port said. “We realized that, if we combined our knowledge and skills in a comprehensive program, we could not only enhance the quality of care we provide our patients but also make our knowledge available to anyone anywhere and thus have a significant impact on health outcomes for all BRCA-positive patients.”
Perhaps the most innovative aspect of the new BRCA Program for Men and Women is the online risk-assessment tool, which is designed to help BRCA-positive patients and their primary care providers make sense of screening and treatment guidelines. Patients enter their age, sex and the BRCA mutation they have and receive customized screening recommendations based on National Comprehensive Cancer Network guidelines. “These guidelines are often difficult for patients to navigate,” Port explained. “For example, if you are a woman aged 25, the guidelines for screening and treatment are different than if you are a woman who is 35. Our tool makes these guidelines more personalized and accessible so that patients and their primary care providers can make more informed screening decisions.”
Patients who complete the online risk assessment have the option to receive care through the Comprehensive BRCA program. Those who opt in are contacted by a nurse practitioner who gathers more information on their personal history to assess their risk for BRCA-related cancers. The nurse practitioner then helps patients navigate their next steps for screening and treatment, such as arranging a full panel of consultations with Mount Sinai’s BRCA specialists. “We bring patients in for a one- to two-day panel of appointments so we can either give them a clean bill of health or a better understanding of their specific risks or situation,” Port explained. “We also provide them with personalized recommendations for next steps so they know what to expect in terms of follow-ups and care with us at Mount Sinai or if they decide they would rather receive care locally.”
Ultimately, patients who choose Mount Sinai for BRCA-related care are in exceptionally good hands. “BRCA care is very much like breast care in that it requires a team approach,” she said. “We have specialists whose only focus is BRCA. If you are BRCA-positive and you need an MRI, you want it done in a place where thousands of breast MRIs are conducted each year, so the radiologist knows what to look for. We have that expertise. We also have pathologists whose only focus is breast biopsies, which is not the case at other hospitals. We have all the bases covered at the highest levels.”
With the Comprehensive BRCA program at Mount Sinai, patients receive the right care and support at every stage of their journey. That is welcome news for Diamond. “Navigating a diagnosis like this is challenging, particularly when you have to do it by yourself, which is what I had to do,” she said. “I am really thrilled that Mount Sinai has a program like this because it means my children and my children’s children will have somewhere they can go for answers and advice on what to do instead of reading about BRCA on the internet and getting scared. It is a real comfort to know that a program like this is there.”
“At Mount Sinai, advanced cancer care means ensuring optimal health and preventing development of cancer, when possible, in those at risk,” Onel said. “Incorporating genetics into cancer care gives our patients knowledge, and knowledge gives them the power and access to the best personalized care.”
The Comprehensive BRCA Program for Men and Women is one of the many ways Mount Sinai is changing medicine and bettering people’s lives. And Port is already formulating plans for its evolution. She envisions expanding the online risk tool to serve patients who have other hereditary gene mutations that are associated with a higher lifetime risk of developing cancers, including PALB2 and p53, but only once the tool is determined to be fully optimized and patient-friendly.
“We are interested in introducing more initiatives and practices that no one has thought of or done previously so that we continue to raise awareness about hereditary cancer risks, provide access to information that helps patients and their primary care providers make informed decisions about their health and enhance the standard of care we provide to our patients,” Port explained. “Making advances on all those fronts is important to us at Mount Sinai.”