Demystifying Genetics

Demystifying Genetics for Hereditary Breast and Ovarian Cancer Week

October 02, 2018 Matt Burgess Season 1 Episode 10
Demystifying Genetics for Hereditary Breast and Ovarian Cancer Week
Demystifying Genetics
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Demystifying Genetics
Demystifying Genetics for Hereditary Breast and Ovarian Cancer Week
Oct 02, 2018 Season 1 Episode 10
Matt Burgess
This week is Hereditary Breast and Ovarian Cancer Awareness and I was lucky enough to have three fabulous guests on Demystifying Genetics. First Guest – Ellen Matlof, Genetic Counselor & Director, My Gene Counsel Ellen is a genetic counsellor extraordinaire in Connecticut, USA, with many years experience working in the familial cancer setting. We discuss: • The role of the Genetic Counselor and their role in the ordering and interpretation of genetic results • What a gene is and what variants in a gene means • The My Gene Counsel Living Lab Report • Hereditary cancer testing including BRCA1 & BRCA2 • APOE testing and dementia • Gene patenting • Case studies of misinterpretation of genetic results due to no genetic counsellor being involved Second Guest- Nicole I go on to speak to Nicole. She has recently found out she has a BRCA2 mutation and was lovely enough to come on the podcast to share her story. We talk about how she came to have genetic testing, the impact it has had on her life and that of her family. Third Guest – Krystal Barter – Founder of Pink Hope Krystal has a very strong family history of breast cancer and she found out she had a BRCA1 mutation at 21. After having a preventative double mastectomy, Krystal founded an online support organisation called Pink Hope. Pink Hope is a fabulous resource.

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Show Notes Transcript
This week is Hereditary Breast and Ovarian Cancer Awareness and I was lucky enough to have three fabulous guests on Demystifying Genetics. First Guest – Ellen Matlof, Genetic Counselor & Director, My Gene Counsel Ellen is a genetic counsellor extraordinaire in Connecticut, USA, with many years experience working in the familial cancer setting. We discuss: • The role of the Genetic Counselor and their role in the ordering and interpretation of genetic results • What a gene is and what variants in a gene means • The My Gene Counsel Living Lab Report • Hereditary cancer testing including BRCA1 & BRCA2 • APOE testing and dementia • Gene patenting • Case studies of misinterpretation of genetic results due to no genetic counsellor being involved Second Guest- Nicole I go on to speak to Nicole. She has recently found out she has a BRCA2 mutation and was lovely enough to come on the podcast to share her story. We talk about how she came to have genetic testing, the impact it has had on her life and that of her family. Third Guest – Krystal Barter – Founder of Pink Hope Krystal has a very strong family history of breast cancer and she found out she had a BRCA1 mutation at 21. After having a preventative double mastectomy, Krystal founded an online support organisation called Pink Hope. Pink Hope is a fabulous resource.

Support the Show.

Matt Burgess (00:00:07):

Hi, and welcome to Demystifying Genetics. Today on the podcast, I have three speakers all talking about hereditary breast and ovarian Cancer Awareness Week. So this podcast is all about BRCA mutations and testing and genetic counseling and things to do with hereditary cancer. I have a series of podcasts where each podcast I talk about a different genetic issue or genetic counseling. So if you'd like to know a bit more about me, maybe check out my first podcast or other genetic conditions. Have a look at the other ones. But today, it's all about hereditary breast cancer. Hello Ellen, and welcome to Demystifying Genetics.

Ellen Matlof (00:00:55):

Thank you so much, Matt. It's exciting to be here.

Matt Burgess (00:00:57):

Yeah, it's really exciting. I know we've been sort of following each other on social media for the last year or so. So yeah, it, it it's really exciting to, to have you on and to talk a little bit more about hereditary breast and ovarian cancer.

Ellen Matlof (00:01:14):

Well, thank you. So

Matt Burgess (00:01:15):

Can you tell me a little bit about what you're working on at the moment?

Ellen Matlof (00:01:20):

Yes. So I am also a certified genetic counselor, and I was in clinical practice and hereditary cancer for 18 years at Yale Uhhuh <affirmative>. And I left four years ago to start a company called My Gene Counsel,

Matt Burgess (00:01:38):

Uhhuh <affirmative>.

Ellen Matlof (00:01:41):

And so we do something a little bit different when I was at Yale, and I'm wondering if you can relate to this as well, Matt. I saw that the cost of genetic testing was obviously dropping dramatically, and that more and more people were having genetic testing without involving a genetic counselor. Yes. And yeah, as a result, we saw a lot of people who were getting the wrong information, and we even started seeing people who'd made the wrong decisions, had prophylactic surgeries, and then realized that they didn't carry a true mutation. And unfortunately, we saw some people with advanced cancer diagnoses who in fact had been told they didn't carry a mutation when, when they really did. And we saw the need to develop a affordable digital form of genetic counseling that would be available for the consumer when and where they needed it, either before having genetic counseling with a live person or a genetic counselor by phone or after they saw a genetic counselor is a way to keep them updated as the field changes

Matt Burgess (00:03:00):

Uhhuh <affirmative>. Yeah, no, you're definitely right. It is something that I, I, I have seen, I think the, you know, I'm not sure if it's the same in America, but when I started out in, in genetics about 15 years ago people used to say that genetics or genetic counselors and the genetics doctors were sort of the gatekeepers to mm-hmm. <Affirmative> to testing. And it was kind of a, a negative or you know, a pejorative thing to say. But I guess on the other hand, it was, it was a good thing because we were able to sort of explain the results and order the most appropriate test. And, but back then, you know, we were testing one gene at a time and it was like, you know, thousands of dollars. Whereas now people can order their own tests and it's hard for people to kind of know what they're ordering and they're having, you know, hundreds of genes looked at for, for a couple of hundred dollars. And I think it, it's hard for people to keep on top of that. So it sounds like this product is something that kind of helps navigate that a little bit.

Ellen Matlof (00:04:10):

It does. It helps them navigate it, and we match people by gene and variants to streams of information so that over time, particularly as we have more genotype phenotype specific information, we can reach back out to people and we can also invite them to clinical trials, collect outcome data, and the consumers themselves provide feedback on the product. Yeah. So it really becomes their product and they are kind of paying it forward, kind of telling us what they wish they had known when they got their test results, so that the next person is better informed.

Matt Burgess (00:04:59):

Excellent. Okay. Now you've said a couple of things that I think I just wanna sort of clarify or, or help define. So I guess the first thing was Gene, and I think we, we all sort of have an understanding of what a gene is, and when I'm in clinic, I sort of say it's like you know, an instruction or, you know, it's a code for something that our body needs. But you went on to say something about variance in a gene. So can you kind of just explain what that means?

Ellen Matlof (00:05:31):

Sure. So the way I think about it is that if you think of our body and the instruction book for our body almost being like a long, let's say a, a 1000 page book of instructions, let's call each page in the instruction book a separate gene mm-hmm. <Affirmative>, and the different letters on the page, different variants, and certainly there are different ways to spell the same word. And some of those vari variants or variations really have no impact on the instruction. So, for example, if you were to spell the word harbor, h a r b o r or harbor, h a r b o u r, it has exactly the same meaning, but there are other words that if you replace a letter in that word, you get a completely different word and it changes the instructions or the genetic code. That's how I would describe variants and a gene. Excellent. What do you think about that, Matt? Would you describe it differently?

