Hello and welcome to breast cancer conversations, a podcast brought to you by survivingbreastcancer.org. I'm Laura Carfang, breast cancer survivor and founder of survivingbreastcancer.org, a nonprofit organization providing community, education, and resources to empower those diagnosed with breast cancer and their caregivers from day one and beyond. Happy New Year, everyone. I hope your 2020 is off to a great start. I had a very busy last few weeks, as some of you know, I was traveling to Santiago, Chile. I was in Texas for the San Antonio breast cancer symposium. And then I got to head back to Chicago to visit family. I also held a little meet and greet and had a couple of dinners and meetups with some breast cancer survivors and thrivers and caregivers who are in the Chicagoland area. A huge shout out to Andrea and Miranda. It was great. This week's theme is on genetics. We sent out an announcement today in our newsletter that I want to share with you as well, in case you missed it. Well, first of all, if you're not already subscribed to our newsletter, please head over to survivingbreastcancer.org to join our mailing list. And the newsletter we send out today. We send it out every Monday actually. And today with all things being new and exciting in the start of the new year, I am pleased to share that our organization surviving breast cancer.org will be conducting its first research project. Specifically, we are taking a close look at the ethical implications associated with genetic testing as it relates to breast cancer, the diagnosis as well as a predisposition. If you're interested in participating shoot me an email at laura@survivingbreastcancer. org and we can chat more. In today's episode, we have a few special guests on the show. Be sure to listen until the end to meet one of our volunteers, Maddie Sabhanyagam who asked some pointed questions to help us understand the role culture plays in genetics. But first, we have a genetic counselor Fatima Amir with us. Fatima and I met at a B prep workshop taking place at Dana Farber. B prep stands for breast cancer personalized risk assessment, education and prevention. It's a program which helps high risk individuals understand their chances of developing breast cancer in guidance through strategies, lifestyle changes and risk management to decrease their chances of developing breast cancer in the future. Part of the workshop involved an educational session led by Fatima where she discusses the opportunities for genetic counseling and testing and why you may want to consider scheduling that appointment. Today, Fatima and I discussed the BRCA 1 and 2 gene mutation, the importance of knowing your family history, understanding the statistics and what lifetime risk actually means. Plus, we take a deep dive into understanding our genes, the future of genetics with the advent of artificial intelligence and so much more. Fatima received her MS in medical genetics from the University of Cincinnati and Cincinnati Children's Hospital, she joined the Center for cancer genetics and prevention at Dana Farber Cancer Institute in 2018. She provides genetic counseling services to adult patients across a wide range of specialties. Fatima has a special interest in providing culturally competent care and improving access to genetic counseling services among diverse groups. Fatima is interested in Community Medicine and sees patients at the Dana Farber community Cancer Center at the Whittier St. Health Center. Welcome to today's conversation.
3:30
I'm so excited to be part of this conversation. And you know, I think it's nice to kind of get the voice out of also from the drug counseling perspective, and I think we're not a lot of people know, genetic counselors exist, I think partially because genetic testing is something that is only in recent years starting to become more and more commonplace in the whole healthcare model. And so I think it's, it's exciting for me to be able to talk about what we do.
3:54
Today you're actually one of our first genetic counselors actually on our show also. So this is the first time --Oh, that's exciting.--And surrounding breast cancer.org, who's like the nonprofit of which this podcast comes out of is pretty young organization as well. And so we started this maybe about two years ago, two and a half years ago when I was diagnosed with breast cancer. And I've coined this term of like it's an SBC first, because every month every day, like there was something new that hasn't happened yet. So this is one of those SBC first moments.--Yeah.--Having a customer on the podcast.--Absolutely.--So excited about that.
4:30
Yeah. I'm very excited to be part of it, too. So thank you for having me.
4:35
I had an opportunity to come to Dana Farber and participate in a series that I think is coined, like, b prep.--be prep
4:42
Yeah. They hold a symposium, I believe annually, where they have kind of a series of different talks and one of the things they have also is a genetics kind of workshop. So kind of a breakout session where we can learn about genetic testing and who's should be getting genetic testing and so yeah, that's where you know, you attended workshops, I was really happy that we connected afterwards, was happy to talk about genetic testing, we absolutely have a lot of communication. I feel like between the genetics department and a lot of the other oncology groups, because at the end of the day, lots of those groups are the ones that are referring people out to us to genetics, and so definitely lots of great pain of multidisciplinary care that we aim for and.
5:23
Oh, absolutely. I do understand that it was geared towards those who do not, who do not have breast cancer, but potentially have a lesion or some sort of higher disposition to potentially developing breast cancer.
5:36
Absolutely. A lot of the women who are followed and be prepped to my understanding are people who have something about their so something like for example, something called ADH or atypical ductal hyperplasia, you know, something like that, that can increase their risk of potentially developing breast cancer. So oftentimes, that might not actually necessarily be a hereditary predisposition. But sometimes, you know, people do come end up coming through the b prep clinic that there's something about their family history or their personal history that might raise a flag or two about, you know, does this person should this person potentially be considering getting genetic testing, and that's when some people get channeled over our direction to come meet with a genetic counselor to talk about the option of genetic testing, to kind of explore that a little bit more.
6:21
And I think that really lays the framework for this conversation, because there's so many different populations of people who are interested in genetic testing, and or honestly never ever heard about, heard about it really, until my own diagnosis. I mean, I've seen the ads on TV for like, you know, ancestry or 23 and me, or like, the more commercial side of this new opportunity to learn more about ourselves, but not so much in a proactive way of one in terms of like disease and diagnosis, or predisposition to it doesn't have to be cancer, to be you know, any type of like diabetes or other type of hereditary family concerns. And then I have a whole population also, which I know are some of our listeners are those who have been diagnosed with breast cancer already and have now gone through genetic testing. And they are sitting on information and right, I think that's another piece of the navigation of one is an option for me not to get genetic testing, should I do it? Yes or no?--Right--And then kind of like that labyrinth of--Okay,--if I do it, how do the results come back? How do I interact with them? What's that whole process? I mean, I have more I could spend this whole hour. Let me stop there. Because that's, I think, super informative, just to kind of shed light on what genetics is.
7:39
Exactly. Yeah, that's a good you know, and one thing I always I feel like sometimes I like to step back in our in my sessions that I have with my patients and just remind them that when we think about kind of, if we put everyone kind of in this pie chart of all the people who develop cancer, only about five to 10% of those people will actually be identified to carry a genetic meaning upon doing genetic testing for them, based on kind of the figures we have right now, so the vast majority of cancer is typically just what we call sporadic meaning it just kind of happens. Sometimes it can be due to some kind of, you know, lifestyle factors or environmental exposures. But oftentimes, it can also just be because nature isn't perfect. And we talked about this in our little workshop to where, you know, sometimes just our cells can create an error in the replication process and form into a cancer cell. But what we are doing in genetics is trying to identify with genetic testing whether or not someone falls within that five to 10% category of people who do actually carry a mutation or a change in, in their in one of their genes that increases their risk to develop cancer or the general population. Because there is benefit in knowing that in terms of not just sometimes it can be helpful for the actual patient themselves if they have a cancer diagnosis for themselves in some cases it can actually help guide some treatment decisions. But for oftentimes, it's also really helpful information for family members. So a thank you, you made a good point about like, you know, there's this element of genetic testing where we hear about a lot in the media in so many different forums. One thing I think, from a breast cancer perspective, I feel like that brought shed a lot of light on kind of breast cancer genetics was the whole Angelina Jolie situation where, you know, she was found to have a BRCA and I, I am not that up to date with pop culture. So I can't really say BRCA 1 or 2 mutation, but she had one of the BRCA, you know, mutations. And, you know, I remember that was that, you know, we still have this term called the Angelina Jolie effect where a lot of people that was their exposure to knowing that they could potentially have been born with a hereditary predisposition for cancer and that they should, you know, might want to consider genetic testing to help guide their care.
