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June 10, 2020: We’ve all heard of direct to consumer genetic testing kits, from the like of 23andMe or ancestry.com, but how useful can certified genetic testing be? And how can genetic counselors assist you through that process? Today’s guest is Ellen Matloff, Founder and CEO of My Gene Counsel. Ellen am a certified genetic counselor, and My Gene Counsel is a company that specializes in scalable, updated, digital genetic counseling. My Gene Counsel’s mission is to make genetic test results easy to understand and use by both consumers and clinicians, and to provide ongoing updates tied to these results. In this episode, Ellen explains what genetic counseling is and why she formed My Gene Counsel. She shares with us the possibilities for genetics to advance healthcare and medicine, as well as the role that genetics may be playing in susceptibility during the COVID-19 pandemic. We discuss direct to consumer versus certified genetic testing, and the pros and cons of both, as well as the ethical issues around privacy. Ellen also describes her path towards becoming a CEO, which is a new element we’re adding to the show. Tune in today to find out more about genetic counseling!

Key Points From This Episode:

  • Ellen explains what genetic counseling is.
  • How a genetic counselor can assist you with genetic testing.
  • Why Ellen formed My Gene Counsel and what the company does.
  • Ellen explains the shortage of genetic counselors in the US.
  • The possibilities for genetics to advance healthcare and medicine within the next decade.
  • The role that genetics may be playing in susceptibility during the COVID-19 pandemic.
  • Geisinger as a leader in the field, using genetics on healthy people to predict illness.
  • Ellen talks about direct to consumer genetic testing and why it’s better to get certified testing.
  • Population screening for cancer by programs like All of Us (NIH).
  • The ethical issues with genetic privacy and why it’s important.
  • The pros and cons of direct to consumer genetic testing kits – not all data is helpful.
  • Ellen describes her path to becoming a CEO!
Transcript

This transcription is provided by artificial intelligence. We believe in technology but understand that even the most intelligent robots can sometimes get speech recognition wrong.

 Welcome to this week in Health It where we amplify great thinking to Propel Healthcare Forward. My name is Bill Russell Healthcare, CIO, coach and creator of this week in Health. It a set of podcast videos and collaboration events dedicated to developing the next generation of health leaders. Well, we have some, a special request here, the programming team at this weekend Health.

It would like to highlight solutions that deliver hard dollar savings to healthcare in under 12 months. This is in direct response to, uh, comments we're hearing on the show, as well as comments I'm hearing in my consulting practice. Uh, before you drop me an email, I. I need solutions that have successful client stories.

I receive about 10 emails a week from companies that wanna highlight their product on the show. And my first question is always put me in touch with a reference client. And, uh, amazingly about 90% of those requests fall away, which I find really interesting. Um, we wanna see what kinda response we get from you guys and then we will, uh, determine how we're going to.

You know, get this integrated into our programming and get it out there. So, uh, you know, send in your responses, bill at this week in health it.com. Love to hear from you. Love to hear what you guys are doing. That is showing hard dollar savings, uh, real money savings for healthcare. Uh, this episode and every episode since we started the C Ovid 19 series has been sponsored by Sirius Healthcare.

Uh, they reached out to me to see how we might partner during this time. . And that's how we've been able to produce daily shows. Uh, and you know, it's just a special thanks to Sirius for supporting the show's efforts during the crisis. Now onto today's show, this morning we're joined by Ellen Matt, law founder, and CEO of my gene council.

Good morning, Ellen, and welcome to the show. I. Good morning, bill. It's a pleasure to be here. You clearly have one of the best backgrounds, , not, not professional, but the backgrounds on the video that I've seen in a long time just reminds me of, of growing up in New England. It's looks like a beautiful house.

Beautiful. Beautiful area. You're right. We're in the Finger Lakes visiting my parents, so yes. Thank you. Oh, fantastic. Uh, well, thanks for coming on the show. I, I joked with you, we were talking, uh, the other day and I, I joked that there are some shows that should just be titled Educating Bill Russell. And this is one of those shows because, uh, you know, in these shows I feel.

