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Identifying Individuals to Evaluate for Referral to Genetic Counseling and Testing
  1. Executive Summary
  2. Introduction
  3. Introduction to Genetics and Gynecologic Cancer
  4. Hereditary Breast & Ovarian Cancer Risk & Prevention - UChicago Medicine
  5. Hereditary Breast and Ovarian Cancer (HBOC) Syndrome

Different types of genetic testing are available to test for hereditary breast and ovarian cancer HBOC , depending on whether a mutation has been identified already in the family. For individuals of Ashkenazi Jewish ancestry, specific testing may be done to look at the three founder mutations most commonly found in those with this ancestry. Comprehensive testing is performed when the mutation in the family has not been identified.

If possible, this testing should be done on an individual in the family who has had breast or ovarian cancer.

Executive Summary

It is the most sensitive, costly, and time-consuming test, and it is likely to identify variants of uncertain significance. Multisite testing looks for the presence of the three founder mutations that are common in those with Ashkenazi Jewish ancestry. For those with this ancestry, this is where genetic testing would typically start. Single-site testing is done when the mutation in the family has been identified; this test looks only for the presence of that specific mutation. Targeted testing can save money and time. Genetic test results are best given to patients by a genetic counselor or other health professional with special training in genetics.

Management can include—. Based on family history, you send a healthy patient for genetic counseling. The patient ultimately undergoes genetic testing for HBOC and the results come back positive. What are some possible interventions? Encourage her to share these results with other family members so they can speak with their providers about genetic testing and their risk of developing cancer. Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content.

Gynecologic Cancers. Recommend on Facebook Tweet Share Compartir. Offer counseling and single-site testing to first-degree relatives. If testing is declined, treat as high-risk for surveillance.


His or her cancer risk is the same as the general population. General population guidelines apply. Now, I do want to encourage people to go ahead and type your questions in. We're already getting quite a few questions from viewers. So we'll get to as many of those as possible. And I want to just throw out a couple of those if that's all right and we can get to those. The first question is, is this open to women of all ages? So this study actually is starting with women 40 to 75 because that's the ages at which we are recommending screening now. As Funmi was talking about earlier is that one of the things that we may learn from this is that there are certain groups of people where we should start earlier.

And if it turns out that the incorporation of the genetic background on every patient is important, that's something you can do at age 25 and when you go to implement it. But for now, we're starting this study for women 40 to But what I really would hope will be a secondary effect of this study is that everyone starts talking about what's my risk for breast cancer? When should I start screening? And if we all begin to have that conversation with our doctors and if women who participate in the study talk to other women, then we have a whole movement of women asking the question, what's my risk and when should I begin screening?

And what should I do about it? And there's more than just screening that you can do about it. One of the things that we want to know is if you are at higher risk, there are things that you can do to lower that risk, and it depends on what there-- but we've spent hundreds of millions of dollars on prevention research, and we apply very little of it. Just like you know everyone knows about risk for heart disease, the Framingham study, think about the WISDOM Study as starting out as the Framingham study or just the beginning of applying that and trying to get it into common practice, where that's something that you would do.

What's my risk for breast cancer? What should I be doing about it? How can I tailor it? What kind of cancer am I at risk for? All of that-- this is what this study is going to lead us to. I'm going to come back to a comment that Dr. Olopade made, which I think is actually personally incredibly important.

And it's not always about the fancy science that we need to know about, it's the fundamental things we need to know about ourselves. So I write a blog periodically, but started back in the mid s when my first blogs was about the importance of family history. And here I am still writing about the importance of family history. Yes, we have blood tests or we have other forms of testing that we can do to look at our risk, but before we get there, we should all know what our family history is.

And we should have doctors, and other health professionals, clinicians who understand the importance of that. I can't tell you the number of times I've talked to people who have been treated at major centers who have not even had their family history examined. So there's a place to start and we can all do that easily.

And the reason why we really love having Dr. Len on this panel is that you know can get your risk from your father's side. Because every time we're talking about breast cancer, women only think, oh, I can only think about whether my mother had breast cancer.

You need to know about your mother and father. Fantastic point. And one of the reasons why we incorporated the spit test with Color is because in fact, some people also don't know their family history because they're adopted or they come from small families. And easier even than asking-- I mean, you should know your family history because that could add additional information and help us learn even more.