9:54
Absolutely. And what about your statistics that you're just mentioning? So between five and 10% Hmm. Show predisposition through family history or hereditary genetics. Exactly. And is that for the general population of just cancer? Is that specific to breast cancer?
10:08
So that's a good question. It's, it can be generalized to all cancer as well. But specifically for breast cancer, those numbers probably look the same as well, between cancer types, that number can look a little different. So one of the things we see it a little bit higher for, for example, is ovarian cancer. So that's why anyone with an ovarian cancer diagnosis, typically, here, we're testing all of our ovarian cancer patients, or recommend testing for them. They automatically do meet criteria like there's this national criteria that we sometimes follow who should be meeting criteria to get BRCA 1 and 2 testing. And so anyone with an ovarian cancer diagnosis should be getting that because 20% ovarian cancer can be hereditary. So we can identify exactly it's a little bit larger than that five to 10%.
10:54
And vice versa, that if you've been diagnosed with breast cancer, do you have higher risk potentially then for the ovarian cancer.
11:03
So that's a great question. Yeah, so the breast and ovarian cancer, oftentimes people, you know, they can be linked. And the reason that they're often linked I think in our mind is because the main breast cancer, hereditary genes that we know BRCA 1 and 2 which actually fun fact BRCA was for breast cancer. So that's how the genes were named. Yeah. So.
11:24
Yeah, exactly.
11:26
So with the BRCA went into genes, the main risk obviously associated with them is for female breast cancer, but the second largest risk is for ovarian cancer. So that's one of those genes where you see an increased risk for both of those things. There are other ways in which those you know, having, for example, you know, your ovaries removed can potentially reduce the risk of breast cancer. Now, that's not obviously a one size fits all statement. You also don't want to be recommending people get their ovaries removed unnecessarily. It's also important not to undergo menopause, you know, unnaturally earlier since that can also have its effect. Kind of effects. But, you know, there's definitely a link there in terms of, you know, with the BRCA 1 and 2 genes, there's an increased risk for both of those things. That's why they're often linked.
12:10
Absolutely. It's something we hear about and talk about a lot in our breast cancer community. And we've done stories and other podcasts talking with women about how do you navigate even that decision of your body had just been through so much with a breast cancer diagnosis. Now you're carrying a gene? Are you considering a full hysterectomy? And we've been fortunate enough to hear all sides of the story, and it's not black and white. And there's a lot of vetting and you know, just think having these conversations have to come to terms with it.
12:38
Right. Absolutely. And I think one of the things so with the BRCA 1 and 2 genes, for example, you know, the the hysterectomy, typically with the BRCA 1 gene, it's a little bit earlier the age that we recommend someone meet with their gynecologic oncologist to talk about the option of the hysterectomy. So it's, you know, they say past childbearing age, quote, unquote, but really what they're saying is past 35 to 40 is that age range they quote by national guidelines. And then there is for the BRCA gene 40 to 45 is where we start having that conversation. So, you know, we also know that the risk for ovarian cancer and recording the risks associated with the BRCA 1 and 2 genes, oftentimes recording lifetime risks. So that risk number can look pretty high. But really, if you broke down the risk and look at models that show you the risk by age, it's actually much smaller over those like five year intervals, potentially. So sometimes I've, I've often pulled up the risk model we might use for that to show people like okay, you know, even if you carry this gene mutation, this is why we're not recommending you remove your ovaries immediately because really, the risk is very, very low in the next five years for you to develop ovarian cancer, for example. So we it's absolutely fine to wait till you know the age that we would recommend removing it. And I think, you know, speaking of removing parts, you know, ovarian cancer, obviously because it's just one of those cancers unfortunately that doesn't have a really solid form of screening that we know of that works. That's why there is that recommendation to remove the ovaries. But with breast cancer risk, it's a little bit different. So even though there is a high risk for breast cancer for individuals who have a mutation in the BRCA 1 or 2 genes, it's not, it's not absolutely necessary for them to have to remove their breast. So that's something that I feel like with the Angelina Jolie effect, you know, she chose to have a prophylactic bilateral mastectomy, meaning she removed her breast tissue. So a lot of people had done this, this concept of if I carry a mutation, does that mean I have to remove my breasts and that's not true. You know, one of the things that, you know, there's also the alternative option to that, which is to just have high risk screening. So that's where you're getting not just annual mammograms, but also annual breast MRIs. And the data shows that the survival rates are the same between the two, which means they're both good options. So there's really no difference there. It's really just comes down to I like to tell my vision I mean, obviously They will meet with their, you know, surgical oncologist to figure out or their oncologist to make the actual decision. So they can go into the nuances of it. But from, you know, just from a general kind of perspective, the way I like to put it is it really just comes down to a person to person choice with the surgical removal of the breasts, it's what we would call a risk reduction surgery. So you're reducing the risk of a new breast cancer by removing the breast tissue. But with the screening, we're really just trying to go for early detection. So you're you're not necessarily reducing the risk of any breast cancer, but you are increasing the chance of an early detecting something at an earlier stage, which can really change the outcome.
15:39
You brought up so many. So I mentioned lifetime risk. I think that's a really critical point to kind of hone in on a little bit more. Yeah. And with regards again to these statistics, because that's a lot of what people have been asking they want to understand, like, what my risk is, and I think the moment you say a number they do harm into this, myself included like a fight or flight, right? Like, I carry a gene, I need them removed tomorrow put me--Exactly, exactly.--So you're saying like not necessarily let's look at the data in the long term lifetime risk.--Absolutely.--I'm kind of picturing that, like exponential scout like,
16:16
Right. There's, yeah, there's so we there's what I usually use in my clinics is something called the ask to me model. So there's a website, we can go onto typically that I'll pull up with some of my patients often and you kind of enter the age that someone is and what meet what gene to have a mutation in. And then it can kind of not just make some of those graphs kind of like you described, but also put these tables like okay, in these five year intervals, what is kind of the risk that, you know, exists potentially. Now, obviously, it has limitations of it being a model, and there are things about a family history that could potentially be changing some of these risks too, but it does give I think, a really nice layout and a visual kind of representation for a lot of people that you know, Even if we're quoting a lifetime risk, say like 20% or 40%, whatever that risk might be, we're not saying that that's the risk every single day, right? Like you're, that's, that's a lifetime risk over, you know, lifetime studies that have been done. But you know, the actual risk within the next five years for people your age is this tiny number right here. So I feel like that does definitely help people feel a lot better about their, you know, that their risks aren't maybe as high as they might be perceiving at--some time to do their research.--Exactly, exactly. And I think it can, it can definitely help put people at ease to you know, ease their mind a little bit as well. And, you know, like you said, I think sometimes there is that mindset of, you know, like, I need to just take everything out right now. Like I need to be doing something about this or you know, sometimes that feeling can occur understandably and so that I think kind of rationally puts things into perspective that you know, what, this is not something that is as high as your risk perception has right now. It's it's still a relatively low risk and we need to look at the pros and cons of you know, proving your ovaries at such a young age might not be a good idea because it can affect your bone health and other things as well. So we want to make sure you get as closer to the natural age of menopause as possible before, you know making a decision like that.