Matt Burgess (00:06:42):

No, I think, I think that sounds good. So, you know that, that kind of makes sense. You went on to say phenotype and genotype. What do those two words mean?

Ellen Matlof (00:06:56):

So I always think of genotype is someone's genetic makeup. So for example, let's say that someone's genetic makeup is a t t that's their genetic makeup. If you read their instruction manual, it might say that their phenotype is their physical makeup. So maybe one person has red hair and another person has brown hair. That's their physical makeup that's tied to that genetic code.

Matt Burgess (00:07:28):

Okay. Excellent. So sort of the genotype is, is like the actual code itself, but the phenotype is, is what we can actually see?

Ellen Matlof (00:07:38):


Matt Burgess (00:07:39):

Okay. So if people have their their own test, you know, they've organized genetic testing by themselves and you know, it, it's hard to work out whether it's a good product or, you know, maybe not so good. How does the product that my gene council, like how, how does, how does it actually work?

Ellen Matlof (00:08:02):

So that's a fantastic question. And so one of the things that consumers do when they come to the site, they register and they upload their genetic test results. And the reason for that is that on our end, we match them to a stream of information. And so we know if that laboratory is a medical grade laboratory and they should receive information that's tied to medical grade genetic testing, or if that laboratory is more of a direct to consumer or a entertainment type of genetic code. And then they would get a different stream of information that would explain the difference between the two uhhuh. And that would suggest that they may wanna repeat that test in a medical grade laboratory.

Matt Burgess (00:08:56):

Okay. And I think it's hard for the layperson sometimes to kind of work out the difference between what a medical grade lab is and sort of what you know, these direct to consumer or sort of more lifestyle sort of tests. And so does that mean that with your product, that, like is it an ongoing thing where you know, you contact people over time? Or is it like a one-off sort of piece of advice?

Ellen Matlof (00:09:29):

I'm glad you asked that. We call it a living laboratory report because instead of being a printout or a PDF that's stagnant in one time, this report does update and notify you by text or email over time. So as a genetic counselor, I can't tell you how many times when I was at Yale, we would be standing in front of our filing cabinets with thousands and thousands of patients, and we would get some important update in the field that a medical management recommendation had changed. Or we would learn that, let's say a variant had been reclassified and that we now know that that particular genetic change did cause disease or did not cause disease. And we would always think like, how are we gonna contact or recontact all of the people to whom the supplies? And so that's what we've built is a way for these consumers to get living lab reports that notify them by text and email whenever anything critical changes

Matt Burgess (00:10:42):

Uhhuh it, it's something, yeah, the example you just gave of standing in front of the files and sort of worrying about it, it's something that I sort of am concerned about as well. And when people have like a test for something else, you know, if they have their cholesterol measured or, you know, a full blood count or their iron or something, it's kind of accurate for that time point. And, and that's right, kind of like an indication. But the thing that's different with genetics is that it actually it's not that the genetic code can change, but our interpretation or our knowledge can change and we have to actually go back to that test sometimes down the track. And I think that one of the issues is trying to, to, to work out how to manage that. Should that be something that the lab does, and they take care of that. And, you know, as a clinical person, we don't have to think about that or, you know, is it up to us, you know, when we sort of give results to people you know, should we put the emphasis or the onus on them to, to get back in touch with us, you know, every couple of years to, to, you know, to check in and see if anything's changed. And I don't really know if we've kind of come up with the best solution to that at the moment.

Ellen Matlof (00:12:09):

So our feeling about that is that you don't really want, you know, the laboratory to be the one feeding information directly to the patients. Right. So you'd prefer it to be a third party unbiased source of information who isn't trying to sell a test. And when you think of how many laboratories there are in the world, and some of the laboratories are acquired, some of them go out of business, it doesn't really seem like the best idea to have every single laboratory have to create a reification system. And so we think it's best to have a third party unbiased source and a company that's created and run by genetic counselors, people who really understand this information. And, you know, when I was at Yale, we often told patients, oh, you should contact us once a year, but most often we would see a patient once or twice and then never again. Mm-Hmm. <affirmative>, they never came back in, they never recontacted us. And so we really think that having a digital solution that reaches out to them on their own device, and you know, even if they move, you still have that device with you that that really makes the most sense.

Matt Burgess (00:13:31):

Yeah. Yeah. Oh, it's, well it sounds very good. It sounds interesting. So you've been a genetic counselor for quite a while now. You did your genetic counseling training from 1991 to 93 and you became board I did, you became board certified in 1996. And it sounds like since that time you've spent a lot of that time working in familial cancer. I, is that correct?

Ellen Matlof (00:14:00):

I did. I spent my first few years in general genetics in pediatrics, and then the rest of the time really focused on cancer.

Matt Burgess (00:14:10):

Ok. And so the product that you have at the moment is, is it just for cancer or is it sort of for any genetic tests that people have had or,

Ellen Matlof (00:14:22):

So we are launching with just B R C A one and two, and that launch will occur for breast and ovarian cancer week, the first week in October, Uhhuh <affirmative>. And then we will quick, quickly roll out to the remainder of the hereditary cancer genes and then onto the cardiac genes. And then after the cardiac genes, we're going to be unrolling the A P O E findings, as well as the other findings that the American College of Medical Genetics req, or I should say, recommends that you return if you find those doing another genetic test. And I know that's a mouthful <laugh>, but that's kind of our roadmap. And then we're looking at pharmacogenetics. Yep. Which, as you know, means the genetics associated with taking medications, what medications work, which medications cause side effects, et cetera.

Matt Burgess (00:15:27):

Wow, that sounds massive. I, I guess the out of the list of the, the different products or the different areas that you're focusing on, the one that kind of stands out a little bit is the apoe. So that is related to someone's risk or of developing dementia. Can you tell me sort of correct, what, what, like how you, what you'll sort of be doing with APOE and how that sort of works with people?

Ellen Matlof (00:15:56):

Sure. We recently added that to our list because we were told that there's a great need and the direct to consumer community of people having these spit kits and downloading their raw data and having the raw data interpreted by a third party, and that as much as 10 to 15% of people are getting some result that affects APOE uhhuh. And so there's a lot of questions out there about what that means and what it doesn't mean. And so that's why we're developing that product.

Matt Burgess (00:16:36):

Okay. So are there, I guess when you have apoe, or my understanding is when you have a p OE testing, you can sort of get a low risk, a, a normal risk or a high risk sort of association with dementia. Do you think that right, is do you mean that people are having testing but they don't really understand the results and they're making correct, inaccurate conclusions or

Ellen Matlof (00:17:04):

Correct. And so we're trying to res what we're doing is trying to be responsive to needs in the community, both in the medical grade testing community, people who've had testing through their doctor or through their genetic counselor, but also to people who have done testing on their own through one of these direct to consumer tests and who are confused and potentially worried about a test result. We just wanna make sure to get accurate in information into their hands, uhhuh, and to get it into their hands quickly. So I don't know what it's like in Australia, but here in the states, particularly if you're looking to see someone for hereditary or cardiac disease, it could take you as much as nine or 10 months to get in person genetic counseling mm-hmm. <Affirmative> with a specialist. And so we wanna make sure that we can get that information into people's hands much more quickly, not, you know, just so they can get the information quickly and have it, and share it with their doctor. And then they can still go in and see a genetic counselor, but they're not waiting and sifting through material on the internet. Yeah. And trying to make sense of what is accurate and what is not.

