In today’s world, genetic testing has become increasingly accessible for more people, creating an increased opportunity for doctors to improve their patients' health. Dr. Melissa Frey, a gynecologic oncologist at NewYork-Presbyterian and Weill Cornell Medicine, is championing an approach known as “cascade genetic testing” to not only learn more about her patient’s cancer risk but to then be able to alert family members of their risk too. As a part of the Genetics and Personalized Cancer Prevention Program at Weill Cornell Medicine, she and her team ensure end-to-end care for all patients, including testing, counseling and coordination that helps a patient manage the multiple risks and conditions that they may face in an integrated effort.
Dr. Melissa Frey, a gynecologic oncologist at NewYork-Presbyterian and Weill Cornell Medicine, has a genuine passion for the power of genetic testing because she knows that it can completely change the direction of her patient’s lives for the better. As a leader in the field, she helped launch a unique screening program with multi-disciplinary expertise and counseling, the Genetics and Personalized Cancer Prevention Center at Weill Cornell Medicine. The center not only helps patients gain access to genetic testing to assess their risk of cancers but it also uses cascade testing to contact their relatives and help them get genetic testing too. In doing so, the center is working to identify more people whose lives haven't yet been affected by cancer and help them take preventive action based on their risk. In many cases this can mean avoiding a life threatening illness.
For more information visit nyp.org/Advances
For more information visit nyp.org/Advances
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Dr. Frey: I have a patient who was diagnosed with breast cancer and was found to have a BRCA mutation.
Dr. Melissa Frey is a gynecologic oncologist at NewYork-Presbyterian but she isn't focused on just treating cancer - she wants to prevent it. And understanding her patients' genetics informs the decisions she makes about how to care for them.
Like many patients with a BRCA mutation, Dr. Frey’s patient had a family history of breast and ovarian cancer.
Dr. Frey: As part of her treatment plan, I was able to do a surgery to prevent ovarian cancer at the same time as her breast surgery. We wanted to limit the number of surgeries she had so she could get back to work. After her surgery and as she was finishing up her breast cancer treatment, which thankfully went very well, you know, she said to me, how could this have been prevented?
Dr. Frey: Sadly, this was a mutation that was passed to her by her mother.
Dr. Frey: And so what that tells us is, is that if any of her relatives had found this mutation, [01:00] you know, even just a year or two prior, then my patient could have had genetic testing and her cancer could have been prevented or caught at a much earlier stage when the burden of radiation, chemotherapy, surgery would have been dramatically different. And when I shared this news with her that potentially the situation could have been prevented, you know, I thought she was going to be very upset, but what I did not expect was her first question: What can we do next?
The patient wanted to give her relatives the opportunity that she didn't have - she wanted to give them the option to take preventative action if they also had BRCA mutations.
Dr. Frey: She has four sisters who lived across the world, and none of them had had genetic testing. And we were able to offer all of them, genetic testing. Two of her sisters were found to have the same mutation and thankfully have never had cancer. And so they are now in a position to prevent cancer. And so, you know, I think that shows how for many people [02:00], this terrible situation of a cancer diagnosis can be translated into a life saving opportunity for their relatives.
I'm Catherine Price and this is Advances in Care.
This week I talked to Dr. Frey, a gynecologic oncologist and co-director of the Genetics and Personalized Cancer Prevention Program at NewYork-Presbyterian and Weill Cornell about the power of leveraging genetics to prevent cancer.
Catherine: Dr. Frey, thank you so much for joining me today.
Dr. Frey: Thank you so much for letting me be here. I'm very excited.
Catherine: So how did you become interested in cancer and genetics?
Dr. Frey: I've been interested in women's health and cancer really for as long as I can remember, and I always wanted to be a gynecologic oncologist. But I also was sort of always interested in the cause of cancer because I think I learned very early that although we spend most of our [03:00] time learning the surgical technique and how to give chemotherapy and other anti-cancer agents. What is so much more powerful is cancer prevention. And really thinking about the way that genetics contribute to cancer risk. So we know that almost a quarter of ovarian cancers are due to inherited mutations.
So something like, you know, many people may have heard of BRCA1 or BRCA1 and 2, but also several other genes that increase cancer risk. And for ovarian cancer, that is especially significant because The majority of patients present at an advanced stage when although treatment is available and people can have a remission, cure is often not possible. And so that just really got me thinking that, you know, if a quarter of these patients, you know, we could have predicted their cancer prior to, um, prior to them developing this cancer and prevented it, that would be life saving.
