Insights into Inherited Gene Mutations & Cancer Risk: In Conversation with Genetic Counselor, Angela Arnold Ross

In our interview with Angela Arnold Ross, MS, LCGC, Genetic Counselor, we dive deep into the world of inherited gene mutations and their impact on cancer risk. With her extensive experience and expertise, Angela provides valuable insights into genetic testing and counseling, available treatment options, and essential resources for patients and their families. She highlights the crucial role of genetic counseling both before and after undergoing genetic testing, emphasizing the importance of informed decision-making. Angela also sheds light on the vast array of known and unknown genetic mutations and their significance in determining an individual's risk of developing cancer. Join us as we tap into Angela's wealth of knowledge and gain a deeper understanding of the complexities surrounding genetic mutations and their implications for cancer risk.

Amy Cohen Epstein: I am over the moon excited to talk to you today. I'm going to let you introduce yourself and tell us about yourself and your history and then we're going to dive into genetics and what that means and how your genetic history and your family history can indicate your risk for cancers and women's cancers. ….Why this is where you've decided to spend your life's work?

Angela Arnold Ross: Yeah, that's a really good question and I'll never forget it actually. I grew up in Australia, hence my accent, and I was studying for my Bachelor of Science in Melbourne, Australia. And then I remember it was the second year into the course, the professor of the Murdoch Institute came to speak about genetic counseling and I thought to myself, "I love science, I love people, interacting with people, this sounds amazing." That sort of got me on my job career path.

I subsequently did a graduate diploma over there. I'm aging myself because they didn't have a master's back then. And then came over here and did my degree at Sarah Lawrence College. I got to work over in the UK for a while in genetics and I used to work in prenatal and pediatrics but everything has led towards cancer predisposition. I feel like it's almost fate in a way, it sort of has led me to where I am now.

So it's been an amazing experience and I get to do what I love doing is sort of mixing science with interacting with people, which I love.

Amy Cohen Epstein: Tell us the real importance of a genetic counselor and what that means, especially for women, when talking about genetic testing and how a genetic counselor needs to be side by side.

Angela Arnold Ross: So things are changing in the science and the testing realm where it used to be very, I guess, paternalistic, very regimented in genetic counseling. You'd need to meet with a genetic counselor pre-test, you'd then test, and you probably would not get the results outside of meeting with a genetic counselor for a second time. But things now are changing; you can get direct-to-consumer testing, you can get other sorts of genetic testing, and genetic testing doesn't just mean a blood test for predispositions. It could be a tumor test. Genetic testing could be direct-to-consumer health tests, not necessarily a genetic test, like testing for mutations in BRCA genes.

The importance of genetic counselors, especially now, is that people are having genetic testing outside of having pre-test counseling for whatever reason and they're not necessarily getting the information they need to understand their reports.

The importance of genetic counselors, especially now, is that people are having genetic testing outside of having pre-test counseling for whatever reason and they're not necessarily getting the information they need to understand their reports. They get access to their reports and we can support these patients in expanding their family history, making sure they've had the correct testing, or giving the correct testing per the assessment. And then they've also then got us as a resource or as a support for them going forward if something's positive and we need to manage their risk and send them to other professionals, or even if they're negative and they have updates to the family histories in the future, things like that.

So we're a very good support service, but I really just think we're needed now because non-genetics professionals can order testing and it's going to happen. We can't stop that from happening. And a lot of patients would benefit from the pre-test counseling, but that's probably almost going away now.

I want people to be aware that there are professionals to talk to you about post-test answers, even if you get a report and it's negative. I actually had that recently. They're like, "I just came to see you because I think it's negative, but is it?" Because they're getting these lab reports now and they're not sure how to interpret them themselves. I feel like we've got the expertise to review these with patients as well.