Matt Burgess (00:18:28):

Yes. I think, I think we have the same issue. Well, I think it's a public health issue in Australia that people are waiting a long time to, to get in to have genetic counseling or to, to see a genetic counselor or a genetics doctor. And I find that a lot of the time people sort of make you know, they make assumptions. Sounds like I'm blaming people and I, I really don't mean to, but I think that there's worry that people have that when they actually sit down with a genetic counselor, it's like they've been worrying over the wrong thing or they've completely overestimated their risk or you know, I think as a genetic counselor, I think genetic counseling is fabulous, but I, you know, especially in our community now, we have really fast access to information. You know, we all have the internet around us all the time, and if we want information, we can get it really quickly. And it is an issue when people need to kind of wait to get sort of accurate or sort of the information that is explained directly for them.

Ellen Matlof (00:19:42):


Matt Burgess (00:19:43):


Ellen Matlof (00:19:43):

Yes. I, I think so. And unfortunately when we turn to the internet, as you know, you just have this deluge of information. Some of it's accurate, some of it's completely wrong, and a lot of it is information that's hard for the average consumer with no background in genetics to digest. And so we've written our living lab reports in language that people can understand, uhhuh

Matt Burgess (00:20:12):


Ellen Matlof (00:20:13):

Cons, consumers, but also physicians who may not be well-versed in genetics and need to take that information and maybe digest it in 10 minutes so that they can go in and discuss it with a patient.

Matt Burgess (00:20:28):

Yes. And I think that yeah, that sounds great because I think something that sort of surprised me was that not every doctor or, you know, medical person out there has a really high level of genetics mm-hmm. <Affirmative> you know, there are some doctors that have done a lot of genetics in their training and others that haven't done a lot, and genetics is complicated. So I think if you know, there's a, a tool or something that makes it a, a bit more sort of easily accessible for everybody, you know, that that's a, that's a good thing.

Ellen Matlof (00:21:06):

I think so, and I think that in many ways we're unfair to our healthcare professionals in assuming that in a 14 minute or 16 minute visit, they could do a physical exam, assess the patient for whatever problem they're there to see them for, and then also be a genetic counselor. I think that's really unrealistic and unfair. And even if they did have good training in genetics, it's highly unlikely that they can keep up on the field of genetics with the pace of change that we're seeing. I find it hard to keep up <laugh>. So, you know, I think we really need to be more understanding that healthcare providers are not genetic counselors and that we need to provide them with tools to help them really process this information and use it and help their patients use it.

Matt Burgess (00:22:02):

Yes, yes. Now, you mentioned before that this product or the, the, the, the first version, which is the, the BRCA or the, the Hereditary Breast Cancer version of the product is coinciding with the hereditary Breast and Ovarian Cancer Awareness Week. Can you tell me a little bit more about the Awareness Week?

Ellen Matlof (00:22:28):

Sure. So as you know, September is ovarian Cancer Awareness month, and October is breast cancer awareness month. And so the week beginning with September 30th and leading into October 1st has kind of been classified as hereditary breast and ovarian cancer week. Yeah. So there's just a lot of attention given to that week, and hopefully a lot of podcasts and articles and stories, media stories just directed toward genetic testing and awareness of the options for genetic counseling and genetic testing.

Matt Burgess (00:23:09):

Yeah. Okay. And so I guess one of our roles as genetic counselors is to be an advocate for, for our patients. And, you know, when I think of you as a genetic counselor, one of the things that I think about is how you were involved with the Gene Payton in in the court system in America with brca. Yes. And I guess, you know, from what we see in the movies and on television about America, it see seems like quite a litigious society. But you tell me sort of how that all came about and sort of the the legal side of BRCA and sort of what your involvement was.

Ellen Matlof (00:23:57):

Sure. When I graduated from graduate school, as I mentioned, I worked in pediatrics for a few years and was then recruited to Yale to start this program in cancer genetics, which was brand new. And a few months after my arrival, b RCA one and b RCA two were discovered and we were doing testing on our laboratory. And it was the most amazing thing because all of these families with family histories that we had just had to counsel patients that, okay, based on your family history, there's a 50 50 chance you carry the cancer gene in your family. Now we could actually offer them a test. Uhhuh and I, you know, it was amazing. I just watched it change lives and we were doing it for several years, and then suddenly our lab director received a cease and desist order, and it was from Myriad Genetics saying that they held a patent on these two genes and that we were to no longer do any genetic testing.


Wow. And it was shocking. It was absolutely shocking. And overnight we stopped doing the test. I had to send all of the testing to Miriad Genetics because they held the patent on those human genes. And the cost of testing rose from $1,600 on our, you know, old academic laboratory equipment uhhuh to $2,400 per, per person overnight. Wow. And then over months and over years, it rose to $4,400 per patient, even though the cost of genetic testing was going down, Uhhuh <affirmative>. And we saw all sorts of things going on. We saw this very aggressive television campaign with advertisements and magazine advertisements, radio advertisements, really convincing people that they should have genetic testing. And in my opinion, it wasn't even giving terribly accurate information. It was scare tactics in my opinion. And so I was a young genetic counselor at the time, and I felt that this was wrong, that you shouldn't be able to patent a part of a person's body.


Yeah. And I started giving lectures about it and writing about it. And I have to tell you, I was very unpopular because of this, because I was told by my national society that the company I was criticizing was the biggest employer of genetic counselors in the world. And that I was offending a lot of my colleagues. Okay. <laugh>. And yeah, I was kind of a pariah for speaking out against this, but I kept speaking out against it, and eventually I found a well-known bioethicist by the name of Art Kaplan, who had similar feelings. And I had written a paper on the topic and asked him to be a co-author, and he did. And because of his name, the article ended up on the cover of, I believe it was the American Journal of Bioethics. And

Matt Burgess (00:27:24):

So when, which year was this? How long ago are we talking about?

Ellen Matlof (00:27:31):

So I think I started this fight in 1998.

Matt Burgess (00:27:35):

Wow. Okay.

Ellen Matlof (00:27:37):

And I believe the paper, gosh, and I wish I had this in front of me, but it was in, let's say the mid, like 2004, 2005 ish time period. Yep. And a few years later, I got a phone call out of the blue from the American Civil, civil Liberties Union, which I knew very little about. And they said that they had gotten millions of dollars to go after the B R C A patents and would I be a plaintiff. Wow. And you know, I then learned that I was putting myself at some risk of being fired <laugh> by my university but also some financial risks being involved in a major lawsuit, but I decided to do it anyway. And as you know, it went to the Supreme Court in the United States, and in 2013, the gene patents were they were abolished. And so it took from 1998 <laugh> to 2013.

Matt Burgess (00:28:47):

Wow. What an amazing story.

Ellen Matlof (00:28:51):

It was a really long battle.

Matt Burgess (00:28:54):

And so the sort of what's the right word? The, the, the issues or the, the tension that you sort of felt from your colleagues, did that all sort of go away or how, how did, how did things sort of appear after that court case was won?