But if we can pretty easily today-- you know, we have a partnership with Color Genomics who is helping us with the study. If in fact for the price of a mammogram, you can get all of that genetic information, my goodness, why don't we have it? And why don't we find the people at highest risk for breast cancer and do something about them? And maybe over the course of the study, we'll learn that the people with the lowest risk don't need as much screening or screening at all, like we do with colon cancer.

Assessing Risk

Now, we have again, several questions coming in. One of the questions is where can I learn more about this study to see if I'm eligible? And I think we do have a graphic we can put at the bottom of the screen. Its wisdomstudy. That's correct. There we go. Pop that up, and just go there, and you can learn about the study and even sign up, I believe. Is that correct? Yes, you can just go in and sign up.

That's fantastic. Another question from a viewer-- is the study restricted only to Chicago? I know the answer to that because we have people not from Chicago here, but go ahead and kind of tell how that works. So we started this study in California. At the first, we started with a partnership with the University of California Medical Centers. And we soon realized that we needed to really make it available to people across the state.

And then the Sanford Health in the Midwest joined us and they have made their network of hospitals eligible. And then we have this fantastic opportunity to partner to spread this across the country with Blue Cross Blue Shield Association. This is actually a really important part of the study. And I actually really applaud Blue Cross Blue Shield for stepping up and saying, look, everyone has a responsibility to generate the information that will help women know how to get the best care.

And I think all insurance companies should step up because this, in fact, is a very cost effective way because it helps us apply our resources in a smart way. And the genetic testing, which is a part of it, is covered. And the way we do this is covered. And we have additional partnerships where we're working on getting broader aspects. And we hope that shortly, all of the insurance companies will step up and follow Blue Cross Blue Shield's lead. And one of the things that's really exciting about this moment in time is that we have a National Cancer Institute that's been really focused on what we call the cancer moonshot.

We're really talking about we have some things that if we implement it right now, we can cut cancer death rates just by doing what we know we're capable of doing. And so having a study of , women is an opportunity for us to partner with insurance companies, to partner with institutions like ours because we have a new program-- a specialized program of research excellence in breast cancer.

And one of the things we are focused on is trying to reduce cancer health disparities. Why is it that we have such a huge gap between those of us who work in academic centers and those who practice in community centers in terms of when our studies actually get to the community?

Now with our transnational research enterprise, with the NCI funding us and saying get the studies out of there, make sure clinical trials are accessible in the communities, we hope that more insurance companies will come to the table, that more community hospitals will come to the table, and that we can answer these questions together.

You know it's interesting. I want to follow up on what you just said. It's a question I was going to ask you later in the show, but I think it's appropriate here. Why is there such a discrepancy or difference in screening for women of color, immigrant women, and different socioeconomic status women? Why is there such a difference and what can we do to solve that because obviously, it makes a huge difference? So one of the things that is happening in medicine is that we're actually looking at health systems. So we want to do personalized screening and we want every woman to have the opportunity to say, what is my risk for cancer?

Well, imagine if a woman actually wants to do that, but the health system doesn't allow her to do that. Where does she go? So one of the things we've found in going to the communities on the south side of Chicago was that there was actually no access to mammography. People wouldn't know. Even if they wanted it, they couldn't get one. And so part of what we really want to do with this movement is to not only say a woman should know about their risk, but that we transform the health care system so that health systems will begin to manage the health of their population.

They'll be able to remove any barrier to a woman getting the care that she needs. If a woman needs a lot more care because they have a high risk, then figure out how to get them there. And if they don't need as much risk, then figure out how to support each woman in the community in which they live. And that's why , women is actually not enough, but we have to start somewhere. Tim, let me expand that just a little bit because I think there is an important point that has to be made.

And what was interesting about that study was in those cancers where we can screen and institute early detection techniques, there were big gaps based on where you live.

Introduction to Genetics and Gynecologic Cancer

And that could be related to socioeconomic. It could be related to education. It certainly is related to access because we have to make sure that every person-- and in this case, every woman-- has access to the best medical care possible, no matter where they live in the country because these differences are not inconsequential.

Well, and these differences, it is a matter of life and death. Well, you know I think that you had asked before, why doesn't everyone just agree? Why isn't it so simple? Why not just screen everybody all the time? You know, I think this is the classic question. And it turns out I think it's important, especially when you have communities that don't have enough resources, you want to be smarter about how you use your resources. And I think it's important to know that screening has there's good sides of screening and there's downsides to screening. And you know sometimes when we call people back, we do a lot of biopsies, a lot of these biopsies turn out to be nothing.