Amy Cohen Epstein: Okay. Let's take a step back. So there are a couple of different avenues I want to go down with you. The first being these tests that you can order online. So without naming names, the ones where you can see all the different genetics that you carry and what mutations you might have and what they might lead to, and there's sort of a spattering of information, that you spit into a vial or give your hair and then you find out all this sort of information.

Angela Arnold Ross: Yeah, you're at risk for diabetes by 2% or something like that.

Amy Cohen Epstein: Yeah, exactly. Exactly. And well, who are you and where do you come from? You can find that out. And then what does that mean? What's the point? And in addition, what kind of genes do you have and are there mutations? And that in itself is a very scary word. I think when my kids hear it, they think of one of those Marvel movies where they're going to turn green at age something or spout spider veins so that they can crawl walls.

What are your thoughts on those kinds of tests in general? Good, bad, ugly. Maybe they're neither. They just are. And if they're out there, you've touched on and we've talked about doing those tests alongside some sort of counseling, but what do they mean for an average human? What do they mean for doing them and what kind of information are you meant to gather from them? And then what do you do with it? If you are negative, what does that even mean? Negative for what? And what do you do with that? Negative for celiac? Okay, so then you eat bread. Let's dig into that a little bit more.

Angela Arnold Ross: I love that you're asking that question because it's the future of genetic testing. So we all have two copies of every gene, one from our mom and one from our dad, and we've sequenced the genome. Yay! But we don't know what every gene does. So we've sort of got the reference human sequence out there and then we now can do some genetic testing to see and compare and contrast your sample with the "normal," I guess, human that's what it's meant to be.

And we're all going to have changes in our DNA that don't mean anything and we might have mutations that do present with something, but we're all different. So, someone who's of Asian descent, Black descent, white descent, Indian, you're going to have different changes, but it doesn't mean it affects the gene or what it does. So you have to be very careful when you're reading these reports whether it's a real variant that's going to do something or could predispose or if it's just what we call a benign polymorphism.

So if you go broad with some of these tests that they do, I think, at some of these direct-to-consumer health tests, so I'm going to get to that in a second, you've got to be careful about what data you're getting, and exactly, what are you going to do with it? What are you doing it for?

There's direct-to-consumer for health. There are these labs that are advertising. You could see if you've got slow twitch fibers or something for running and if you're healthy for this, or what you said, if you're at risk for diabetes, and they gather that information and whatever they report, they report. And I'm not a physician so I actually don't know how to interpret a lot of those and I don't know what the use is or how someone will use that to their benefit, but people are doing it.

And then you have labs that do either a mix of that with ancestry or just do ancestry. So there are ancestry tests out there that people are finding very helpful and useful just for family history. It's very interesting. But genetic tests are also available when it comes to familial things and familial risks, and it's not just in the adult world, it could be pediatrics or prenatal, where people are offered genetic testing to see if they have a genetic change or variant a mutation that is going to present with something in the future or you're predisposed to something, and then what do you do with that information?

And then there's tumor genetic testing now where patients who actually have cancer often will have a tumor profile done looking at their genes, and that's more ordered by the doctors to direct treatment options —possibly to see if someone's had cancer that's recurred or metastasized or are they likely to respond well to certain chemotherapies.

So that test is often ordered by physicians in the treating realm, but then it overlaps with genetics because when they're doing the testing, they don't filter out the familial gene mutation. So they're basically taking some tissue that's cancerous, looking if there are gene mutations, but they're looking at basically every single cell of your body. So they might report a mutation in gene XYZ, which is seen in breast cancer patients, but the mutation in BRCA1 in that tumor was not familial. [Rather it was] part of the tumor development. But they don't report that. They're reporting about what the tumor looks like.

So they don't tell you if the mutation is in BRCA1 or BRCA2 in this particular report or what's another one. APC or other genes. They report all the mutations in the genes, but people sometimes get panicked and go, "I've got a BRCA1 mutation," but you've got to look. This is where we can guide you because you've got to see, well, does that test split up whether that is a genetic mutation that is germline, in other words, familial or is it just part of the tumor development — just in the tumor? And that's where you have to determine that.