Ellen Matlof (00:29:15):

Yeah, it was fascinating because I faced tension, not just from my colleagues, but from several of the national B R C A groups were initially against the lawsuit, which I find shocking looking back at it now. But there were also, you know, I submitted a paper to one of the highest journals in the United States and received a nasty letter back from the editor saying that, you know, gene patents were the only thing involved in innovation. And without patents, we'd have no more genetic discovery. The pharmaceutical in industry was very much against abolishing gene patents at the beginning. So it was universally unpopular <laugh> until it went to the Supreme Court. And the day I showed up with many others at the Supreme Court, I was absolutely shocked to find hundreds and hundreds of people there with signs against the patents. And I thought, oh my gosh, there are people on our side. It was great <laugh>.

Matt Burgess (00:30:24):

Wow. No, that sounds, that's that's a crazy story. Yeah. And yeah, it was crazy. It kind of just doesn't make sense or, I mean, maybe I, I don't understand the issues, but, you know, to to think that you know, parts of our body or, you know, parts of our genetic code can be patented and, you know, restricted you know, people can restrict access. Like, it, it doesn't sound like it's a, a good thing for open knowledge or science, or it doesn't sound good at all.

Ellen Matlof (00:30:57):

Well, thank you. I agree, and I felt this way from the beginning, but I have to tell you, most other people didn't feel that way, or at least the people I was exposed to didn't feel that way.

Matt Burgess (00:31:10):

Mm-Hmm. So one of the other things that I know that you are currently working on, which I also find fascinating, is that you are sort of collecting cases where people may have organized their own testing or you know, gotten some raw data from like a ancestry test and run it through another program on the computer. And they, they've had misdiagnoses. I'm just wondering if you can tell me or sort of give me some examples of some some stories that you've heard of or some cases.

Ellen Matlof (00:31:48):

Sure. So this is the fourth paper in a series that we've done starting in 2010. And it's not only patients who've had direct to consumer testing, it's people who've had any kind of genetic testing and their test results have been misinterpreted. Um-Huh <affirmative>. And so unfortunately that's much more common than we'd like it to be. And we just collected these cases again, and we received them from all over the United States, from Canada, and I believe from several other countries of cases that to a genetic counselor might seem relatively straightforward, but in which either the wrong test was ordered and it was a huge cost to our health system or sometimes to the patient that people were told that they had a disease causing change in a gene, when in fact they didn't. And some of them unfortunately acted on it. People were told to get the wrong test for a completely different condition. So they really kind of range many different scenarios.

Matt Burgess (00:33:05):

Mm-Hmm. Mm-hmm. Excellent. Okay. Well thank you so much, Ellen, for joining me today on the Mystifying Genetics. Oh, my pleasure. I's been really good chatting to you. And I just wanted to say thank you for letting me, or not letting me, but when I was featured as a trailblazing genetic counselor on your website mm-hmm. That was really exciting as well.

Ellen Matlof (00:33:35):

Oh, well, we were so glad to feature you and I hope someday I can come to Australia and speak to you in person.

Matt Burgess (00:33:42):

That would be lovely. Excellent. Okay, <laugh>, well thank you and good luck with the launch of your product and with the Hereditary Breast and Ovarian Cancer week.

Ellen Matlof (00:33:52):

Thank you, Matt. I appreciate it.

Matt Burgess (00:33:54):

Okay, then. Excellent. now my next guest is a lady named Nicole. Nicole lives in Orlando, Florida in the United States. And she is going to tell us all about her BRCA story. So welcome Nicole.

Ellen Matlof (00:34:18):

Thank you. Thank you, Matt. I appreciate you having me today.

Matt Burgess (00:34:21):

Yeah. So I'm doing a, a special podcast at the moment for Hereditary Breast and Ovarian Cancer Awareness Week, which is coming up in at the end of September. And I was speaking to a genetic counselor who is a colleague Ellen from my gene council, and she said that you might like to come on and talk about your, your story and yeah. So yeah, that would be great. Yeah. So can you tell me a little bit about your family history and how you came to have genetic testing?

Ellen Matlof (00:34:59):

Sure, absolutely. Back in 2015 it was recommended by my gynecologist based on my family history that I go and talk to a gene counselor. I do have some cancer in the family. My father who's still alive has prostate cancer, Uhhuh, and his mother passed away of ovarian cancer in her late fifties. And my great-grandmother on that same side passed away of pancreatic cancer in her late fifties. Oh, okay. So all of those cancers are affiliated with the BRCA gene?

Matt Burgess (00:35:34):

Uhhuh. <affirmative>,

Ellen Matlof (00:35:36):

Yeah. So

Nicole (00:35:36):

We that, and I actually went to a gene counselor in 2015. But that criteria didn't exactly match what the guidelines were at the time. And I was getting basically observation, you know, doing my monitoring through MRIs and ultrasounds every six months. And so I kind of stuck to that route for a little while. And then just this past summer, a couple of months ago, went back to my gynecologist just for my annual that I do every year. Yeah. And they recommended that there had been some changes in the past couple of years with the guidelines and asked me to go back to the genetic counselor again and discuss getting genetic testing done, which I did. And the test results came back positive for BRCA two.

Matt Burgess (00:36:21):

Oh, okay. And, and so were you the first person in your family to have genetic testing for the BRCA genes?

Nicole (00:36:29):

I actually was, and I still am so far. Nobody else has gone to get it yet, so.

Matt Burgess (00:36:34):

Oh, okay. And do you think that that is like a thing to do with logistics or timing or do you think it's sort of deeper than that? Like they're maybe concerned about information about themselves that maybe they're not ready to find out about?

Nicole (00:36:50):

I would think it's a combination of both. I live, I live in a larger metropolitan city. I have a fantastic cancer center here that has a genetic counselor on staff as well as a high risk genetic doctor to go to for information. So I think it, in this area, it's readily available access to the testing uhhuh. I think some family members don't live in the big cities where some of the smaller hospitals don't seem to have those types of resources close by. Yeah. but I think, you know, that the years it's changed and even the last few years since I originally was recommended for me to go that the, you know, there's alternate routes to get tested as well if you don't go through you know, your local doctors and hospitals as well. So so I think that's part of it. And I think, you know, older generations maybe aren't as open to it as maybe some of the younger ones are.

Matt Burgess (00:37:41):

Okay. Okay. And so you had genetic testing and I understand that you've recently had some preventative surgery. Can you tell me I did a little bit more about that.

Nicole (00:37:54):

I actually just had a hysterectomy on this past Tuesday. Oh, wow. And it was done, yeah, it was just done a few days ago. It was done robotically with the Da Vinci. I had an amazing team of doctors. I actually went home the same day. And I've been home resting and recovering, but feeling great.

Matt Burgess (00:38:14):

Oh, good. Well, I'm glad that you're feeling well. Cause I mean, having it done robotically sounds, sounds amazing, but you know, like it's still surgery and still, you know general anesthetic and yeah, it can still knock you around a little bit.

Nicole (00:38:31):

Yes, it does. But I've had a great a great family support and I think as long as you rest and, you know, follow the doctor's kind of instructions for me so far, it has seemed to go pretty smoothly, so I'm very grateful.