But until you get that answer, you think, oh, my gosh, I'm dying of breast cancer. Or if I find a cancer that turns out to be not that aggressive, and I give people a very aggressive treatment, then I might have done more harm than good. So really the opportunity for us to start figuring out who needs what and how we can apply our resources so the most people get the most good-- that's what we want. And that it is we talk about access. If we know which populations to focus on, we can really make that a criteria.

Hereditary Breast & Ovarian Cancer Risk & Prevention - UChicago Medicine

And if we know for whom early prevention-- really figuring out how to turn the processes along or the people with the very highest risk to do preventive interventions-- that would do the most good for everyone. But so it all has to be integrated and we have to roll this out in a way that we can learn and keep learning. And women should demand this. They should demand the iPhone 15 of screening, not be on the old Motorola brick phone-- the handheld phone-- which is sort of where we are now.

And we can't make the data from 30 and 40 years ago better. We just can't do it. It's not better, but we can start today. And every woman can share their wisdom. Everyone can participate and make it better. Can I make another point too going back something. Then I want to get to some more viewers questions.

Go right ahead. Real quickly. The comment was made earlier about the insurance companies participating. Insurers spend tremendous amounts of money on treatments because they exist. And they have to be part of the solution going forward to help determine whether or not those treatments are valid. We have spent decades in some diseases offering treatments that we now know, literally 30 years later, were not as effective as we thought.

And so whose responsibility is it to get those answers? It's all of ours. Women should participate.

Hereditary Breast and Ovarian Cancer (HBOC) Syndrome

We should be open to new ideas. And the insurance companies should be providing the platform to help us do the best we can and to keep learning.

That's everyone's responsibility to change and make the future better. Sounds good. A couple more questions from our viewers. We're getting quite a few actually that are coming in. This one-- and this is kind of a Chicago-based question, but I think it's something that can be answered-- what do I have to do once I'm in this study? And this question was do I have to come to the University of Chicago? No, you don't. How does it work. Actually you sign up online.

You just watch the video. So there's two things. The first thing that we ask you is if you're willing to participate, we explain about the study. And in fact, we have you can be randomized between the annual screening and the personalized screening. That's an important way in which we learn. But if you're not comfortable with that and you feel strongly that you want to choose one or the other, go ahead and do that and you can be in our observational arm.

And you can participate that way as well. Once you're in an arm, you'll get a screening assignment. If you're in the personalized arm, you'll get a little spit kit that comes to your house, and you spit in it, and you send it back. It takes a month or two to get all the data together. And we get your mammogram, we'll get your density, put all that information together. And then if you signed up on your phone, you can do it on your phone.

You can go to a computer in a library, in a kiosk at the University of Chicago, or at Ingalls Memorial Hospital, or wherever you happen to be. If you're traveling somewhere, you can do it on your phone. So really, it's just a matter of participating. You go get your mammograms where you would normally get them. And we send you questionnaires like every year. And if we think that you're at very high risk for your age group, we're going to call you, and we're going to reach out to you, and we're going to offer you options for reducing your risk-- talking about lifestyle, talking about options for prevention, places nearby where you live to go.

So think of this as concierge for breast health medicine. You make it pretty easy. Very easy, very easy. Yes, wisdomstudy. It's easy. And we will have that again-- there it is right there on the screen. We'll have it again at the end of the show too. So just if you need to write it down, it's pretty easy-- wisdomstudy.

But we'll have it up there again at the end of the program. Another question from a viewer. I think this one is very interesting. Do you anticipate that in the future, every woman will receive genetic testing? How would that be implemented and which genes would you test for? That's a very good question.

So the work that we're doing today is going to transform how we deliver care tomorrow. And so this is why these studies are really critical and very important. Today, we know what to do because some very brave women came forward. They got involved in research. And now, we know how to screen to detect cancer early in women with BRCA1 mutation and how to prevent it because we have studied it for more than two decades. What are the lifestyle choices that women make or lifestyle issues that make a woman more at risk for breast cancer? Now, we actually have the ability to collect the data, mine the data, and then use the data to now personalize risk, so that I'm not going in there telling every woman go get your mammogram.

I tell them more than that. I tell them what their risk score is. And this is why we're talking about the polygenic risk score because the data are being collected, and now we want to test it in the population. How well does it work?

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How do we need to refine it? And once we refine it, how can we then refine what we tell every woman to do? So yes, in the future, you will have ability to personalize risk for everyone. And for us geneticists, we're thinking should everybody have their gene done the day they are born? Well, we're not there yet because we have not quite studied.