18:13
Absolutely. And speaking of risk that right now we assess like the lifetime potential. And then the different types of if you're high risk, then the opportunity for more screenings, more regular screening. I was talking to a woman once and I don't know if every hospital or going back to like standards and guidelines is like this, but she was saying she was getting screened every six months. So when you were saying one year would be the mammography, and then the second year or within that year, six months later, it would be, as they were staggered. So she felt very confident every six months having some sort of test, just to monitor her.
18:48
Absolutely. And I think that's where it goes down to is you know, I've met people who are very adamant on you know, that they don't want to remove their breast tissue that they would feel much more comfortable have much more peace of mind with the screening route. But I've had the complete opposite to where people come in saying, You know what? No, I just want, you know, to go ahead with that option. I know how to do that if I do test positive, and, you know, I think that's where it comes down to every person has a different story of what different level of comfort with what they're comfortable with. But, you know, the good thing is, is that we do have those options, particularly with breast cancer with chemo. Both of those things are really good options. And so that's that's definitely I think, reassuring in some ways.
19:26
And then there's a whole handful of us who have finished active treatment and really pleased to meet me, please screen me. Don't do that.--Right, exactly.--Yeah. You don't have a spectrum.--Absolutely. Absolutely.--And so a lot of the time topics of like screening, you can meet with patients, and you know, whether it's a family history, and to do a panel of genetic testing, as well as if you had been diagnosed with breast cancer. A couple of questions on this topic. One thing that really sparked an interest during your workshop was the number of genes you could be tested for. And I mean, I'll just stop right there. Yeah, I think I personally was tested for probably the top eight, specifically for breast cancer for breast cancer panel. And I think he mentioned somewhere upwards of like, 70.
20:16
Yeah, so the largest panel that we're typically offering can be anywhere between 81 to 84 genes, depending on what lab we're going with. And yeah, I mean, I think that's a really good thing that you bring up is, you know, there's definitely, you know, over time, our approach to testing has changed a lot. So, you know, back in the day, probably like 10 years ago, if someone had a breast cancer diagnosis, and was recommended to get genetic testing at the time, they were likely only being tested for just the BRCA one and BRCA two genes. And, you know, over the years, one as technology has evolved, and as we've learned about more genes, and I think, as you know, genetics is becoming more commonplace within the healthcare model as it is. I think now more and more people start to be comfortable with offering kind of the larger panel so here I can speak specifically to like what we do typically, oftentimes here we are kind of more of, we cast a wider net. It's kind of how I like to explain it. So, you know, even if someone is coming in mainly concerned about their breast cancer risk in the family oftentimes will still offer a panel of what we might call like a common hereditary cancer type panel. So what that typically is comprehensive for genes associated with not just breast cancer risk, but also gynecologic cancer risk, which often there those genes go hand in hand oftentimes, but then also gastrointestinal cancers, that includes things like colon cancer. And the reason we're kind of casting that wide net for these these kind of cancers is because oftentimes, even if it's unexpected, that we identify someone has, let's say, a moderate risk for increased risk for colon cancer, for example, our thought is we'd rather know that information and not know it because it could actually change someone's management. So we might say, you know what, instead of waiting 50 like the general population to do your colonoscopies, you might want to start at 40 and maybe go every five years instead of doing a 10 year plan, for example. So if there's something solid that we can tell people, and if it could potentially be helpful information for their family members, I think that's one of the reasons we've moved to, you know, doing panel testing. Because, you know, even though it's rare, there have absolutely been times where we have seen a family that does not look like your textbook example of what we might think of for the mutation that we actually end up identifying. And I think that actually is a good segue into talking about the fact that there's lots of limitations with family history oftentimes. So that's something that you know, we as genetic counselors also trained to look at you know, some of those gaps there in the family history. So sometimes, you know, one limitation in family history provided is sometimes people just have a really small family. So if you have a small family there's not a lot of people in the family that you know, you're going to see cancer diagnosis because there's not a lot of people are people died at young ages. And so you know, who knows if they lived a little bit longer, what kind of cancer diagnoses you may have seen. But then also, you know, sometimes there's families where there's lots of males, not a lot of females. So you might not be seeing a lot of breast and ovarian cancer in the family because guess what, there weren't a lot of females in the family. So things like that. Or, you know, another big thing is that cancer historically was something and even to this day, there are some communities where people don't talk about cancer diagnosis, they don't share their diagnosis with family members. So people might not know of cancer diagnosis in the family. And I think because family history is in nature, you know, in perfect in that way, our thought is we should at least cast that wide back for the genes that we know that potentially there could be something that can be done about it. Now, there's always a caveat or some genes in there we might not be able to change some screening with some of the risks associated with it. But generally speaking, for the most part, there might be something we could do differently and so our thought is gradual look at that and not look at it, but at the same time we meet the patient, you know, with their at their level, what they're comfortable with. There's definitely been highs where I’ve scaled back and done smaller test because sometimes, especially, you know, if you've had a new diagnosis, you don't want to think about anything else right now, you know, right now you just want to know what you need to know, for making your surgical decision or whatever it might be. And that's absolutely fine. And that's, you know, I think one of the big benefits of meeting with someone like a genetic counselor, is they’re going to make help you make your decision in terms of what's the right decision for you, and it's not a one size fits all. So.
24:26
Absolutely. And I think you bring up such great points yet again, about the different cultures and how we can effectively provide education. And that's part of the prevention piece, too. I know for me, you know, we're going around, we have a speaker's bureau, we're doing events and we're sharing information to empower people to ask the right questions. And one of the things I tell people is like, go home and ask your mom or your dad, like, get your family history, because I don't know like, it's not talked about, we don't know about it, and then you know, I just have like a running word document now of like, oh, These are all the things I have to offer. You know, it's that simple. You can proactively do and then just keep on file.
25:07
Exactly. And, you know, I, that reminds me of, you know, one of the things I hear so commonly in clinic is, because oftentimes before people were before we see a lot of our patients, we send them a family history questionnaire. So that gives them the time before they meet with us to actually be able to fill out, you know, the details of their family. And it allows them to give time to ask, you know, those exact questions like you were mentioning to their family members, and so many people come into the clinic, and they say, I didn't know about some of these things until I asked. And so that's, you know, just goes back to I think it is absolutely important to, you know, kind of be aware of your family history. And at the same time, you know, there's lots of cancer is sporadic, and it's not something that's hereditary. So oftentimes, I feel like people come in who might say, oh, my gosh, my, you know, there's so much cancer on the side of the family and or, you know, there's, you know, I was worried about this, but I can sometimes be even reassuring to them, as you know what this type of cancer is, most of the times sporadic, it's not something we'd be worried about. And so sometimes even just that's alright to hear for people. Exactly.
26:06
So speaking of like relationships that patients develop with you as a genetic counselor, so they come in and you help navigate, you know, the panel and what's going to be tested there specifically for breast cancer, you cast a wider net, how often should patients then follow up with you for additional testing?