Matt Burgess (00:38:44):

Oh, good. Now you mentioned that you were lucky enough to have a good genetic counselor who was able to organize the tests and sort of explain the results and, and that sort of thing. Can you tell me a bit more about the reason or what the reasons were that you signed up about my gene council and sort of how you found out about their website?

Nicole (00:39:10):

Absolutely. I think for me, you know, going into this whole thing, I was a little bit surprised when my results came back, only because originally they told me I didn't really have enough family history. So you get hit with news like that, and I think the first thing we wanna do these days is find out, you know, as much information as we can. And kind of going through that, you know, obviously I went down the traditional routes of meeting with doctors and the local genetic counselor, but as we all know, we have a wealth of information available to us these days on the internet. Mm-Hmm. <affirmative>. And I really feel like I had, you know, read an AR article about BRCA and a Time Magazine and it kind of talked about, you know, knowledge is an opportunity to empower ourselves. And I really feel like, you know, when you find out something like this that we can take it as a positive and find out as much information as we can, you know, to make really informed decisions for ourselves and for our healthcare, you know, and what best needs our situation and needs.


 And part of that for me was, you know, doing my own research online. The only problem and issue with that kind of was that, you know, there's so much information online that it's really kind of, it's difficult to sift through it and figure out, you know, which parts of this online information are credible and useful you know, and what you're gonna do with it when you find it. One of the things I did find on during my online research was, you know, there's a lot of great support groups out there Yeah. Through do social media. And one of them was BRCA Strong, which was a nonprofit organization that a girl Tracy Milone had started who also had the gene. And on that social media website, I found out about my gene council and went on to it and started researching it.


And I was just immediately impressed by Ellen's background who I know you all have spoken with in genetics as well as her team and board members. It just seemed like really credible information. Yeah. informative, you know, and I really loved that it was all in one location and that, that to me was really important. It's just a lot of stuff to sift through, and I felt like many of my questions and a lot of, especially the data I was looking for, you know, I really wanted credible data was available through their website my gene council. Oh, I see. So to me it was, yeah.

Matt Burgess (00:41:23):

So it, it sounds like you sort of have done a lot of research, like looking at a lot of different sort of sites and speaking or, you know investigating lots of different sort of support groups and things like that. Do you think that this product would also be useful for people that are sort of the opposite, who you know, don't have a lot of time or haven't really done any research and they kind of need a bit of guidance or?

Nicole (00:41:50):

I think it's great for, for all people in every, you know, different situations. I mean, me having my gene counselor here you, you go to the one visit and it, you know, it's difficult to get appointments and I can tell you weeks later you still have more questions. Yeah. and then I think there's a lot of people who, like you had mentioned earlier, live in more remote areas and don't have access to the resources that you might have in a larger metro city. I think my gene council can be good for both of those situations because I went in there already having my r you know, conversation with the counselor and even found out more information. And I've spoken to people who don't have access to that, and it's a great resource for them to, you know, start their initial search. So I think if you're new to it and you don't have any information, it's great. But if you have information, I think it's just gonna build on that and provide you with an even better tool, you know, to aid in, in your choices you're gonna make. And for me on my bracket journey.

Matt Burgess (00:42:44):

Okay. So, you know, we're, we're reporting or we're recording this podcast as part of the hereditary breast and ovarian Cancer Awareness Week. And I'm just wondering are you doing anything to sort of mark this, this period of the year, or how are you getting involved with this week?

Nicole (00:43:07):

Well, for me this is all very new to me. Obviously, I just found out at the end of July and just having had surgery this is all kind of a new world to me, and Wow, I definitely wanna be an advocate. Yeah. So it's, it's fresh for me though, where I'm still doing a lot of research and kind of figuring out where it's hearing me. But I do feel like it's one of those things where it gives you a platform to help others and also, you know, just even by speaking to you and letting other people know that there's resources out there and support groups out there, you know, to help you when you find this information out. And to really take it as a positive and be able to make informed healthcare decisions, you know, for ourselves.

Matt Burgess (00:43:43):

Mm-Hmm. Mm-hmm. Ok. And I mean, it sounds like you, even though a lot has happened in your life in the last couple of months, you know, you've had testing and had surgery and sort of had to get your head around it. The idea of genetic testing for you has sort of been something that's been around for a number of years. What advice would you have for women that are considering testing and for women that maybe have not sort of had time to really reflect on the different issues?

Nicole (00:44:17):

I, you know, I think it's a personal choice for people. It's, it's big information to take in. You know, you'd have to decide if you're ready to know, but I think knowing gives you options. So I would encourage people, you know, if it, if it's something that they're, they're thinking about, you know, to take all of that into account, but to go into it kind of with a, a positive mindset of, you know, you're giving yourself some information to be able to make more informed healthcare decisions about your own body. And everyone's not gonna choose the same path, but having the information, you know, gives you power to make those choices. Mm-Hmm. <affirmative>. And I, I, and I do feel like, you know, there's resources out there, i, i just to look for ones that are credible and, and you know, have data that, you know, is coming from a good source. That, that would be the, the recommendation that I would make with that is just to go into it kind of with an open mind, but have an idea, you know, what's coming because it's, it's some big information to take on.

Matt Burgess (00:45:13):

Yeah. Ok. And something that I hear a lot in clinic here is when people say, oh, look, I'm not so much doing it for myself. I'm doing this for, for my children. Do you have children yourself?

Nicole (00:45:27):

I do have two children, yes. I have a 12 year old and a 14 year old.

Matt Burgess (00:45:30):

Okay. And what sort of advice or what's your thinking about genetic testing for children? And not that I'm sort of advocating that children be testing tested, but how do you sort of bring it up with them? Or do you talk to them about this?

Nicole (00:45:50):

In my situation in particular my kids know what's going on a little bit, and I've had surgery and I've kind of positioned it more as I've, you know, found out from the doctors that I'm predisposed and have a, a stronger likelihood of getting cancer. I haven't gone too much into the gene component of it, just, just for my personal situation because I feel like that's a strong you know, a big, big thing to tell them at their age right now. Yes. Yeah. And I don't know that there's anything that they can do with the information that I feel like would be useful or positive for them. Yes. I did talk to a gene counselor about that they don't rec really recommend, at least not where I'm going for the kids to get tested till it's their choice and you know, they're in their adulthood. Yes. so we haven't really gone into the details of all of that, but they do have an understanding that I'm making choices about my healthcare to try and prevent, you know, having cancer in the future.

Matt Burgess (00:46:42):


Nicole (00:46:43):

Okay. And they've been very supportive about that, so.

Matt Burgess (00:46:46):

Oh, good. So I guess that means sort of as they, they get older and they're more mature and they're able to understand things, you'll sort of introduce the idea of testing to them and explain that they can have testing when they're old enough.

Nicole (00:47:01):

Absolutely. And I think too, you know, technology and medicine and everything is advancing at such a rapid rate. I, I think as parents, I would imagine a lot of us who are in this similar situation are just hopeful that by the time that time comes, you know, there might be more and different information that you would be sharing with them than we are now, but hopefully there might be different alternatives for them than we're choosing from at the moment. And that's actually one of the things that I was a feature of that my gene counsel I found to be really appealing when looking into it was if they have a living lab and send you update to date information uhhuh ongoing through the years. So even though I'm dealing with this now, I have this hope for my family and for my kids that if I ever need to in the future, I'm getting, you know, up to the date information medically on clinical research trials and, and knowing ahead of time and as we go into the future different things that might come up that could be a positive thing, you know, for the rest of the family.