So it's getting very complex these days, reviewing these reports.

Amy Cohen Epstein: Let's assume that some people don't know all of the names and initials we're throwing out there, and so this helps a lot when we're talking about cancer and genetic mutations. Let's talk about BRCA — BRCA1 and BRCA2. So will you just give us sort of a cheat sheet on those and what they mean and what they indicate for women in particular?

it's not just BRCA1 and 2 anymore. There are other genes that have been identified that predispose to breast, ovarian, and other cancers and their gene-dependent risks.

Angela Arnold Ross: Now that the technology's gotten better, we've identified many genes linked with familial risk for cancer. And I'll now start talking more about cancer versus other things just so that we're focused on the topic. And then, again, the genes that we're discovering, it's not just BRCA1 and 2 anymore. There are other genes that have been identified that predispose to breast, ovarian, and other cancers and their gene-dependent risks.

And so I guess we're smarter, the technology's gotten better, and the testing can be quicker as well, but it's a lot of information… Instead of giving people the option to opt out of testing or looking for mutations in genes that we can manage their risk, we are more sort of, "Look, this is good information for you to know." [Patients] can still opt out of certain testing, absolutely, but that's where the discussion comes into play. Do you want to know if you're at risk for a syndrome called Li-Fraumeni syndrome, which is a mutation in a TP53 gene, which is actually very commonly mutated in lots of tumors?

There's so much to understand. And without slides, it's hard because I can give you the names of genes, but the main ones that we think about now with ovarian cancer would be BRCA1 that a lot of people have heard about, BRCA2, PALB2, RAD51C, and RAD51D. We're looking at ATM, and there are other genes that are going to be identified that provide risks, not certainty, risks for developing cancer over someone's lifetime. And it's not 100% most of the time, but it's a risk, and then how do you manage that risk?

But importantly, what I'd like to say if you'd like to include this in is I also think the lingo between patient and doctor or healthcare professional, people should be aware of the way information is presented because "I have had genetic testing" can mean many things. You could have had tumor profile testing done. Patients don't realize they haven't had a proper clinical familial test; the data is in there, but you have to take it out. I've had genetic testing, they send a, I won't use names of companies, from an ancestry place or a healthcare gene test. That's genetic testing, right?

You need to understand that there are different tests and you may not have had the right test for you and we need to just at least inform patients what they've had and explain it because it's complicated.

And then the other thing that is something that doesn't help on television is when they say, "I've got the BRCA gene," and, "I've got the BRCA1." Everyone has BRCA2 genes, BRCA2 genes, as I said, one from mom, one from dad. But what people are talking about when they're talking about risk and management, it's whether you have a mutation or a change in those genes that you've inherited from your mother or your father that predispose you to risk. So I'd love to get these television programs to get someone to consult with them and say, "Just make it a bit clearer what you're talking about" because it's just a better understanding I think of what's going on.

It's just a minor thing, but it's important to know that there can be changes in genes that you could identify that are inconclusive. They're called variants of uncertain significance. And that's another reason often people are sent to us now post-test because the people who order the test don't understand what it means and we've got the resources and the knowledge to tease it out, take the family history, is it significant, what does it look like, things like that.

And to your point about a negative test, and I think we spoke about this when we first met over the phone, is even a negative test — while it can be great news to families — if you've got a really strong family history, there may still be recommendations to do certain things to manage risk because we don't know everything. And if there's a striking family history of say, ovarian and breast cancer in families, striking to the point where we're like, "I can't believe we didn't identify something," you've got to be provided high-risk recommendations regardless.