26:22
That's a great question. So in all the letters that we usually send out after, you know, when we're sending out the the patient's results, and kind of after we've talked to them and stuff, in the letter, we always typically include a little little line there that says, you know, testing technology and stuff can always evolve. And so, you know, it's possible that there will be more updated forms of testing that would be recommended down the road. So similar to how, you know, 10 years ago when people were being just tested for BRCA 1 in 2. And now we know that there are other genes associated with breast cancer risk. So there are people who are coming in now for updated testing. That wouldn't have been, you know, there. Their mutation and not have been captured on the previous test, for example. So because they weren't testing for that specific gene. So similarly, or our technologies just devolve, sometimes our technologies can't pick up certain types of mutations at one time that they might in the future. So, absolutely, we typically say maybe every one to two years or periodically, kind of, you know, sometimes some j councilmen say, you know, what, put me in your Outlook calendar, you know, every maybe two years or so. And, you know, just reach out to me, and I'll let you know, at that point, if there's any kind of updated testing to do.
27:32
Yes. Okay. And what are some of the technologies that you're referencing?
27:34
So that's a good question. So historically, you know, so one of the things actually, that's probably more recent is, and this hasn't become standard yet. But let's say for example, that right now, historically, a lot of the DNA testing that was happening was on DNA. So what what we'd be looking at is the kind of if we kind of add just so we can actually, you know, explain what all these terms are. So If you think about kind of our bodies, you know, there's lots and lots of cells that build up our bodies. And each of these cells you can kind of think about, there's lots of genetic information that's kind of like a code book of, you know, telling the, you know, gives a set of instructions to tell the cell how to grow, how to function, how to develop, you can think of the the genetic information in your cells as being kind of like an instruction manual. So in each of your instruction manual, there's a bunch of chapters. And then each of those chapters is a bunch of words that make up those chapters. Those words you can think of as being genes, and just how words are made up of letters. That's how genes are made up of, you know, DNA letters there, they actually really do look like letters, you know, and we spell them out typically in the code. But so so what we're typically looking at what genetic testing is seeing, are any of those words misspelled or any of those genes misspelled. We all have the cancer genes that we're talking about, like BRCA 1 and BRCA 2, for example. We all have these cancer genes, and the typical function of the genes when they're working normally when they're spelled normally is to actually protect the cell from developing into a cancerous cell. But what we're looking at with the genetic testing is seeing was someone born with one of those genes or one copy of their gene maybe being misspelled that increased their risk, then over the general population to develop whatever type of cancer is associated with it. So, you know, a lot of the testing, even till today was kind of the clinical standard is to do DNA testing. So that's looking just at, you know, the little letters that are spelled out there. You can think of these instructions kind of like recipes that build an actual food product or what you can consider like a protein. And the protein physically goes and does the jobs within the cell. But there's a middle step there for some males out there before the DNA actually forms the protein. It's called something called RNA. So now, some, you know, one lab in particular has actually started doing RNA analysis in addition to the DNA testing. And so what they're doing is with the RNA analysis, You know, it's basically an added level of, of analysis. And the technology, of course, is a little different to, and it has the potential to identify changes that the DNA testing itself alone might not be able to identify. And the reason kind of, I don't know I'm in technical details going to go into, but one of the reasons being is because when we look at our DNA, there's large stretches of parts within those individual genes, or those words that, you know, don't actually code for the protein that we didn't really know too much about. So it's hard to really interpret what the meaning of some of those parts are. But now, but what we can see sometimes is, you know, even if so the DNA testing typically won't look at that part. There's like, because it's lots of stretch, it's unnecessary to have the technology to go over a lot of that too. So it's typically just looking at the pieces that we know what they make sense of and what kind of code for the proteins. But what we're sometimes seeing is, you know, DNA testing might not show us any spelling errors, but then when we're testing the RNA It looks a little wonky. And so we're like, hmm, why does this look wonky. And then lo and behold, there's that some part in that middle part of the DNA that we didn't look at that actually has an error in there that allows for the RNA not to be built correctly, for example. So that's, you know, as it's a little bit of a complex kind of way to kind of explain it, but you know, that that's what RNA analysis potentially could evolve into, so that it's still very, very new. The lab that has started it only just started it this year. And so we're still in the process, the lab is in the process of gathering data on how often they predict is going to actually identify a change the DNA testing can't. But it's possible that something like this could become then the standard in the future. And at that point, we might have people coming back to get testing with the RNA analysis as well, because we already do know at least have one case I'm aware of that. There was a there was a you know, something that was identified based on the RNAs and the BRCA ! gene that the DNA testing did not pick up. So so it's it's a possibility theoretically, and we've seen it happen. So it's who knows how it's gonna happen
32:06
If I'm understanding correctly, it almost sounds like in the RNA process.Yeah, it's providing that like that key of like, Oh, I caught something like a double check.
32:10
Exactly, exactly, exactly. So it's it's definitely helped a lot. And the other thing it's also helped with is, you know, with anybody who's had genetic testing might know, there's actually three possible results you can get with genetic testing.
32:27
I was gonna ask, right, actually, as a recipient of that. That was a great question. about before, also, with all the different screenings. And maybe this will be your answer, as well as I'm very curious, especially this day and age, with the role of artificial intelligence and how that is infiltrating in terms of just screenings in general. Yeah, that's just like, I'll talk about it because it's super exciting. You’re going into all the great science detail, like I think what we're really great about doing breast cancer conversations is having this conversation doing the analogy is talking about the food, the letters, the DNA, right, that people can relate to. So yeah, we can do that with the AI conversation.-- Exactly.--So I was overwhelmed with the breast cancer diagnosis. And we went in for the genetic testing shows, you know, a smaller panel because I wanted to focus just on the potential genes, high risk genes, right. And also for the people that are listening to you. It's not just necessarily BRCA 1 and bracket 2. In fact, there are and I probably can't name them all the way, you know, but ATM.--Yep. There you go.--There's a whole list. Yeah. And I'll definitely link to them in like the descriptions if people want more information. But I got this letter back. And it said that I had a variance of unknown significance, right. And I'm like, I just got diagnosed with breast cancer and my results are already coming back. Great. I just want information.
33:52
Solid. Yep. Yeah. And so that's something we always talk about in our genetic counseling sessions, as well as there's three types of results you can get back so one, the one and two are kind of easier to understand and write a positive result meaning yes, we identified a change in one of these genes we know is harming the genes function. And therefore, you know, what, what would we typically say. Yeah, we'll come back in and we'll talk more in detail about what that gene changes. The second type of result, just the opposite negative, we didn't identify any harmful changes, it looks like the genes are working just the way we would expect them to. The third type of result is exactly that, that variant of unknown or uncertain significance, VUS for short. And really what that basically is, is a fancy way to say maybe, or inconclusive. And what that really is saying is that the lab identified a change in one of these genes. So a spelling change and one of the in one of these genes, that they just don't have enough evidence right now in this at the, at this time to classify definitively as it being a harmful change, or a completely normal, you know, benign change, not changing anything differently, because we know that there's lots of normal changes in our DNA. So as you can imagine, we're all human. We all have human DNA, but there's lots of normal variants in ourDNA that just make us different from one another, but it doesn't actually have any harmful, you know, effects. And so we we actually the way we usually will talk to our patients about those variants of unknown significance, you know, when we're talking about our kind of pretest counseling, where we I always say we do not worry about these these types of results for the most part, because we know that 90% of them when the lab learns more about them and are reclassified are reclassified to a negative because there's lots of normal variation or DNA, a lot of them end up being chalked out to that. Now, there is very few cases where you know that 10% probably that does get actually upgraded or they do learn more about it and it can actually be a truly harmful mutation. But because the vast majority of them are not we typically kind of treat them as innocent until proven guilty and down the road. If the lab ever learns more about them, they let us know when we let you you know the patient know but I will also add that you know, all the reports typically have a description of what evidence they do have presently for for that specific change, or that variant of unknown significance. And I always go over that description before I call it results to my patients. So what I'll typically do is kind of look over that, and really, that sometimes can give me a better sense of, you know, what, I'm not at all really concerned about that. And very rarely, I'll be like, that does look a little bit fishy to me. So sometimes we'll run it by the larger group or, you know, and very rarely, we've actually treated some of those uncertain, significant results as a positive result. So, you know, we actually, you know, there's, there's, there's been, you know, one incident, I know, where there has been a variant of unknown significance treated for the longest time as a positive by someone in our group. And, you know, lo and behold, many, many years later, it did get upgraded to a likely pathogenic mutation. So I think that just hones in on the point of sometimes it can be helpful for as a genetic provider to really look you know, creepily at what that change might be.