And I really saw that as a missed opportunity. And, you know, I thought if, if we're not testing people [04:00] with solid tumors that we know have a hereditary link, then we're certainly not testing people in the general population who have a strong family history or something about their personal history that informs their risk.
Catherine: Can you tell me a bit about what's changed in the world of oncology in terms of what you can now do if you find out that you actually do carry one of these mutations that put you at high risk?
Dr. Frey: I think there persists a common fear that genetic testing for hereditary cancer syndromes is going to provide information that is terrifying, and that is, you know, fatalistic and is going to give someone this extraordinarily high risk for cancer without any tools to change that. But I think it's also important to say that the field has changed dramatically, over the past few years. And so when we think about the big cancers we're testing for with these panels, the reason to test is because we can change the course of a person's life.
We can prevent cancers and if we can't prevent them, we can detect them at their earliest and most treatable stage. [05:00] A lot of what we do is breast cancer risk assessment. So there are many, many, many people who are living with increased risk for breast cancer. And that is due to genetics, but even beyond genetics, we do risk assessment based on, on someone's personal and family history and can calculate a lifetime risk of breast cancer.
And when we do that, we find either through personal or family history that someone has an increased risk, we can offer enhanced breast screening. So what does that look like? In addition to doing a mammogram every year, we recommend an MRI. And we know that this combination of mammogram and MRI can lead to diagnosis of cancers that are earlier stage, significantly more treatable and more curable.
Not only that, but we now have, sort of, a growing understanding of medical prevention of breast cancer. There are several medications, tamoxifen and aromatase inhibitors. That can actually prevent breast cancer. We think of these largely as adjuvant treatment for women who've been diagnosed with breast cancer to prevent a [06:00] recurrence, but we actually know that this can cut someone's breast cancer risk in half if taken prior to the onset of breast cancer.
And I think that is huge, right? I think people don't realize that. And then finally, for some women with a very high risk for breast cancer, there is the option for risk reducing surgery, that's risk reducing mastectomy, which is really the best tool we have to decrease the risk for breast cancer. But I would say, you know, we just talked about, sort of, three separate approaches to breast cancer early detection and prevention that a person can choose between. And so that is why we want to find out if someone has a higher lifetime risk for breast cancer.
Catherine: You know, it's so interesting to think that while we might not be able to cure cancer, we have really excellent tools to prevent it.I know that you are a big advocate of cascade testing as a preventative measure, so can you tell me about what that is?
Dr. Frey: Absolutely. So I think whether it's Lynch syndrome or any other hereditary cancer, there are millions of people in this country who have these syndromes and the majority are unaware. And, you know, I can't say this enough, [07:00] that is a missed opportunity to prevent cancer and save lives.
And so many people are thinking about ways to change that. How can we give increased access to genetic testing? And one of the best options is what's called cascade testing. Cascade is sort of the idea of dominoes where if you can identify one person with a genetic mutation and reach out to their relatives and start testing, you can find many people that have mutations.
And so the idea is the dominoes are falling. You just start with one domino. So let's take an example, if I have a patient who has ovarian cancer, I do her genetic testing. Let's say we find a BRCA1 mutation in my patient. The next step is to offer all of her first degree relatives testing. Each of her first degree relatives will have a 50 percent chance of carrying that same mutation. So let's say we find, um, a mutation in her sister.
So not only can we help her sister, but then her sister can reach out to all of her relatives. And the idea is that you have these [08:00] iterative cascades, where you're continuing to, offer testing to more and more family members, and we've actually modeled this, and we found that if we could offer genetic testing to everyone with cancer, find everyone who has a mutation, and then offer all of their relatives genetic testing, we could actually identify all people in this country who have mutations in less than a decade.
And so I think the idea is great. It makes sense. We're targeting the people and the families that are at higher risk. But there is a problem. And the problem is, currently, when we find these mutations, We put the burden of family communication and family testing on our patients.
So the standard of care is to write a nice note explaining the mutation and encourage her to go reach out to relatives. But if you think about my patient, I told you that her diagnosis of mutation arose in the setting of a new cancer. So she's dealing with surgery, chemotherapy, navigating time off from work, navigating the financial toxicity of her cancer.