Matt Burgess (00:47:59):

Yeah. Yeah. So it's sort of time dependent or, you know, it, it depends on where you are in, in your own journey to sort of what information you need at that time.

Nicole (00:48:12):

Right, exactly. Yeah, exactly. Yeah.

Matt Burgess (00:48:15):

Okay. And you sort of touched on this, but I kind of wanted to ask you more about sort of the process of genetic counseling or sort of the importance of having a, a genetic counselor there. I know that it's becoming sort of easier and easier now to organize your own tests online and, you know, you can you know, send off your sample to a lab and sort of organize your own test. And I'm just wondering like if you could sort of just comment on how you found the process of genetic counseling and whether it was beneficial to have someone there with you or not really, or

Nicole (00:48:57):

I think it's important for the genetic counseling to come from what you feel like is a reliable, incredible source. Obviously I don't know if it necessarily to me would've made a difference if I got the genetic counseling in person or over the phone. Initially when I went into the testing my gynecologist's office actually doesn't have an onsite genetic counselor. They do it over the phone. They put you in touch with one on the phone in the office. Yeah. So my initial contact with the genetic counselor was via telephone. And then once I got my results back, I was then referred to an in-person genetic counselor. For me, I don't think in-person, out of person, you know, over the phone if you're talking to somebody online really makes a difference. Uhhuh <affirmative>, as long as you feel like it's coming from a credible, you know, a credible source.

Matt Burgess (00:49:45):

Okay. Well thank you for your time today. It's been really good having you on the show and to sort of talk about your experience of of this BRCA gene.

Nicole (00:50:00):

Oh, you're welcome. Thank you for having me.

Matt Burgess (00:50:02):

Okay then. All the best, Nicole.

Nicole (00:50:05):

Thank you, Matt.

Matt Burgess (00:50:06):

Thanks. Bye-bye. Excellent. So hello Crystal. Thank you for being part of this special podcast that I'm hosting today on the Mystifying Genetics. This podcast is all about hereditary breast and ovarian cancer, and when I thought about having two international or two American guests, I thought I really need someone who's Australian who understands this stuff really, really well. And you were the first person to come to mind. So thank you so much for, for being on the show today.

Krystal Barter (00:50:47):

My pleasure.

Matt Burgess (00:50:49):

Excellent. So can you tell me a little bit about pink Hope?

Krystal Barter (00:50:54):

Sure. So the organization is a preventative breast and ovarian health organization, and I started at, it sounds incredibly melodramatic, but from my hospital bed when I was 25, and I was navigating my preventative double mastectomy and the choices and options that were available at the time for me uhhuh. And it's grown exponentially in such a short space of time, obviously in line with genetics, the Angelina Jolie announcement. Yes, <laugh>. And the fact that women really are wanting to be empowered when it comes to their risk and their health. And I think, you know, being a part of this movement to ensure that women have this knowledge and can then interpret their risk accordingly and make preventative actions, whether that's screening or surgery or sharing this knowledge with other family members is quite a powerful thing to be a part of.

Matt Burgess (00:51:51):

Mm-Hmm. So you had a double mastectomy at 25, like that just sounds enormous. What, what was that like?

Krystal Barter (00:52:00):

Yeah, having a preventative go mastectomy at 25 I was probably at a different stage in my life to most 25 year olds. I had two young children at the time. And you know, I was at a point where it wasn't just a decision for me, it was a decision for my kids and my future uhhuh. And a normal 25 year old probably is not thinking about those things. But for me I was making a decision that ultimately was going to, you know, give me peace of mind, but also my reduce my risk to a point where I could you know, not be so stressed in my life.

Matt Burgess (00:52:42):

Uhhuh. Okay. So you have quite a strong family history of cancer, but when did you sort of realize that maybe you were at risk yourself of developing cancer?

Krystal Barter (00:52:58):

It was probably when I was around about 14 and my mum was diagnosed with cancer. It was horrible to kind of watch her go through all of these. Yeah. But it was even worse when kind of I looked around and pretty much every single woman in my family was either facing cancer had passed away or carried the scars of cancer. That wasn't normal. That's not a normal teenage <laugh> period of life where you're kind of growing your own breast and you're fearful that they're actually going to kill you. Mm. And obviously back then we just didn't have any knowledge around the BRCA gene or family health history. Like we were literally told by every specialist that looked at our family, there could be something going on or you could just be incredibly unlucky. And I was like, yeah, no, there's unlucky and there's cursed. And we felt like the latter.

Matt Burgess (00:53:54):

Mm-Hmm. Okay. And so when did it go from that to actual genetic testing?

Krystal Barter (00:54:02):

So it was when my nan was literally in hospital. She was talking about kind of what my family had gone through and Ingrid Winship, who's a really well respected geneticist, was in the hospital and said, look, we're, we'd like to test you cuz obviously there's a huge there's this new gene mutation out. And I think I was about 16 at the time, Uhhuh, gosh, that is Oh my goodness. Like 19 years ago. <Laugh> Yeah. Oh, far out. And so my mom and Nan were tested and they found the gene mutation in my mum first. And then when I was around 18, I was offered the test. Yeah. and I literally went in for the test, was all ready to have the blood taken, and then I literally just ran out crying and hysterical as you know, I was quite melodramatic, but I, I just wasn't ready. Okay. I wasn't ready. So it was when I had my first baby at 21 that I decided I was

Matt Burgess (00:55:10):

Okay. So you knew that genetic testing was sort of available before you were 18 and you sort of were growing up knowing that you could think about testing at 18 and you sort of went in and didn't think too much about it, but it was only when you were sort of sitting down ready to actually go ahead that you thought, wow, this isn't something that I'm ready for right now.

Krystal Barter (00:55:33):

Yeah, absolutely. Like being 18 I, I was quite immature and, you know, struggling with other things in my life at that time, and really I wasn't in a place that I would've been ready for that information. And I'm really grateful that I didn't have the test then, only because I was like, I just wasn't ready emotionally. Yeah. and for me it was very much like, you have this gene and you get cancer. Like, there was no fairytale in my family of here's a miracle, someone has this gene and hasn't got cancer. There is literally no one in my family.

Matt Burgess (00:56:12):

Yeah. Okay. And was there a genetic counselor involved with that process? 

Krystal Barter (00:56:20):

Yeah, absolutely. And you know, I thought I was okay and I thought I would be fine. And you kind of give that stoic appearance that everything will be okay. Mm-Hmm. <affirmative>, and then I got to a point where I realized when I was in the moment that I wasn't,

Matt Burgess (00:56:41):

Yeah, okay.

Krystal Barter (00:56:43):

So I, I had fantastic genetic counselors and geneticists that kind of held my hand through the whole process and I was very fortunate in that regard.

Matt Burgess (00:56:53):

Oh, good. Excellent. And guess so you said that when you were 21, and it wasn't until you sort of had fallen pregnant or were thinking seriously about having children or, you know, starting your family, that that was sort of when you decided that now was a good time for testing. I know for myself, I hear a lot of people sort of coming in for testing and saying that they're not necessarily doing it for themselves, but doing it for their, their children. It, it kind of sounds like yeah. When you decided to have children that that was sort of what catalyzed the idea or you know, that you were, that you were ready. I, is that sort of an accurate thing to say?