And you don't want to miss those people and say, "Yes, I'm negative," which, again, is great, but you want to make sure the right person was tested because if someone in the family hasn't had cancer but their mother passed away of breast cancer at 30 and they did a test and it was negative, we don't know that mom had a mutation to begin with and what that was. And if you are negative because you were going to be negative because mom didn't have a mutation or it's a 50/50 chance you would be negative anyway. It's all about context and assessment and it all pulls together.

Patients push back a lot sometimes because it is depending on family dynamics, it's hard to get, but know your family history, try and get ages of diagnoses, and try and confirm the cancers in the family.

So I guess the summary really would be a genetic counselor or genetic professional provides a cancer risk assessment based on a detailed family history. Patients push back a lot sometimes because it is depending on family dynamics, it's hard to get, but know your family history, try and get ages of diagnoses, and try and confirm the cancers in the family. Something that's very striking is if a cousin had ovarian cancer at 45, but then you say, "Could you get a pathology report?" and it was cervical cancer, not taking away the diagnosis and the impact of cancer at all, but from a risk assessment, that takes that concern off the table, and that can be more reassuring to someone…

So then after the genetic risk assessment, we either test or review testing that's been done, and make sure the testing is complete. Say someone comes to me and they had testing back in 2005, I'll be like, "Oh, you have to," depending on the family history, most likely, "please update your testing." And so we need to know the dates of these reports, so get copies of these reports just to see because years ago, it was just the Jewish panel, the BRCA1 and 2 Ashkenazi Jewish panel. There are three mutations in BRCA1 and 2, just in case people aren't aware. There are two changes in the gene and BRCA1, and there's one in BRCA2, and it's more prevalent in the people of Eastern European Ashkenazi Jewish ancestry. So those were the three because they were more common, they were the ones that were kind of researched first, but then we've obviously expanded and many people, everyone's at risk unfortunately for BRCA mutations, but we've got a lot of data and research on the BRCA genes now and we can manage people's risk.

And it's very personal, it's very individual discussions that we have. We try not to just put people in a box if we can avoid it. But there's a lot more positivity in respect to if you developed cancer, is there a targeted drug that could help you? There are these targeted therapies now that are proving to be great, God forbid you get cancer. It can lead to cascade testing for family members. And we sort of can help coordinate these for family members. We can either recommend a genetic counselor. We've got the National Society of Genetic Counseling has a find-a-counselor link. So if you're not... I like to see families when possible…

And just to be aware that there are other genes now. And so if anyone who's listening to this had testing back in 2005, 2015, it never hurts to review the report and just see if things have updated or if anything's changed in the family history, just to see if there's a change in recommendations.

Amy Cohen Epstein: Walk me through it a little bit more in-depth. So let's say we have a woman like myself: My mom was diagnosed with ovarian cancer at 48 years old. She passed away at 53. She tested negative at... I mean, this was 1998 when she died, 1993 when she was diagnosed, so her testing was done mid-90s. I don't know exactly when and I don't know what she was tested for, to be honest. We were always told she was negative for a BRCA mutation.

And I know what I've done, but let's assume I've done nothing. What would you recommend for me and my two sisters? We're all of the same mothers, but my older sister has a different father. 25 years later, in 2023, let's say we had testing done in the earlier 2000s.

Angela Arnold Ross: Yeah, let's do the modernization, the update discussion. So the genes were discovered in about '93, '94. And I know that, again, we were offering the Ashkenazi Jewish panel, which I think you guys have-

Amy Cohen Epstein: Which we are, yes.

Angela Arnold Ross: So it's most likely she definitely, your mom had definitely had that testing and that might, if it was that long ago, that might have been the only testing she'd done. And back then, I don't know if they were doing additional testing because we've learned so much more information.

So if you came to me with that family history and that information, I would try and get a report to see what was done but recommend updated testing via a more expansive panel that includes breast and ovarian cancers as it pertains to the rest of the family history. And depending on family history, sometimes we've got to add on random genes because you've told me someone had ocular cancer, which there's a gene called BAP1, very rare, but I've picked that up in a family history. So we're able to do that risk assessment….