Really uninformed on a topic, but the good news is I get to ask the general questions so that hopefully the community becomes more informed as I grow in my knowledge as well. So I, I appreciate you walking me through this. So let's, let's just start with the basics. What is genetic counseling? Genetic counseling is a profession that combines really science with, I would say education and a little bit of psychology.

And so we see patients for a variety of reasons. It could be a family, you know, maybe a couple who wants to have a baby. It could be someone who's pregnant and got a test back and learns that there may be something, an issue with the pregnancy. It could be someone with a child. Who has maybe a genetic syndrome or a genetic finding, like a cleft lipper palate.

It could be someone who has a personal or a family history of cancer and wants to see if it's hereditary. And the same can be true for hundreds of different findings, including, you know, cardiac disease or eye issues, or even which medications would work best for you. Those are all genetic testing issues that you could address with a certified genetic counselor.

So it's, it, it's almost like it, it's, it's someone who can look at the, uh, genetic testing that's been done. They're, they're sort of a translator for me because as a, as an individual, I'm not gonna be able to understand it. And even some physicians are not gonna understand it. And so a genetic counselor sort of steps into that gap and, uh, make sense of, of all that information.

Plus, I, I would assume there's just so much to keep track of. This is a, a field that is just continually evolving, isn't it? Absolutely, and in a perfect world, I would even say that the genetic counselor speaks to you before you have the test to explain to you the risks, the benefits, the limitations, and helps you pick the best test because there are so many tests.

Being done at so many different laboratories. And then as you mentioned, they see you on the backend, they explain the test results to you and help you really use those test results and help your physician use those test results to manage you and your family completely Well, great. So talk to us a little bit about my gene council.

Like why, why, why did you, uh, form the company and, and, and what does it do? I formed the company because I had been the director of the Cancer Genetic counseling program at Yale for many years, and so my job there was I would see patients who either had cancer themselves or they had a strong family history of cancer, and we would do genetic testing to see if there was something being passed down in the family in their DNA.

That was putting the family at high risk of cancer. And if so, there were things that we could do about it to change their risk of ever getting cancer, which was fantastic. And while I was working in the field, the field was getting bigger and bigger and bigger, and I was hiring more and more and more genetic counselors.

And then in 2013, Angelina Jolie came out and said that she was A-B-R-C-A one carrier, and overnight . Our referrals increased by 40%. And never returned to baseline. And we also had a Supreme Court ruling showing that you couldn't patent human genes. And so all of these events were just increasing the volume.

And I realized at one point that we could be doing things better, smarter, more efficiently if we combined technology. . With all of this genetic knowledge. And so I decided to put myself at that intersection and I left Yale to start my gene council. So is is there, are there not enough genetic counselors across the US to handle the, the, the load at this point?

I. Yes, that that's the problem. There are 330 million Americans and fewer than 5,000 genetic counselors who actually see patients that's in the us. We have by far more genetic counselors than any other country. I was speaking to a colleague in Europe at a meeting last year, and he was one of seven genetic counselors in his whole country.

So in many countries there are no genetic counselors, and even here in the US we have this po, these pockets of the country where there are no genetic counselors or even just two few genetic counselors, so that the wait times are very, very long. Yeah. It's, and when we were talking the other day at some, something sort of triggered in me and I realized it, it, it seems like the promise of genetics.

For health is really, it's the, uh, you know, the shortest distance between two points is a straight line and it seems like genetics. If, if, if we, if we utilize it well, we'll shorten the path to, you know, to better health and better health outcomes. Um, you know, talk a little bit bit more about, about the promise of genetics for health.

So the interesting thing about genetics is that it's now touching every single area of medicine. So I mentioned at the top of our interview that genetics has been used for a long time. If a couple wants to have a baby and they want to each have genetic testing to see if they might have a child, . With an autosomal recessive condition like cystic fibrosis, where each parent carries one copy of a mutation, but if both of them have a baby, there's a possibility that that child has a disease.

