One-Stop Shops for Patients With BRCA Mutations

In 2012, a $25 million donation established the Basser Center for BRCA at the University of Pennsylvania, Philadelphia. For years, the Basser Center was touted as the only comprehensive center for the research, treatment, and prevention of cancers related to the BRCA1 and BRCA2 genetic mutations, which carry associations with cancers of the breast, ovaries, prostate, pancreas, and skin.

Recently, other academic institutions have established centers promising comprehensive care for patients with BRCA and other cancer-linked mutations. Among the newest are the Genetics and Personalized Cancer Prevention Program at NewYork-Presbyterian Hospital/Weill Cornell Medicine, which opened last year, and the Cancer Prevention Program at Indiana University Health (IUH), Indianapolis, which started seeing patients in 2022.

The previous year, the Dana-Farber Cancer Institute, Boston, established its Mellen and Eisenson Family Center for BRCA and Related Genes. Also in 2021, Mount Sinai Health System, New York City, introduced its Comprehensive BRCA Program.

Interest in developing these more comprehensive programs has been on the rise, Susan M. Domchek, MD, executive director of the Basser Center for BRCA and a professor of oncology at Penn Medicine, said during an interview. She contended that this all-in-one model — so that patients aren’t “scurrying around the city” — is more helpful for patients than the approach of other institutions, where patients are seen once in genetics and then sent out to individual clinics.

“There are people I’ve taken care of for 23 years, and now I’ve tested their children,” Domchek said, referring to patients from before the Basser Center was formally established. “It’s the closest thing you can get to a family doctor, but for genetics. There’s an immense value in that.”

A ‘Typical Week’ at the Basser Center

It’s difficult to quantify how many comprehensive centers exist in the United States. “It depends how you count,” Domchek acknowledged. The National Cancer Institute designates 57 institutions as comprehensive cancer centers, and all of them have genetics programs, she observed.

“It’s just a question of how things are set up,” Domchek explained. “For many programs, you might get your genetic testing done, and then you’re sent over here to get your breast screening, and then you’re sent over to a different building to talk to the ovarian cancer people. The approach we have, we consider it the quarterback model. We take on all of these issues for discussion and then at the appropriate time refer people for that extra care.”

For instance, when someone who tests positive for a BRCA mutation is 25, all they might require is a yearly breast MRI, she said. When that person is ready to have their ovaries removed as a preventive measure, that’s when they can have a more detailed discussion with surgeons. “If we’re sending you to four different doctors, it can feel pretty overwhelming,” Domchek said. “So our goal is to be there year in, year out over your changing life and your changing goals, and we know you already, and we can help you to navigate all of these things.”

A typical week can run the gamut. Domchek said she sees people with BRCA1, BRCA2, and other gene mutations, including people without cancer who are looking to manage the risk and people with cancer for clinical trials or other care. The center also counsels family members who are getting tested to determine their risk, and it does research into areas such as early screening for ovarian cancer as well as vaccines and other cancer-reduction medications for healthy BRCA carriers.

The newer programs champion a broadly similar approach.

Mount Sinai’s Program Formalizes Patient-Sharing, Specialist Recommendations

Someone who tests positive for the BRCA mutation faces a daunting to-do list that involves coordinating tests, counseling, screenings, and potentially preventive treatments. “Our program aims to make the whole process easy and patient-focused,” said Stephanie V. Blank, MD, director of Gynecologic Oncology, Mount Sinai Health System, and professor of obstetrics, gynecology and reproductive science, Icahn School of Medicine at Mount Sinai, New York City. “To take the burden of remembering everything off of the patient.”

Mount Sinai’s BRCA program formalizes the patient-sharing and specialist recommendations that were already happening on a more ad hoc basis. “We’re focused on being extremely patient-centric,” Blank said during an interview, comparing the system to a navigator. “We all link and we get them all of their things, so they’re not having to come and go, and make phone calls and wait. It’s coordinated to make it really easy for patients.”

The “most important” part of what Mount Sinai’s BRCA program offers is its counseling, Blank said. Decisions about when to have preventive oophorectomies and mastectomies, particularly if a woman wants to have and breastfeed children, aren’t easy, she noted.

Elisa R. Port, MD, chief of breast surgery for Mount Sinai, gave the example of a 30-year-old patient with the BRCA pathogenic variation whose mother developed ovarian cancer at an earlier age than when ovary removal is typically recommended. “It’s really, really scary,” Port said in an interview. “This is a perfect case study in why the program is so invaluable.”

Port would send the patient to Blank, who would then provide these recommendations for this particular patient: First, freezing the person’s eggs, then taking out her fallopian tubes because that’s where these cancers often start and because this way the patient would still be able to get pregnant.

“It’s very tailored,” Blank said of preventive care within the program. “Now, [the patient] might not go that far, but that’s what I would recommend.”

Each program touts its own distinguishing factors, starting with the quality and expertise of its multidisciplinary specialists. One simple feature that may be unique to Mount Sinai is its free, internet-based quiz that people with BRCA mutations can take to assess their options from home. “You click on whether you’re BRCA1– or BRCA2-positive, male or female, and what age group you fall in, and it spits out the list of recommendations for screening for you as an individual,” Port said. “The online tool that we developed is not anything I’ve seen anywhere else.”

Another characteristic that sets Mount Sinai apart may be its history of treating the Ashkenazi Jewish population, which has a disproportionately high risk of carrying BRCA — 1 in 40 vs 1 in 500 for the overall population. “Mount Sinai is a hospital that was founded for doctors who couldn’t get jobs elsewhere on the basis of being Jewish and for patients who couldn’t get care,” Port noted.

Today, Blank added, Mount Sinai sees a diverse population including Black, Asian, and Latino patients, with varying BRCA rates.