What I'm saying is if you saw me and I took a family history, we would say we'll definitely have to update the BRCA, make sure you had a complete screening, and do the rest of the breast-ovarian genes as it pertains to the risk of because of your mom. But it's not just ovarian. There could be other things in the family that might lead us to add or change the testing….

But definitely update the testing and make sure that there isn't a gene that's been missed that could be important to determine in the family, and that's probably not going to happen often. But I've definitely had families come back and they've had a BRCA1 mutation and then a TP53 mutation in the family.

Amy Cohen Epstein: Which is what?

Angela Arnold Ross: That is Li-Fraumeni Syndrome, which can involve breast cancer, not ovarian cancer much, but very early breast cancer, leukemias, lymphomas, and brain cancers. It's a very tough syndrome, but we now have management strategies for patients with this syndrome. So we manage those risks and guide them to the best doctors or services that they need to do to reduce their risk of developing cancer.

Amy Cohen Epstein: And what is your take on a preemptive strike with genetics and finding mutations in your body as opposed to learning about your family history and knowing and looking into it and saying, "Oh, I think I'm at risk for this because my mother passed away young," or, "I have four grandmothers or four grandfathers that all had testicular cancer," as opposed to, "I have no idea what my family history is. I don't care. I'm not going to bother with that. I just want to know everything that could possibly happen in my body and I want to figure it out at 22 years old and then know everything"? As a counselor, what's your take on that?

Angela Arnold Ross: That's a really, really good question because again, back to aging myself, back in the day, we were very strict about not testing young people for BRCA1 mutations in their teens or 20s if there wasn't a family history because that was scary. They're young. There were a lot of rules around testing for the mutations and if you didn't know about it. And also, we would only really recommend testing an affected family member. So we probably wouldn't have tested you, Amy, if you came to us….

But it's sort of gone away from that now where we do test unaffected family members. We recommend testing family members that are affected if possible because, again, if you've got a negative test, there could still be a mutation and you didn't inherit it. So the luxury, so to speak, of genetic counselors being able to hold back results and share them, especially with the younger ones that I do see, patients have been tested at 19 for BRCA1 and an ATM mutation that was totally unnecessary, but it happens. It's going to happen. So then it's a case of making sure they've got the right resources, they're ready to hear the results, who can they be in with? We can't really stop that anymore.

There's also the Care Act that's just come. I don't know if you've heard of the Care Act that just sort of came into play where now the ability for us to hold back results is now not possible. So as soon as the results are signed out, you'll get them at the same time as your doctor. So I've started preparing patients for that, just to know I have no control. If you want to open them, do, and then call me or contract with them to see how they want their results. They're adults, most of them, so it's up to them. And I've had patients who said, "No, no, no, I want to speak to you. We'll open them together." And that's just the way sort of it is.

But it depends on the context. But testing a 20-year-old who doesn't know anything about the family — say they've got a lot of family members but is 20 and just is very anxious and wants to have a genetic panel run for cancer or for whatever reasons. They should sort of speak to a genetic counselor first to get context and understand why we wouldn't necessarily recommend that because there's the risk of uncertain variants that we don't do anything with, and that may... If they're so worried at 20 for something that isn't really indicated, that might not be good for them. And then if there's a gene-associated risk, if it comes up at 50, their risk, and they're 20, there's nothing that we are going to do for them until at least 30, for example.

We listen to patients. We don't deny patients care or testing. And in fact, I've gotten to the point where I say, look, insurance isn't going to cover it. We consider this low-risk.… If the doctor that I'm working with agrees, we can try and get it covered by insurance, but it's probably not going to be covered, or you can find a direct-to-consumer lab that is a good lab….And then the results will come back and then they can meet with the genetic counselor and review them. Either they've self-paid because it's cheaper, like $250 now to do some of these tests, especially if it's not covered by insurance. And I think we have to embrace that and I want to be there for patients who get these tests outside because it is all about interpretation and looking at the family history. And look, we have patients who are adopted and develop cancer and we have to just wing it and sort of see what we should be doing.