37:01
Absolutely. Like your standard and then you have like your guts.
37:05
Exactly, exactly. And what information we know. And you know what, maybe it's probably safer to given the family history given this, that we might treat this as a positive.
37:13
Which leads me to my next question. So if you have, I mean, whether or not you have this really unknown significance, sometimes people are asking them to go back to their family members and ask for additional testing to help paint this larger picture. Yeah. And that can also be very contentious, right? We're talking about some of these like ethical issues or like dialogues that aren't always easy conversations to have.--Absolutely.--Can you speak a little bit about that.
37:37
Absolutely. So family communication is a big thing, right, that can come up and you know, sometimes it's something where I know at least for our patients, sometimes I'll so kind of speaking to you know that even what why why even have someone else get tested in the family. Oftentimes, that's because, you know, the person who got the testing might not have been the best person in the family to get the testing or there might be someone else. Who could give us a clearer picture. So for example, if we're testing someone who, you know, there's let's say there's a family that has a lot of breast cancer in the family, and you know, people in the family who've had the breast cancer diagnosed themselves have not been tested, but someone who hasn't had breast cancer is curious about their risk, to know whether or not they have an increased risk, and they go ahead with the genetic testing. Now, if that person who does not have breast cancer tests negative, meaning they didn't identify any changes, there's a little bit of a limitation there where we don't know that they tested negative because the breast cancer in the family is not due to a hereditary cause, or that they just didn't inherit the gene change that could be explaining some of that family history. So that's where sometimes there's other people in the family we recommend, get the testing, you know, to help clarify the, the risk in the family and and you know, sometimes if the person who has the cancer of concern test negative we might not even recommend anyone else in the family getting testing. So it depends kind of family to family, of course, but oftentimes, like you mentioned, the family communication thing is a big thing that can come up. And so sometimes what I'll I'll offer to do for patients is write a family letter, kind of a generic letter that I can type up that so they don't have to worry about having to have all the details or anything like that there. But I can write a generic kind of letter and then send it to our patient and then they can kind of forward it and edit it as they please to send customize it, send it to their relatives, so they don't have to worry about having that conversation or anything like that.
39:30
Yeah, it's very, it's very hard. We navigated that with my family personally, and just really trying to understand that genetics is bigger than the individual and trying to say, Yes, we want you to get tested. And I know you don't want other results, but your results can impact my treatment plan, my surgery choices, right, and that sort and that was hard. It was anger there was like. You know, it resolves itself. In the sense that For me, personally, I came to peace with the situation. And I was able to do enough research to learn about the surgery options to then just be comfortable regardless of what the result was going to be that I never actually tested for.. I knew what my surgery options were going to be me and my oncological team felt very confident in that. So you're right, I think you have this team of people that you just talk through and talk through and meditate on it a little bit.
40:22
Absolutely and you know, I think that's, yeah, like you said, I think everybody comes in with their, their different story, whether it's their personal kind of, you know, journey with their own diagnosis, or whether it's, you know, their family history, and I think it's, you know, not everyone feels comfortable going forward with the testing and they have their own reasons to sometimes, you know, people don't want to feel you just want to sometimes people cope with this information by distancing themselves from the information altogether. So people cope differently and we see that sometimes often is that, you know, some obviously we haven't ascertainment bias for who's coming through our doors are people who generally are people who want to do the genetic test? But we do say that, you know, you there's no harm in meeting with the genetic counselor and not going with it, you know, we, we their information. Exactly, exactly. Sometimes I'll tell people like, you know, even if you're not comfortable, you know, going forward at the testing, we can walk you walk through with you with this kind of with this process. And, you know, you can make your informed decision at the end of the session, but, you know, sometimes we'll some, one of the other ways will sometimes go over it is I think there's so many misconceptions out there also about, you know, genetics and having a genetic mutation. So, one thing, for example, like to also hammer home is having a mutation in a gene does not absolutely mean that you're going to develop cancer. So--taking that lifetime risk--Exactly, exactly. There's so taking the example of BRCA one into having a BRCA 1 or 2 mutation. You know, the lifetime risk is estimated to be anywhere between 50 to 85% lifetime risk of breast cancer compared to the general population’s risk of 12%. So it's a significant risk, but that also means that there's a 15 to 50% chance that you're going to have a BRCA 1 and 2 mutation and not develop breast cancer in their lifetime. So, you know, it's it, there's very few genes that have a near hundred percent lifetime risk. And so you know, having a gene mutation does not mean you're going to get cancer. And sometimes people have either had a personal journey where they've seen someone in their family undergo cancer diagnosis, and that's been really hard for them. So for them, they don't want to come to terms or even come to face the thought of potentially finding out about an information that could, you know, tell them that maybe they have an increased risk of cancer, because they've had, you know, a really difficult time seeing a loved one go through something. And so, there's lots of things that can factor into why people make that decision. But, you know, one, one way to sometimes go about it is let's say there is someone in the family who's really motivated to, you know, want to have that conversation about genetic testing, sometimes to say, you know what, what, you know, if it's an option, maybe you can bring in your relative with you for your session as your support person and then they can be exposed to the to the conversation and maybe some, some miss, you know, if they have some misinformation that can be kind of clarified, you know, through the through the session, they have the opportunity to ask questions as well. And sometimes maybe that's something that can, you know, help them feel more comfortable with making whatever the right decision is for them.
43:17
So, this topic of you know, family history not having like an individual response to it, it's like kind of larger than ourselves and tying this back into the technology with artificial intelligence and the more information that we're receiving I'm so when I got genetically tested, it literally was just a blood test. So for people who, you know, we're talk about DNA and RNA and all these two technologies. Yeah, but literally, it was here, go get your blood drop down. You'll get results in two weeks. It was it was easy. It was like just giving blood right anything else right. And but then, so I just envision not having ever walked into like any of these labs, just a huge database with all the letters and sequencing and it keeps growing. And growing and growing, the more information that gets put into that database. Right, right.
44:06
Right. Yeah. And so that's a good, good thing. So one of the things that comes to mind when the word that comes to mind when we're thinking about genetic testing, like from that standpoint is big data, right? So lots of big data is being generated when you're sequencing someone's, you know, genes and stuff. And now, you know, disclaimer, I don't work in that kind of side of things to have too often, but, you know, certainly the people that really talented people who are working in the labs and stuff where, you know, there's definitely pipelines in process of how they kind of go from the raw data of like, actually having this these really huge files coming out of the sequencing, you know, machines and stuff like that. And then how do they translate that into something that, you know, where they can narrow down all these regular variants that are also being picked up and, you know, just zooming into, okay, what are the actual potential variants here that are actually harmful? So there's definitely a whole process that goes in there.
45:03
And I think that's where, what's what's beautiful about like just the evolution of genetics, I think a lot of the evolution kind of goes hand in hand with the evolution of technology. And so those kind of two things have been worked nicely for one another as well.