The Weill Cornell, IUH, and Dana-Farber Programs’ Offerings

The pool of possible patients for such programs is wide and varied.

Guidelines from the National Comprehensive Cancer Network (NCCN) recommend that every woman should have a breast cancer risk assessment by age 25 years, said Melissa K. Frey, MD, a gynecologic oncologist and director of the Genetics and Personalized Cancer Prevention Program at Weill Cornell Medicine, New York City.

“Now, that doesn’t mean genetic testing,” Frey explained during an interview. “That just means reviewing personal and family history to see what is your risk of breast cancer, and are you a woman who should have earlier or more intensive screening? Are you someone who should have genetic testing?”

Based on personal or family history, about 25% of the general population would meet the NCCN criteria for genetic testing, Frey said. While what’s covered by insurance usually follows the NCCN guidelines, many genetic testing companies also offer an out-of-pocket price that’s usually about $250, Frey said, “which is still expensive, but much less than it was in the past.”

Weill Cornell offers its genetic testing to anyone who is interested, as long as they have done their due diligence and understand the potential cost, Frey said. The program takes referrals from other doctors for patients who have cancer or a strong family history, but people can also self-refer.

Beyond the initial testing, coverage is state by state and insurance company by insurance company. But for most people with insurance who have a BRCA mutation, breast cancer screening and breast or ovarian risk-reducing surgery will generally be covered, Frey said.

The majority of patients in the program are identified by their primary care providers or their OB/GYNs as being at high risk for a cancer-causing mutation based on their family history, while others are referred by oncologists who have done the testing themselves, said Jamieson Hart Greenwald, MD, a genetics and OB/GYN physician who joined the program in March. Some are self-referring because of relatives who have had testing done or are patients who already have a cancer diagnosis.

“Oncologists are referring patients to us identified to have a mutation because that oncologist, for instance, is treating their breast cancer, but the mutation is also associated with ovarian cancer, pancreatic cancer, skin cancer, etc., which is out of their purview,” Greenwald said, in an interview. “So that’s why they refer to us, to then coordinate the care related to the other cancers that they’re at risk of. We’re an added team member. We’re the point people for their mutation, and then we communicate with their oncologists, the other specialists, and their primary care providers to guide them.”

The program’s doctors coordinate the care patients need, providing the referrals and following up to make sure they are getting their mammograms and MRIs, so they “don’t get lost in the system,” Greenwald said.

“The idea was to create a program where we could provide not only the initial cancer genetic testing for our patients but also provide the longitudinal care for patients who are identified as having a cancer-causing mutation,” she explained. “We are their medical home for that mutation.”

The IUH Cancer Prevention Program saw its first patient in January 2022, said Nawal M. Kassem, MD, physician lead for the program and an oncologist who focuses on breast care. Before patients meet Kassem, the genetic counselor Cynthia L. Hunter, MS, CGC, will typically confer with them and discuss who else in their family should be tested. Then Kassem talks with the patients about the risks and puts them on a surveillance plan, taking into account age, family history, and medical guidelines.

“Many of those patients I see twice a year,” Kassem said, in an interview. “Some I see once a year, and that’s it. If needed, since I’m an oncologist, I can also prescribe any chemo prevention. And I do tend to follow those patients, and I order all the imaging.”

One perhaps novel measure in the program is its outreach to Black carriers of BRCA mutations.

“The fact that Back patients are less likely to get genetic testing has been around for some time, but what we didn’t know was that their family members were also less likely to get testing,” Kassem said. “I currently have a protocol to try to improve the genetic testing in family members of those Black patients who tested positive.”

It’s difficult to get clear numbers on how many institutions’ genetic testing and counseling programs are comparable to these more recent initiatives.

“Every major hospital has a program for genetics,” said Judy E. Garber, MD, MPH, chief of the Division for Cancer Genetics and Prevention and co-director of Mellen and Eisenson Family Center for BRCA and Related Genes at Dana-Farber. “They’re not all exactly the same.”

To distinguish Dana-Farber’s BRCA center, Garber pointed to its research efforts. But she also stressed the importance of understanding inherited mutations for practicing oncologists more generally.

“It’s really not that complicated,” Garber said. “I think we made a mistake in the early years making oncologists feel like they can never understand this. ‘It’s too sophisticated. Go see the specialist.’ That’s not the case. This information is available to our patients, and we all have to learn how to manage it.”

Domchek of Penn Medicine trained at Dana-Farber, where Garber was her mentor. Going back to the patients, Domchek said that if she sees a 25-year-old who just found out she has a BRCA mutation, she will talk to the patient about breast cancer screening, risk-reducing mastectomy, when she needs to start worrying about her ovaries, how she might have her children, and what the risks are to the patient’s family members, her sisters, and cousins.

“This is not your standard medical care — you know, ‘You have elevated cholesterol, I’m going to give you a medication,’” Domchek said. “This is a combination of pulling out what people’s priorities are in the moment, and how to rank-order those priorities, while at the same time giving good medical care so that we can optimize early detection or risk reduction.”

Integrated Cancer Management in High Demand

These programs are part of a movement to improve transdisciplinary care after diagnosis, according to Steven J. Katz, MD, MPH, who leads the Cancer Surveillance and Outcomes Research Team at the University of Michigan, Ann Arbor, Michigan.

Katz, who is not employed by any of the comprehensive care centers, led a recent study that found many breast cancer survivors who met the criteria for genetic testing and counseling were not receiving it.

“There is an enormous need for integrated cancer management after diagnosis and of course genetic medicine is growing after diagnosis,” Katz noted, in an interview. “It’s not really about picking off BRCA carriers after diagnosis but integrating management after diagnosis for the full array of diagnostic and treatment algorithms and management.”