But the important thing also is most cancer is not familial. Most cancer does occur by chance. But I know with your family, and if you see young cancers in multiple family members, it's never hurt to meet with a genetic counselor or specialist to get a view or a take on it and to give you a perspective of what it means or what they might.

Amy Cohen Epstein: Absolutely. And you're going to make these huge decisions based on this idea of a potential mutation in your body. And men and women, and speaking for women, if you find out you're at a significantly increased risk for ovarian cancer, breast cancer, I've had women before they've decided... They're single in their 20s and they want to get married or they want to have kids and they are talking about major surgeries to combat, "Take away my ovaries before I get ovarian cancer." And these are life-changing decisions —

Angela Arnold Ross: But they're real…. I always say, "Look, I'm talking to you clinically, but I can't take away your anxiety that your mother passed or was diagnosed at 45" because I bet at that age, when you got at that age, that was a scary time for you because it's family and family history. And we try and let them know what their options are and what's realistic and what isn't, and send them on to the right physicians to make those decisions. Do they want to have a mastectomy in their 20s? Depending on the family, is it unreasonable or reasonable? There are things about that that have to be talked about.

But look, if their mother had ovarian cancer at 30, for goodness sake, which is very rare, but can happen, I don't blame it if someone young wants to consider, what can they do? And we probably wouldn't take out the ovaries, but you could consider the fallopian tubes or something.

But [we’d encourage them to] meet with a specialist who would talk them through those sorts of concerns because I think immediately you get all anxious and worried, which is absolutely fine, normal, but it's all about getting things into perspective…. There are so many things that can come into the discussion that we have to take into account, the individual discussion. It's not just, "Okay, you're negative. Great, don't worry about it." It's not that anymore.

Amy Cohen Epstein: And I think going through it without a genetic counselor is just... It's just torturous. It's just horrible. It just kills me that people do that and so many people don't know it's an option.

Angela Arnold Ross: Yeah, it's hard to understand because I do it all the time and sometimes I'm thinking, "Oh, people know about this." I'm like, "No, no, no. This is why I'm speaking to people because different areas have different accesses to different resources." … There are companies that do remote phone calls. Some of the labs do provide genetic counseling on the phone if you do a direct-to-consumer. A lot of the time, that happens, but then they like to come in person to meet with someone at a cancer hospital or a cancer genetic center to get more clarity or to get a real family history done.

I have to embrace these panels and genetic testing and the way things are going, but you've got to be aware that they're kind of fishing….It's all about context I guess. And I just get so worried that people are going to miss something…

Amy Cohen Epstein: And like we said, the more information that we find, the more we find, and so it's a lot. And I've been in rooms with very highly educated people who don't know what we're talking about and it doesn't mean that they're not knowledgeable. This is not their sphere of knowledge….

And also, family history in itself is very tricky and not everyone is forthright with their own bodies and what they experienced or talking to their children about it or the way it's documented. You can have great-grandparents who died of something, but who knows what that was, something in their stomach or the way it was passed down orally through the generations. And so it's very hard to know and it's very hard to remember and it's very hard to say.

Angela Arnold Ross: And people don't. It's family dynamics, right? "Oh, I don't speak to my sister. I don't want to ask." And so I do try to encourage patients to find out as much as possible. But look, don't stress, but it is going to help us at the end of the day…..

I would just love for people to understand that there are genetic counselors out there available, be it on the telephone or even the labs that are doing the testing can likely provide it if you're not getting the answer from your physician who will likely refer you anyway to a genetic specialist if something comes up or if they're not sure that a negative result is... They should still be doing something if they have a negative result such as an extra breast screening if they've got a strong family history, et cetera.