And we're telling her, in addition [09:00] to dealing with all of those critical life changes, she has to reach out to her relatives, explain complex genetics, and help them get tested. And I think even in a family that gets along wonderfully, this can be difficult, but then you can imagine if there are any complicated family situations, or if someone just is not ready to share their own information with relatives, this is very complex.
Catherine: I understand that you launched the Genetics and Personalized Cancer Prevention Program in 2023 and that you serve as the co-director to solve this problem. Can you tell me a bit more about what the program does?
Dr. Frey: So my passion is to make genetic testing accessible. And I really wanted to create a place that people could come to have genetic assessment. So to determine, you know, what is my cancer risk? You know, should I get genetic testing? Should I not get genetic testing? And then help me interpret the results and then also take care of patients long term. And we are now able to offer that service through the Genetics and Personalized Cancer Prevention Program. This was a program that launched in [10:00] September 2023, and really the goal is to have these three critical elements. cancer risk assessment, genetic testing, and then finally, long term care coordination.
So this can be provider referral. This can be someone with cancer, without cancer. This can be self referral for anyone who's concerned about their cancer risk. We'll determine whether or not someone should consider genetic testing. And if for anyone who's interested in genetic testing, will counsel people on the pros and cons and facilitate that testing. And then we will help people review their results.
Our sort of final mission as part of this program is to help patients navigate their health care long term. And so we'll set up breast imaging for people, we'll set up pancreatic imaging for people, we'll help, connect people with surgeons if they need a surgical risk reduction, we'll organize screenings and sort of, see people annually so that we can keep their screening and keep their risk estimates up to date.
Catherine: Okay. I'm wondering if you can describe how is this approach different [11:00] from the traditional approach at other hospitals when it comes to genetic oncology?
Dr. Frey: Most hospitals have genetics. Often there are genetic counselors, which is a fantastic resource, but often it's siloed. So there might be a breast genetic counselor, there might be an ovarian genetic counselor or a gastrointestinal genetic counselor, and it was really a one time visit where a patient can come, can access genetic testing, have the results explained to them, but then that is the conclusion of the genetics care.
And so our goal was to make this multidisciplinary. So one place for anyone who wants cancer related genetic testing, whether that is due to family history of melanoma or family history of brain cancer or whatever the cancer is, it's sort of one home for these patients. And the other distinction is this is not a one time visit.
This is for people who are at high risk, a long term commitment to cancer prevention care. And I think that is something [12:00] that patients want. I think it's a common complaint we hear from people that, you know, they understand there are increases for cancer, but there are just so many tests and so many things to keep up with. And so I think the idea is that we can help people get that done. And we know that's going to improve adherence and it's certainly going to improve the patient experience.
Catherine: It just seems so important that you're paying attention to the emotional burden of all of this, that what I'm hearing from you is just this alleviation of a burden of the emotional stress that comes with not knowing what to do next, being scared, not knowing how to navigate this system. And that when they come to you and your colleagues, like they get that support. I think that's so underappreciated.
Dr. Frey: I absolutely agree. And I think anyone who practices medicine knows that you can spend 45 minutes with a patient and if you call them a week later, they will have likely forgotten a lot of what was discussed, which is to be expected, right? There's so much discussed. There's a lot, often a lot of anxiety.
And so what we try to do is really think about that. And, and so, [13:00] You know, one of the things we do is we have an embedded social worker who's within our program who will call patients. So part of it is just to help remind them what care needs to be coordinated and what we recommended, but then also to assess, do they have psychosocial needs that also need to be addressed? And so I am, uh, completely agree with you that thinking about kind of all aspects of a patient's experience and care is critical.
Catherine: It really is critical because not only are the patients and relatives dealing with the emotional aspects of a deadly cancer diagnosis but then, the relative would need to take another step and actually go get genetic testing, so there’s a lot of proactivity that would be required.
Dr. Frey: I think there are many relatives and we've studied this and we've interviewed relatives who get the information and think, absolutely, I want to sign up for this, but then don't know where to go.