45:17
And I think a lot of positive outcomes coming from exactly one thing I want to be incredibly cognizant about to you is in my own, you know, experience talking and having conversations with people, the likelihood of who is the person that's most likely going to be getting the genetic testing in terms of like, demographics and ethnicity and as we're feeding this database with that person's data, how does that impact the the population of people who are getting breast cancer and are have higher risk just based on being Hispanic or African American or Asian.
45:49
Absolutely. To bring a really great point is with genetics, historically, a lot of the you know when we think about Kind of, you know, when when we're identifying whether or not someone has a harmful mutation or not, when we're comparing it to a reference, the reference is oftentimes mainly made up of Caucasian individuals. And so we talked about earlier that there's lots of normal variation in our DNA. And that kind of goes across, you know, different ethnicities. And so we know that because the reference database is made largely made up of a Caucasian individual, you know, individuals, there can be a little bit of a higher chance of getting back those variants of unknown significance for individuals who are not of Caucasian descent so sometimes I'll kind of you know mentioned that intersections do is that we don't worry about them, you know, there's you're testing all these vendors is a pretty decent chance we're gonna get back some, we used to get about 30 to 40% of the times we get back one of those inconclusive results. But, you know, there's definitely you know, I think a lot that we're, there's definitely I know, initiatives out there that are trying to you know, diversify the the reference databases, we have I know, just recently I was at the, at a conference for the American Society of Human Genetics. And I know there, I heard people talk about the all of us research studies. So you've probably heard of that you can get out of the NIH if I, if I'm if I'm not wrong, and I know that they have tried to really try to recruit actively individuals of various underrepresented populations to try to, you know, and part of they do have genomics included in their kind of study as well. I know personally, I was a participant of the all of us research studies. So it was like six or seven days ago, I can't remember it was quite a number of tubes of blood that we that we donated, but you know, I, it's, I think this is like one step in the right direction. And I think there's definitely think more and more, we're being cognisant of the fact that, you know, we want to make sure as we're evolving with our technology and making, you know, getting making our genetic testing even better, we want to make sure that it's better for everyone. And not just for select individuals. So that's definitely something that we, I think are being we're trying to be more and more cognisant of.
48:07
And it’s so reassuring to hear. I definitely want to get the word out there to also to the podcast about all of us. That's right. Yes. Yes. Yes. And how people can donate their blood to be contributing to this? Absolutely. And that, in turn is also going to lead to like the the up and coming technologies around precision medicine, being able to understand your your specific genetics and then developing a chemotherapy or immunotherapy drug to target that specifically. And so, absolutely, it traveling fast like is to have a right--exactly, exactly. Right. Right.--If you're taking place right now, and people have a very active way of making a difference, which--Absolutely, absolutely.--So I have to ask to be curious. So like if we're getting to a point where we're able to identify that you carry a particular gene are there ever going to be an opportunity I'm not aware of it, in terms of like, I want to have a baby? And I'm carrying the BRCA 1 gene, is there a way that I will be able to remove or even do a test to see before I even give birth? Yeah.
49:18
So. Yeah. Reproductive implications. So with the BRCA, you know, we know of something called pre implantation genetic diagnosis is one of the technologies that has come about with the advent of genetic testing as well. And what that typically involves is, you know, when it's going through it, so let's say like you said, like, we know someone who has like a BRCA 1 or BRCA 2 mutation, for example. And if they're, you know, this person, this person is, you know, thinking of having children, they can go through the IVF process and do something called PGD. For short, pre implantation genetic diagnosis is the whole mouthful, where they can actually test the embryos for whether or not they carry the mutation. And then only implant the embryos that do not carry the mutation. So that's one way that you know, that's that's an option. I know we have a group at the Brigham, who does, who does reproductive genetics. And so you meet with a genetic counselor. Similarly, I mean, here I do just cancer, genetic counseling, obviously. But there's other genetic counselors who work in things like reproductive genetics, where you then meet with someone to talk about how that's whole done. And you know, if people do carrier testing, you may know that's kind of a different ballgame is knowing what if there's any risk of you know, potentially passing on a genetic, you know, condition to your child. But then obviously, there's also then other options too, you know, in terms of some people consider, let's say, you know, having an egg donor or something like that. Now, as far as BRCA 1 and 2 mutations, we're typically not testing children. So that's where some of the ethics come in and stuff because it's an adult onset condition, meaning the risks don't really take take place until someone's an adult, we typically don't recommend testing children and kind of leave it up to their being their autonomous choice to get testing when they're an adult. The only time you know it might be appropriate to test a child for a BRCA 1 or 2 mutation that I can think of off the top of my head, particularly a BRCA mutation is, you know, there's for someone who has a BRCA 2 mutation carrier, and if their reproductive partner is also a BRCA 2 mutation carrier, there's a 25% chance that their child will inherit both copies of the gene that carry the mutation on it. And then that child can have something called Fanconi anemia. So it's a little bit of a different symptom that can have childhood onset implications. And so that's where you might consider testing a child as well. So but not to go too off on tangents.
51:53
That’s exactly where the conversation is like these are all conversations that people are having. This is exactly as you mentioned. Like the contemporary conversations that are happening in real life. And the more that we're hearing this, even though there's taking notes over here, like PDG, and RNA and don't worry guys I will blog about it. You know, I think this is empowering us that ask the right questions and giving us a real voice to say, Hey, I heard of this thing. And I'm, you know, in my 30s, I still considering having children about to consider going through chemotherapy to kill the cancer, but like, what are my options? I mean, that just opens the floodgates for opportunities and dialogue.
52:30
Absolutely. You're absolutely right. And, and, you know, I think with genetic testing, there's so many so many applications of it to like you mentioned earlier, it's not just, you know, what we call germline genetic testing, meaning where you like you meet with genetic counselor. So you were born with any changes in any of these genes. So is there a change in all the cells of your body basically, but then there's the tumor genetic testing, right. So like you mentioned earlier, where you're testing the actual cancerous cells to be able to target any treatment there. And then there is, you know, obviously genetic testing and other apps aspects who like the reproductive genetics implications as well. And just so so many applications, and I think it's just ever growing because the more and more we learn about how genetics can be implied in healthcare, I think the more we're learning about that.
53:13
We're just now I feel like this is like Episode One of many. Is we I mean, laying the foundation.
53:16
Right? I mean, it's what it was. It's just we're in the first like, what, two decades of having sequence a whole genome? And I mean, I know what's what's kind of crazy to me sometimes. And that's why I just feel so honored to be able to work at a place like Dana Farber, but, you know, I work with colleagues who have been offering genetic testing for beers he went into since the 90s. And I'm like, that is just pretty amazing. Like we were offering testing for this before the human genome was sequenced. Like what? So yeah, definitely really cool.
53:48
Definitely changing a lot of lives. Yeah.
53:50
Yeah.
53:53
Excellent. And I guess in terms of next questions, I think you've answered a lot of our initial questions. About how to interact with a genetic counselor, when is it appropriate? When is it appropriate to follow up with them? And for all the people who are left in suspense about my inconclusive diagnosis.--Yes.--I remember it is so commonplace now to hear, you know, braca BRCA 1 and 2, you know, rolls off the tongue. And when the time it was the first time I heard of it, yeah, never. I don't think I've ever looked back at that letter. I was just like, okay, there's some variance going on. There was the whole family ethics and, you know, decision making and argumentation and right, you know, there were so many other things happening that, you know, fast forward two years, I'm like, oh, there was a, you know, inconclusive result. Let me go back and pull out that paperwork. And it was on the BRCA 2 gene and now everything that I know about BRCA 2, I'm like, oh, like, how come I wasn't more like Sir, I just yeah, be concerned.