Krystal Barter (00:57:39):

Absolutely. So really for my family, it has been a family legacy and for, for me it was the moment that I became a parent that I realized it's not just about me anymore.

Matt Burgess (00:57:53):

<Laugh> Yes. <Laugh>. So like a good

Krystal Barter (00:57:56):

Parent. And I think being, being a parent in general, you have to be completely you, you can't be selfish anymore because really you wake up every day and your job is to be a parent. Yeah. And for me it was, I need to be as healthy emotionally and physically for them as much for me, but it was equally for them. And I felt nearly that it was selfish for me. And this is not, you know, the same for everyone, but I felt if I didn't have this knowledge and I buried my head in the sand, then the outcome would've been really bad.

Matt Burgess (00:58:36):

Mm-Hmm. Yeah.

Krystal Barter (00:58:39):

And it was getting younger and younger every generation in my family. Like my nan, my great grandma was 68, my nan was 44 and again at 53, and my mom was just 36, so I didn't really have time on my side.

Matt Burgess (00:58:51):

Yeah, okay. So it's incredibly big decision and sort of yeah. Some adult things to be thinking about and I, I like how you kind of said that these are things that normal or, you know, your average 20 something year old isn't really thinking about, but you know,

Krystal Barter (00:59:08):

But not ma not many 21 year old kids are having babies like my, that, that in itself was one of the biggest things that has ever happened to me. Like, he's nearly 14 and I always say like, he was the best mistake we ever made <laugh>. And you know, I've gone on to have another two children, so I must have liked, you know, being a parent. Yeah. Now, now it's hard when you've got teenagers and tweens and Oh my god, <laugh> full on. But yeah, being a parent for me has changed it in that moment. It changed my perspective on everything. Yeah. And especially when it came to the BRCA gene because each of my children have a 50% chance of carrying the gene. So it's not, it does not end with me. Mm-Hmm. <affirmative>, it's something that, you know, I've taken active steps to mitigate my risk, but are my children going to have the same choices or different, or how do you have open conversations with them and how do you make it okay for them to kind of deal with whatever the future might hold?

Matt Burgess (01:00:19):

Yes, yep. Oh yeah, they're, they're big issues. 

Krystal Barter (01:00:24):

Yeah, they're, they're not, you know, but I guess life and death issues happen every day and all sorts of families, and for my family at least, we have this incredible gift of knowledge that so many people in my family had to struggle through cancer. To, to, you know, to be able to give this knowledge to the next generation is incredibly powerful. And these options that I have, and hopefully my children will have even better, you know, previous generations never had them.

Matt Burgess (01:01:01):

Mm mm

Krystal Barter (01:01:02):

So as unlucky as I have felt, my outcome could have been very, very different had I not had genetic testing.

Matt Burgess (01:01:11):

Yeah. You described yourself twice already as being a little bit me melodramatic in the past and Oh yes. <Laugh>, how, maybe, you know, maybe you were a little bit selfish before you had children, but one of the things I think about you is how incredibly open you are. And one of the first times I think I I saw you or had heard of you was when you were your involvement with 60 Minutes.

Krystal Barter (01:01:41):

Yeah. That was, I think for me when I was going through the process of preventative mastectomy, there was no one that I could connect with and it was really, it was quite disheartening. I was navigating kind of some pretty complex physical changes, emotional kind of decisions that I had to make. And everyone in my family, obviously were cancer survivors or you know, a lot of people have not survived cancer in my family as well, Uhhuh <affirmative>. But I felt nearly like, not like a fraud, but I felt like the, what I was feeling wasn't warranted because they had gone through so much worse than I was. And kind of being in the hospital ward where there was a, you know, a 30 something year old woman down the hall from me who was dying from cancer and I'm laying in my hospital bed going, you have to ha change that mindset to go. I am so fortunate it may not feel that lucky now.

Matt Burgess (01:02:48):


Krystal Barter (01:02:49):

But how incredibly lucky I am to have this knowledge before. And no doubt that 30 something year old girl that was down the hallway from me, she would've wanted that. Mm-Hmm. <affirmative>. And I felt that I was in a position to be able to share what I was going through. And I felt so strongly for the fact that everyone I was connecting with was in America. I had really no emotional support throughout the whole process other than experts. And really, unless you're walking the experience and going through it, it's very hard to get that kind of comradery. Yeah. And I just wanted to share it because, you know, even to the point where some people are going, it's so crazy what you're doing. It's just dramatic. Like, you don't need to do this. And I went, I actually do. Like I'm not, I'm not living my fullest life, you know, even though my rest were, you know, B Cup, I felt like they were the, it was the way to the world.

Matt Burgess (01:03:58):

Yeah. Yeah. Okay. So with like growing up in your family with your family history and then going through your own sort of testing journey and finding out that you were positive to a mutation or a change in the gene and then having that lack of support or comradery, all of those features or all of those kind of things all came together to, to create Pink Hope and Yeah. You know, it's just an incredible kind of community or website. You know, I, as a genetic counselor that works clinically I see people that test positive to to brca quite often. And pink Hope is definitely one of the first websites that I recommend people go to. And just wondering yeah, what is it like having this you know, you kind of said that it's grown exponentially, but what is it like being the founder of Pink Hope?

Krystal Barter (01:04:57):

Yeah. I'm so busy a lot of the time and I have so many different health issues that are not just related to brca that I've kind of been facing over the years and three children and running Pink Coat, which is ultimately my fourth child. And being a wife, I really actually get time to sit down and go how amazing <laugh> <laugh>. And it's really only when people like say that, that I go, yeah, it is pretty incredible. But you know, obviously yes, so much work has gone into it. So much time and energy, you know, right at the beginning, I think, you know, when Angelina's story came out, I was walk working from my wardrobe in my house, me just running it by myself. Yeah. And it grew 701% in three days. <Laugh>. It was like, I, there was three days where I think I had eight hours sleep.


It was, there's been moments where I've gone far out, how am I gonna be able to keep up with it? But at the end of the day, it's really, truly, honestly the people that go, it's saved my life or I feel confident in, in the decision that I'm making because of it. And it's not just about me anymore. And I think that's the coolest bit is that, you know, I've got a programs manager and a small team in Sydney and we've got so many people kind of dedicated to the work that we do and so much support clinically. And, you know, I'm being invited to go and speak at a private dinner at the Cons Generals in New York about this issue. And it's like, there's mo those moments are so few and far between, but it's the everyday comments that I get that I go far out.