So we're trying to change that. We started with a small pilot study. We enrolled 30 families with hereditary cancer syndromes, and we offered any blood relative who's at risk for [14:00] carrying this mutation, this facilitated method of cascade testing where our genetics team reached out to relatives, explained the mutation, explained the recommendation for testing, and if they wanted testing, that we helped them get it done via mailed saliva kits. If you, um, use the traditional approach where it's, you know, really mediated by the patients, you get about a third of relatives undergoing genetic testing. And we were very excited to see that our uptake with this facilitated approach was more than 60%. And so that's many, many relatives getting tested.
Catherine: So really like a doubling
Dr. Frey: Exactly.
Catherine: And I understand that that pilot study has already lead to a new initiative at the genetics and Personalized Cancer Prevention Program….
Dr. Frey: I believe that all institutions across this country should invest in cascade testing because I think this will save lives. So we actually opened a registry, it's called Act On, or Assisted Cascade Testing Through Outreach and Navigation. So for anyone at our institution [15:00] who has a hereditary cancer syndrome, we offer assistance reaching out to relatives and we do this through a registry. And we've had a tremendous amount of interest, um, in helping people get their relatives tested.
Catherine: So that means that anyone who comes in and has a cancer that has a hereditary component, they can sign up to have your team facilitate testing for their relatives. Is that right?
Dr. Frey: Absolutely. And they don't have to have a cancer. It's really anyone who has a mutation. So anyone who finds out they have something like Lynch syndrome or BRCA one or two, or any of the hereditary cancer syndromes, they can reach out to my team. And we will work with them to notify their family members and help their family members get tested.
Catherine: What do you think will be the impact of cascade genetic testing and the programs and studies like the ones you’ve created at NewYork-Presbyterian?
Dr. Frey: I think it's, it's very exciting to see changes in my own clinic, but if we can show that this is an effective method to identify people with mutations, and can really save the lives of relatives, this is something that, [16:00] hospitals and medical practices and providers will invest in, and I think a lot of the work now will be kind of helping to implement this and, and to helping to scale this.
We spend millions and millions of dollars on sort of very exciting treatments for late stage cancers to give people, you know, months of extra survival. This is something that is so far upstream of this, you know, just to find people before that cancer.
It is so much less expensive than a lot of what we're working on with drug development. This is really just doing a little more outreach. And so my goal is that. This is something that will be kind of taken up by centers across the country and that in general the idea of reaching out to relatives will become part of our responsibility as clinicians and not asking our patients to shoulder the complete burden for this.
Catherine: I know that prevention is such a tough thing to sell people on. Whether it's insurers or institutions, Is there something about New York Presbyterian that makes this be supported?
Dr. Frey: I think that if you [17:00] explain cascade testing to someone, everyone thinks it's a good idea. I don't think anyone say it's a bad idea. But, the issue is, how to implement this. And I think the nice thing about doing this at NYP is there is really a commitment to multidisciplinary work. And so if the belief is that this is the right test for the patient and the right test for the patient's family, then this is something we should invest in.
It doesn't have to be within the narrow confines of just gynecologic cancer or just breast cancer. And I think there really is tremendous collaboration here and tremendous commitment to a holistic view of the patients and their families. And I think that's why this can work here, because ever since I presented this idea, which is now more than seven years ago. I have had incredible support, and this is a very multidisciplinary team with providers, genetic counselors, social workers, surgical oncologists, medical oncologists, primary care doctors from across the institution. [18:00]
Catherine: So, If doctors want to learn more about how they can refer a patient to the GPCP, how can they get in touch?
Dr. Frey: You're welcome to call our phone number. It's (646) 962-5100. Or if you do a search for New York Presbyterian / Weill Cornell Medical genetics or GPCP program.
Catherine: Thank you so much for making the time to speak with me today. That was absolutely fascinating.
Dr. Frey: It was great to be here. Thank you.
Huge thanks to Dr. Melissa Frey for taking the time to talk about how the Genetics and Personalized Cancer Prevention Program at NewYork-Presbyterian / Weill Cornell can completely change how we think of preventative cancer care.
I’m Catherine Price.
Advances in Care is a production of NewYork-Presbyterian Hospital. As a reminder, the views shared on this podcast solely reflect the expertise and experience of our guests. To listen to more episodes of Advances in Care, be sure to follow and subscribe on Apple Podcasts, Spotify, or wherever you get [19:00] your podcasts. And to learn more about the latest medical innovations from the pioneering physicians at New York Presbyterian, go to nyp.org/advances.
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