54:54
Right, right. You had so much on your plate that.
54:57
even in that place, it'd be treated as a negative or usually depending on like, the bigger picture.--Yep.--Background and family history. But I did get a letter recently okay me that my particular sequence came back I think it was like 90th percentile being classified as negative. Okay, so that was great news. And I'm just sharing this also in terms of sharing the information about the the follow up care, right. I didn't call my genetics counselor she called me right little, like a heartbeat panic moment of like a walk because you know, the caller ID I'm like, that's the hospital. Why are they calling. I don’t have an appointment, I didn’t miss an appointment.--Right. Right.--But they were delivering good news and, and yeah, I think it's just like staying in the database and staying up to date as new technologies are coming out.
55:47
Absolutely. As a typically what a lot of the labs are doing is that they have kind of, like you said, like kind of in their database almost have like this list of these variants of unknown significance or these inconclusive type results. That They know they have and that they are they they're basically every six months or so doing a review on potentially of seeing, is there any anything else out in the literature? Is there any internal data they have to support to reclassify one way or the other some of these variants? And then, as they do, then they typically, at least I know, here, the lab will let us know, so they'll issue us an amended report, and then we then contact the patients to let them know. And typically we'll just send them a letter, which, again, for the most part there, they've been reclassified to a benign or likely benign result. And so we send those like nice little letters that you know, if even if this was something that was on your mind now, it definitely should not be because it was nothing.
56:40
Love it.--Mm hmm.--Is there anything else that we did not ask or cover that you would like to share?
56:46
Yeah,so that's a good question. I think one thing that, you know, is probably also worthwhile to mention is, you know, when, when we think about, kind of when I kind of going, going back back to what I had mentioned earlier with the with the pie chart and you have, you know, the the 5-10 percent people who do are identified to have a mutation and then the vast majority of being sporadic meaning we don't actually identify a mutation for them. There's also a little bit of a category there called familial, which means that we might see multiple people in a family that have, you know, maybe breast cancer or some type of cancer in the family. But we haven't identified a genetic mutation for them. So maybe they weren't negative on genetic testing. It sometimes the reason we also have that multidisciplinary care model, it's not just genetic counselors you're seeing but sometimes you'll also be seen then with the physician as well, who were who has you know, background in genetics is because we sometimes might still recommend that you get maybe some kind of high risk screening based on your family history as well. So the way I like to explain it is your genetic testing results are not an end all be all. It's not just we're not looking at that by itself. In you know, isolation. We typically are looking at your genetic testing results, in addition to your family history and your personal history to help guide your care, because at the end of the day, there's as you as we've talked about, I think that the constant evolution of genetics, there are limitations with genetic testing. So there can be genes we haven't discovered yet that could be associated with, say, breast cancer risk, for example, or our technology is evolving. So it may be our technology might pick up mutations in the future that they're not picking up right now. And so for these reasons, we don't ignore family history, we might still take that into account to change someone's care. So that's why I think it can be beneficial to just you know, whether it's your provider, your, you know, if you've met with a genetic counselor, or anyone, oftentimes hopefully will then be referred in to the appropriate channel if you still need any kind of different screening that you're you might still get that even if you were negative.
58:49
Yes, yes. And to conclude on that note, yeah, so I got this great call. It was negative Yes, lately, but nine I got in the mail. So I'm like, that's great news, right and then immediately was like, Why did I get cancer? So you're back to the sporadic? You don't have a reason anymore. But yeah, like I said, it's all good humor right now because it's genetics and it's evolving. Absolutely. I think genetics testing was one of the first experiences I had when I came to realize that medicine is not a perfect science. And it's really interdisciplinary and is very useful per-person.
59:21
Absolutely. You're absolutely right. And, you know, that's what I say. I think, you know, one of the things I remember that stood out to me when I was still in training in graduate school, was, you know, when we think because we're also trained as genetic counselors to you know, from a psychosocial counseling perspective. So one of the things I remember that stood out to me at the time was, you know, we, I think, going before go, you know, go before my training, I would have thought that, you know, just a positive result is what's typically something that someone's upset by, but a negative result can be upsetting to some people too, because sometimes people need an explanation for why what happened to them happened to them and sometimes not having that explanation can almost be more frustrating. And so you know, I think as human beings and this is sometimes I say often to my patients as well as, as human beings, sometimes we, we have the tendency to want to put a finger on something and have a crystal ball and say, This is why this happened or you know that this is and sometimes people you know, I I like to remind people don't blame yourself for having done something, if I just did this differently if I just did differently. There's also a big percentage of cancer that happens because just nature isn't perfect. And ourselves Exactly. Are you think about, you know, when we talked about all that DNA in our, in each of our cells, there's billions and billions of letters and each of our cells and every time a cell is replicating, it has to copy all of those letters each time. So think about a Xerox machine. And if that's copying again, and again, it's bound to make an error at some point. And so our cells are the same way. They can sometimes just make an error. And even though there are mechanisms in place to, you know, to correct those errors, sometimes those mechanisms might not work properly. So that's where just need to isn't perfect and sometimes these things happen but, you know, we want to make sure that you are being taken care of well and that you are, you know, kind of we're here kind of to help guide you if you're concerned about Do I have this risk I might have been born with? Do I have a lot of cancer in my family? Are there people at a young age being diagnosed with a certain type of cancer diagnosis or anything like that? If you meet with a genetic counselor or someone in genetics our hope is that we are able to kind of help help you understand what your risk is, if if there is a risk based on family history and that you're connected with the right channels to you know if there's anything differently than we do from a screening standpoint.
1:01:41
On the podcast, people don't always see all the additional guests that we have in the room but I do want to bring things up. They have been very quiet high caste which is unusual for William I know his voice normally picks out.
1:01:55
I submitted my questions through Maddie. Why don't you introduce Maddie.
1:02:01
Yeah. We're also here we're so excited because we have another SBC first where we have one of our volunteers and interns from UMass Boston, who is a graduate student here with us and part of our surviving breast cancer team. So Maddie, it's all yours. Again, I don't think that was like, thorough, like what what are you studying? How did you get involved?
1:02:23
So my name is Maddie, and I'm currently pursuing MSBA in UMass Boston. And why did I get involved? Well, well, I have personal experience, not personally with breast cancer, but with a one of my very personal family members going through cancer itself. And that's how I got involved in like the Cancer Foundation and I met William at one of our fairs. And I was like, Oh, my God, this is such a great organization. And that's how it came about here. So I do have one question for you. Was when you come across, like many patients, right, what are some questions that you wish patients asked you.
1:03:03
Oh, that's a good question. That is a great question, huh? wow, really got me in a rut here.
1:03:20
A lot of times you walk in and we don't have what genetics really is right.
1:03:24
So that's the thing that I know a lot of thankfully, I feel like a lot of patients are very upfront about some people just say, honestly, I don't even know why I'm here. And I will I love that, you know, oftentimes, actually, when I'm going into a session before I explain what, you know, what we typically what this looks like, like I go through your family history. We'll talk about genetic testing. If you want to do it. You can do it today, then I say, but before we jump into all of that, what questions do you have that are pressing and oftentimes that opens the door to whatever is the most pressing question for them. So I think if I had to answer your question, I would, I would, I would like my patients to ask me the question that the biggest question that they have on their mind so that we can answer that first at the beginning of the session, and then you know, that's something that is not lingering on their mind or that they don't forget, because at the end, they were here to kind of answer your questions and really guide you through the session. And so definitely, you know, ask away all the questions, all the questions that you have, personally.