Amy Cohen Epstein: Yeah, definitely. And there's so much trepidation. I think you have a very large part of the population, especially nowadays, that wants to know everything, that are wearing Oura rings and have on their Apple in their phones and they want to know everything going on in their bodies at all times and how much they've slept and what their resting heart rate is. They want to know every single piece of information.

And then you have a huge part of the population who wants to know nothing. They just want to live their life and go through it and whatever happens happens. And then there's, I guess, a big part that falls somewhere in between.

Angela Arnold Ross: Most people I've found are very happy with gaining information, but we definitely have patients who are like, "Oh, I don't want to know that. I want to know the minimum," which is fine, but a lot of people are very open to more tests because information's power, "I want to know more." But you still have to address the people that aren't okay with that as well and how hard it is within the family. It breaks my heart when I hear that a cousin had a mutation tested years ago and didn't tell the side of the family until they got ovarian cancer. It's happened. And I'm like, "Oh." It just upsets you so deeply that you just didn't share the information.

Amy Cohen Epstein: Siblings, you know? Yeah, yeah. And also, that sense of knowing beforehand, if you're going to go through testing and you're going to meet with a genetic counselor, making some sort of decision beforehand within yourself, if I'm going to go down this road, what am I going to do with the information?

And I even remember for myself, I think it was my second child, I was going to have an amnio and I had a genetic, I had a... Oh, what was it called? I had a weird thing with my pregnancy…

I was living overseas and a friend's dad is a doctor. And I asked him, I said, "Well, should I have an amnio?" And he said, "Only if you're going to do something about the pregnancy if you get information that is less than optimal. Otherwise, don't because you have to fly overseas and the whole nine yards." And I was like, "Oh, I have to really think about that."

So that stuck with me for my whole... He's now 17 years old. But it stuck with me because I was like, "There's some information that you have to decide ahead of time, what am I going to do with that information once I get it?" Because if I'm not really going to do anything with it, then what am I going to do and who am I going to tell? And then I have to sit on it and hold it in and it's going to affect more than me.

I don't know. And I have seen that too.

Angela Arnold Ross: Well, that comes into play a lot. So there's a syndrome called Lynch syndrome that people, it's actually more common than hereditary breast and ovarian cancer, which is mutations in the BRAC1 and 2 genes, that does predispose to uterus cancer, ovarian cancer, colorectal cancer mainly. There are five genes. And depending on the gene, there can be fewer or more risks. But we are finding more patients are being identified with these through panel results, which is considered a good thing. But then some of these, we literally are finding, you would look on paper and you'd never would've added those genes if you didn't.

So there's that side of it that we are probably catching some people that we wouldn't have before. But then as you said, it's like, what are we going to do with the information? And honestly, some of these panels, and I've been doing this for over 20 years, the genes on there I haven't heard of, and I thought I was pretty up-to-date. I'm pretty up-to-date with things and a lot of that's they're probably researching the gene, which eventually might come to do something, but as long as they're aware that that's out there, and if something comes up inconclusive, it could change in the future, it could go up to be more significant, it could go down as benign. Things like that can change.

What you were talking about with what we do with the information is when I speak to the younger adults, like kids 18 to 25 or even up to 35 who haven't yet had their children or are planning on it, et cetera. It's like, okay, there is this mutation in a gene that predisposes you to breast cancer. So we'll say, "There's a gene called ATMs." Let's use the ATM gene. “The ATM gene provides an increased risk for breast and pancreas cancer, but later than the BRCA genes.”

So if a 19-year-old comes and says, "Oh, mom's got an ATM mutation and I'd like to test for it," it's like, "Okay, we could test you for the mutation, but what are you going to do with that now when you're at high school, you're at college? You've got to live life." Again, I can never say that you're never going to develop breast cancer, but it's not a fully penetrant gene. You're not destined to get breast cancer or other cancers linked. So, "Just think about it, think about how you'll sit with that, and come back to us in a couple of years if you want to sit on it. That's okay." And make sure the doctors are on the same loop as well. And there can be different layers to that, depending on the family. But generally, that's the discussion I have with the younger ones if it's not at the right time.