Like I started this, but it's so much bigger than me now, which is that's what I'm really proud of. Like, I could have given up so many times with how many hours it took and I wasn't earning a wage and my husband was an apprentice. Like, I think sometimes people don't know how hard it is to start something up Uhhuh and there's got to be so much grit and determination to ensure that everyone who's coming to us feels that sense of community. And I'm just so glad that I have a team now that can help me do it. Cause it was pretty exhausting. But now, you know, kind of looking back, it's definitely been a journey that's for

Matt Burgess (01:07:31):

Sure. Yeah. Yeah. And I mean there's lots of things that I like about Pink Hope, but one of the things that I, I really I really like and I think is a really good thing is that you have a good team of medical people that are involved. Mm-Hmm. <affirmative> you know, anyone can put anything up on the internet and there's a lot of information out there that's online that just isn't accurate. And

Krystal Barter (01:07:55):

Oh, and that's, it's a full-time job <laugh>. I think for us, we, we partnered with the Peter Macallan Cancer Center to, to go through our website Yeah. And to get clinical experts to really endorse and make sure the information that we had on the website is accurate. And I am very much like a educated patient. I always see myself as that. Yeah. So I'll always sit on that boundary between clinical information and how the patients interpret it because it's so hard. And with health literacy, everyone interprets things differently. So we try to make it as simple for people to comprehend as well while making it engaging uhhuh. Our Instagram is somewhere where a lot of people come to get inspired and educated around these issues. And, and our website really the hub of where all the clinical and really patient driven information is.


And we get thousands and thousands of people on it every day, which is incredible. But really at the end of the day, it's connecting those patients to each other, making sure that whatever decision they're making, they have a great healthcare team around them. And they're confident in whatever decision they make. Whether that's the screening path, the preventative surgery path, sharing this knowledge with their family. Like it's a, it's a complex area of health. I've probably chosen, chosen one of the most complex areas of health to focus on genetics. Yes. And it's changing every week. Yes. and it's, it's still in Australia, not as mainstream as I think it should be. Uhhuh. And I think we are getting to that point, but I've always been a big firm believer of give the women the information because they will always choose to live a long and healthy life.

Matt Burgess (01:09:59):

It, it's if

Krystal Barter (01:10:00):

You give them the right information.

Matt Burgess (01:10:02):

Yes. It's funny cuz I'm smiling. I'm just thinking, I think it's funny, I I kind of thought maybe it was just genetic counselors or clinical genetics where our work kind of increased dramatically when Angelina told us that she had a BRCA mutation. But it sounds like it was the same for you as well. Oh,

Krystal Barter (01:10:21):

I can remember. I think one of the it was mostly media driven obviously. It was like, I think I had something like 150 media interviews in three days. It was out of control <laugh>. I had to get like all of my community and volunteers, like I said, come over at my house. I had a b C sbs seven, nine, or 10 <laugh> out the front of my house. It was outta control. I've never experienced anything like that in my life other than when Angelina reached out and asked me to come to her movie premier to meet her and Brad, that's when I had to go underground cuz I had America like Vietnam, Russia, all of the media outlets like trying to track me down. It was, I didn't, I was at the point in the organization where I was like my, it was like banging on brick walls trying to get this out there and to put it on the agenda. And it was like Angelina came out and overnight it was one of the causes of the century. So, cause she put such a spotlight on it and you know, she's one of the most beautiful and famous women in the world. 

Matt Burgess (01:11:35):

It's amazing cause

Krystal Barter (01:11:36):

I, it was pretty incredible. I

Matt Burgess (01:11:37):

Don't know if she has, I mean, I, I guess she does now, but I don't know if she had any idea of how it would really change the world. You know, I guess it, it, it definitely changed everything about working in cancer genetics and mm-hmm. <Affirmative>, it, it's had a huge sort of impact. But you know, you've kind of just dropped the information that you met Angelina and Brad <laugh>, so obviously you have to tell us about that. Like, so how was it, what happened? What did you talk about?

Krystal Barter (01:12:09):

It was pretty, it was pretty amazing. Yeah. I got already and I got a private car come, came and picked me up at the hotel and I, they told me a little bit of information what to expect, but I really didn't expect what happened. Like it was, it was out of this world and it, it was at the same time I was talking to someone who had literally changed the face of brca. Yeah. And it was not just, she was Angelina a celebrity cuz I don't really get too excited with that side of it. It was that she had used her voice and her power to change the future for families like mine,

Matt Burgess (01:12:49):

Uhhuh <affirmative>.

Krystal Barter (01:12:51):

And you know, obviously I said, you know, I got a little bit flustered and I was like, ha, hi Angel <laugh>, my name's Crystal. And she said, you don't need to introduce yourself, I know exactly who you are. And in that moment I was like, well, <laugh> <laugh>.


 Well, and it just felt, I felt really proud that the work that we'd been, we'd been undertaking over here had made its way over there. Wow. You know, and to the one, the most famous BRCA mutation carrier in the world. That's amazing. And she knew who we are and what we did and my story and you know, obviously we talked about kids and things like that. And you know, she talked about her ovarian process and she hadn't gone through it at that time. So obviously I kept quiet on everything and she, she went out with this story in such a tangible way and wrote it in such her op-ed piece in such a way that it was educational uhhuh, that it was heartfelt. And for me, I, I still refer people to that op-ed piece cuz it was done so well and, you know, to have that moment where we literally had her, you know, she knew who I was and what I was doing. So that, that was a pretty powerful moment.

Matt Burgess (01:14:14):

Well done <laugh>. That's an incredible story. That's amazing.

Krystal Barter (01:14:20):

Yeah, it was absolutely incredible.

Matt Burgess (01:14:23):

<Laugh>. Excellent. So before I let you go, there was, sure one other thing that I, I just wanted to, to ask you about and it was what your involvement or what Pink Hope is doing for the Hereditary Breast and Ovarian Cancer Awareness Week.

Krystal Barter (01:14:39):

Yes. That's in America, right?

Matt Burgess (01:14:40):

Yeah, yeah,

Krystal Barter (01:14:41):

Yeah. So we work closely with all the different international organizations like Your Force, your Bright Pink, all of them. And I've now become friends with all the founders Uhhuh, which is really cool. And we regularly catch up the, the, the week hasn't really made its way to Australia to be honest, Uhhuh. And I would like to see more of it. But I'll actually be in America, which is good timing. So obviously we advocate, I'm actually gonna be in Canberra with all the senators and talking about key issues around risk and density and genetic testing. So I'm actually gonna be in Canberra, so that's probably where I can do the most. Good.

Matt Burgess (01:15:29):

Excellent. Well I wish you all the very best. Thank you. You've got a lot on your plate, you're a very busy lady. But yeah, thank you so much for taking the time to, to be on demystifying genetics today.

Krystal Barter (01:15:43):

Yeah, absolutely. And thank you for all your work. You know, you're not just a genetic counselor, like you're getting out there and really helping people. So yeah, really proud of the work you do as well. So congratulations and no doubt you're gonna be hearing all my kids in the background now. They're going crazy. We're going plant shopping now, so <laugh>.

Matt Burgess (01:16:04):

Oh good. Well excellent. Have fun and good luck. Thank you. And I'll talk to you later. Alright.

Krystal Barter (01:16:09):

Okay. Speak to you soon.

Matt Burgess (01:16:11):

Thanks. Bye

Krystal Barter (01:16:12):


Matt Burgess (01:16:13):

Excellent. So I'd just like to have a spend a moment saying thank you to my three guests today. So Ellen, Nicole and Crystal it was great having you on the podcast to talk about hereditary breast and ovarian cancer and the awareness week that is coming up now. As always I will put together a fact sheet and I'll have information about my Gene Council and about Pink Hope. And if you have any questions at all, please feel free to give me a call or send an email or to reach out via insight genomic au.