1:04:21
Okay, another one is like, you know, you touched on different cultures and, you know, different groups that, you know, you know, our database is right, not really inclusive of all of those. And, for me, personally, you know, like, approaching that conversation with my mother and my grandmother is extremely hard, because you're going to be like, why we don't have a history of this, but you know, to be on the safer side, like, it's always good to know, right? How would you suggest like, you know, cultural differences, what kind of cultural differences do you see in your patients? And how would you suggest that your patients tackle them when they have this conversation with their family members?
1:04:57
Yeah, that's a great question. So, kind of speaking personally, actually, so my parents are of Pakistani background. So and I feel like, you know, I feel like I feel like I can kind of relate sometimes to some of, you know, some immigrant communities where I feel like I've seen this come up as well, where a lot of times when we think about care, we're thinking about care from a, like, okay, I broke a bone, I need to go fix it. But not preventative care isn't necessarily a conversation that happens too often. And so I think one of, you know, I know, at least from our standpoint, as, as healthcare providers in the field, one of the things that I'm personally passionate about is to do community outreach to do you know, have these kind of educational conversations, these educational discussions in communities that so often, you know, might not be accessing, or may not be utilizing some of these services and, you know, really kind of, you know, helping help educate them around these, why we do this and what the purpose of this is to kind of and making it more accessible. Because I think that's another barrier to a lot of people of getting into things. It's just not something that's accessible to them. You know, we're sitting right now at Dana Farber, where Yes, you've got like 19 genetic counselors, right here to talk to you about genetic testing. But there's lots of places that don't have a genetic specialist, let alone a genetic counselor. And so I think that, you know, making sure that, for as a healthcare provider, the thing I like to focus on is trying to see what steps can we take to make our services more accessible to everyone? As far as what advice I would give to someone in the family, you know, I think it kind of goes into ties into what we kind of talked about a little bit earlier too, which is that, you know, sometimes if there is a little bit of hesitation for people to want to even think about this or talk about this, sometimes it can be stemming from a you know, a place of where, you know, they don't want to come to terms sometimes with just you know, if they have seen someone in the family go through something difficult. They don't want to think about even the possibility of this being something that could be hereditary or risk that other. Right, exactly, exactly, exactly, absolutely. So, I think that that's something that, you know, from, you know, where it could be potentially helpful if there is someone in the family who is interested in this, you know, see if he can have that person come along with you to one of these things. And I think, you know, we just need from our end, we need more and more outreach events as well to kind of talk to different communities who might not be exposed to a lot of this information, and really talking in a group setting about why someone might consider this, what are the benefits of doing this? And so I know, here, we just just started this community outreach kind of little quality improvement group in our in our department. So we get in try to do some of this outreach in different communities that so often don't hear or talk about genetic testing. Yeah.
1:07:54
Great. Your background like where are you from originally?
1:07:58
Well, I'm Indian. Uh huh. And I grew up in Singapore. So I did my undergrad with business administration and biochem. So that was my little my history. But I've always been passionate about, well, like I said, I see someone over cancer. And I think being educated and having information of hand is really good, because knowledge is power. And that kind of like, you know, helps you kind of make your decisions every step of the way. And wait, I do actually have another question. Yeah, go for it. Yeah. Is there any such thing as too much information?
1:08:35
That's a great question. You really have all these, like, really great questions.
1:08:41
And I was thinking. Well, yeah, the answer to that. And with your background with MSBA, we're talking about big data and all this sequencing, right, this is perfect. Right.
1:08:52
Right. And so you know, I think too, too much information. So you know, one thing that you said is something I said, we say we See and hear a lot in our sessions is the knowledge is power piece of thing, right. So, like we talked about a lot of cancer is sporadic, we don't know some risk factors that people might have. Sometimes when someone is identified to carry, let's say a BRCA 1 or 2 mutation, we might actually have more of a clearer idea of what their risk is. And so we can help guide their care appropriately. So definitely, you know, that's the thing is like, you know, knowledge can be very powerful. Now, is there too much information? I think that's where, you know, when we talked about the different sized panels that we can do with genetic testing, some panels might be large enough to where there's lots of new genes on there are genes on there that even if we did identify changes, we might not change any management because there's no real management guidelines on them, or something like that. And that's where, you know, as a genetic counselor, I work with the patient to see you know, based on what their kind of, you know, how they want to take this information, are they the kind of person who are like, you know, what, that kind of information doesn't bother me at all. I'll just put it I'll be it'll be easy for me to put it on the back burner not worry about it, or are they someone who will, it will be too much information for them. And they don't want to have to think about that. And that's where we can, you know, there's it's like not a one size fits all, but we really work with the patient to see what's the best decision for them.
1:10:16
The last question that I had was how you reach out to that underserved community to try to bring them in for either clinical trials or genetic testing?
1:10:26
So that's a great question with the genetic testing piece of it. So I don't necessarily work with clinical trial. So I'm not too familiar with what recruitment strategies are there. But from a genetic testing standpoint, so one thing that I'm involved in, I know here at Dana Farber, we have a community Cancer Care Center over at the Whittier St. Health Center. So that's a federally qualified health center, actually, probably about 10 minutes away from here in Roxbury, so about four times a year, I go there, along with the geneticist on our team and there's also other people on staff there too, like a nurse, and someone from research as well. We go there at the federally qualified health care center where they're typically used to coming in for their care anyway. And, you know, offering genetic counseling and genetic testing right there on site. And so far from what we've seen as that testing uptake is basically comparable to testing uptake here, which is encouraging to say the least. But at the same time, I think there's definitely there's always going to be room for improvement, I think so, a lot of times the people that we you know, the population, the patient population, we're seeing there are people who might not, you know, maybe coming in on a weekday is really hard for them if they have like, you know, hourly jobs and stuff, sometimes transport is an issue. So I think that's something I definitely think about a lot is, you know, what are ways in which we can make genetic testing and such accessible to them you know, in a way that that, you know, that they're able to that actually make it to the appointment.
1:12:06
Do you chase after grants because the economic wherewithal to to pay for it? That's a great question. So we know that some labs that we use are really, really grateful for some of these labs that actually do have, say policies where, you know, if you have MassHealth, then you have zero out of pocket. So we don't have to worry about any kind of out of pocket cost to the patient. In that case, a lot of the labs have very, very generous patient assistance programs where if you have if you're, you know, at a certain level, kind of over even the poverty line, sometimes there's something you know, to zero out of pocket costs, very generous information there as well. But we don't currently have any grants right now that where we can, you know, directly, you know, right off the bat say, Yep, we've got grant money for this. But, you know, I think that's absolutely something that could be helpful too.
1:12:56
Fatima, thank you so much for a phenomenal conversation this was amazing. I felt like our energy was just feeding off of each other. And we were just like so excited to be talking about all things genetics. Thank you so much for sharing your wisdom and expertise and answering all of the questions that we have. So, until next time, and thank you everyone for listening to our show. I would like to acknowledge that all of the information on our podcasts are from personal experiences, and are not a substitute for professional medical advice, you should always contact your medical care team. If you're looking for specific topics or would like to be a guest on our show, please feel free to reach out to me. My email is laura@survivingbreastcancer.org. Until next time, keep on thriving.
Transcribed by https://otter.ai