And even for BRCA, and again individually, you're not going to be doing breast mammograms before 30. You might do MRIs, but in a 20-year-old, what do you do? And sometimes that comes down to family history and the team works together. We work very closely with our colleagues and the breast team and figure out individually what that person has to do. But if you're going to sit on a result because you don't need to have anything done for 10 years, how's that going to be for you ?

And actually, now I don't want someone to test outside of a genetic counselor because back in the day, we'd say, "Nope, not going to test you," or someone, a mother who just gave birth to a child who's got a, say, BRCA mutation, "I want to test my child." And it's like, "No. No, there's no need to test the child. Nothing. It's their autonomy when they get older." But as a parent, it's hard. And we were very strong about that and I think we are strong about that now and that's sort of a... What am I trying to say?

It's sort of an extreme example, but look, anyone can get testing. If you want to get testing, obviously you spit in a cup and you find a lab that does testing. But what we like to know is that you're testing at a good lab that's CLIA certified, that we recognize it. We've had some reports from labs we've never heard of before. We're not sure. There are direct-to-consumer labs that report that they're allowed to report just the AJ Ashkenazi Jewish BRCA mutations, but I don't think there are many other genes they're allowed to report. So people have to understand that that's all they're getting. Just because that's negative, it doesn't mean they've had a full screen for that if it's indicated.

Additionally, [the problem] with a lot of these direct-to-consumers — I'm preparing a presentation so it's in the forefront of my mind — is that a lot of patients are trying to get what we call the raw data from these direct-to-consumers. So they can go to these programs out there and it comes up with... I can't, it's gobbledygook, but it looks like when they read this report, "Oh my gosh, I've got two BRCA mutations and I've got two BRCA2 mutations." Because they're reading it and they don't know how to interpret it. And then they bring it to us and we're like, "No. Let's test you clinically in a clinical lab." But it's going to happen and we're not going to make you feel bad for doing it.

It's out of context. I do think knowledge is power, but everyone's not that way, and it's everyone's choice and we'll respect that. But I think it's all about informed choice. And if it's not going to come pre-test, which again, is likely what's happening in the future, and some people will ask for it, it'll be offered for it, but some people will just do it. We will still see you regardless. We don't take it against you if you've done your own testing or anything like that. We are there for you.

I want to do some local community presentations where I am in New Jersey to the doctors to get them to have a better understanding of what they're ordering and testing because I had a gynecologist tell one of my patients that Lynch syndrome wasn't linked with uterus cancer, it was linked with breast cancer, which is like, "No." And it was a gynecologist. It's misinformation and social media [is] not helping either.

Amy Cohen Epstein: It's educating everybody. It's educating the medical community. It's educating everybody. It's educating men, women, and everyone. And that's really important, so it is part of your job.….

Angela Arnold Ross: My big thing to people I say, even my friends and anyone I'm talking to, is to write down any questions you have. The doctor's there for you. You're not going to bother them. You're not affecting them. You have to know. If you are concerned about what they said, try and see if it was framed differently or if you heard it differently. That happens all the time. Never assume. This is a big thing. And never assume your genetic report got to the doctor. I would always keep copies of everything. Take everything with you. The resources are there for you. Ask for them if you're not given them.

But definitely advocate for yourself. You know your body, you know what's wrong for you. As they say with ovarian cancer, it's not a silent disease. It's subtle, and you know what's wrong for your body. So anything that's unusual after three weeks, because again, it's not laughable, that's the wrong word, but when you look at the signs for ovarian cancer, every woman has had issues of constipation, diarrhea, bloating, and pains. It's like, "Oh my gosh." But if that continues more than what's normal, push for the doctor. You have to know and push for it.