But there are also pregnancy tests for women. To let them know if their child is at increased risk for a genetic disease. Those are the basic ones we've known of for a long time, but the field is moving in a lot of exciting directions. So I talked about cancer genetics and cardio genetics. There's an entire area called pharmacogenetics that instead of just going to the drugstore and having your physician prescribe a medication.

That he hopes will help you with your very severe asthma or allergies, that in the near future you'll be able to take a genetic panel with a blood test or a saliva test to let you know which drugs will work for you and which drugs won't. There's also the genetics of infectious. Disease, which is a really hot topic right now because of course we're speaking during the coronavirus pandemic and there are genetics of so many different areas emerging that will really help us have more effective medicine within the next decade, not within our lifetime, within the next decade.

So has genetics played a role, uh, in the pandemic at this point? It's a great question and I think when you look at the news reports about who is getting, um, C Ovid 19 and who is not getting c Ovid 19, but also who is getting the disease and although they don't have the underlying risk. Factors that we talk about all the time, they're getting very ill or dying.

I think what we'll find is that there are some underlying genetic markers that make some people more susceptible to developing this virus and some people less susceptible. We saw this with the AIDS epidemic. I'm not sure that a lot of people realized it. There were some people who had a genetic mutation that made them almost immune from getting HIV.

And then other people would get HIV and it would progress to AIDS more quickly. I think it's possible that we'll see that here. . Wow. All right. So we have, um, we, we clearly established there's a market for genetic counseling. There's, there's not enough people. I, I'm, I'm reminded of the, the program, Geisinger talked about this at the last two JP Morgan conferences and then John Kravitz, the CIO for Geisinger was on.

And he also talked about the fact that they have, uh, really expanded their genetic testing. Uh, in their primary care practice. So they're, they're, they're doing a lot of genetic testing. Uh, talk about these types of programs because I, I know that Geisinger is one of the, they're usually out in the forefront of this kind of stuff, but there's others that are starting to do this as well.

You're right. Geisinger has been a leader in the field of population genetics for a long time. So rather than waiting for people to have a family member who develops ovarian cancer, and then that kicks off genetic testing, they've been offering a panel of genes. Through their primary care practice to healthy people, and one of their mantras is, um, I think it's called cradle to grave, that they really care for patients throughout their lifetime and so they think it makes sense to offer them genetic testing.

To find out what they're at increased risk for and to follow them appropriately. So instead of saying to every person, you need your first colonoscopy at age 45, the genetic testing may show that some people need their first colonoscopy at age 12, believe it or not, and that maybe some people don't need their first colonoscopy till 50 or 55.

And so Geisinger has really been a champion of using genetics in this way to really wrap it around the family and their care. Interesting. Um, it'll be interesting to see, I mean, 'cause we, uh, you know, there, there are other, I. Uh, organizations that have talked about this, I don't know where they are. I know that, uh, Providence has, has talked about this.

I know that Intermountain has as well. It would be interesting to see how that grows, but to, just to change the, the topic a little bit. You know, there's these direct to consumer genetic tests that are out there that range anything from, you know, like a. 23 and me kind of thing. I mean, help us to understand the difference, uh, in the, the different kinds of tests.

Tests that can be done from a, from a direct to consumer standpoint. And then there's also some, uh, I, I don't know if the word's controversy, but there's some, uh, reticence to really put this kind of information in the hands of the public. So talk about that a little bit. Yeah, I'd love to. 23 and Me was really the first company that now, 15 years ago, started selling these genetic test kits that you could order online.

They would send it to your house, you would spit in a tube and send it back to them without the involvement of a physician at all. And so you could do your own genetic testing. I can remember when this started. It was a really big deal. It was fairly controversial and it started by looking for things that we would classify more like genu.

Things like, can you taste cilantro or do you have sticky ear wax? Things that were interesting about your genetics, but probably weren't gonna change your medical care. And then over time they started adding in things that. Actually were very important to your medical care. So when I was at Yale, I would have patients come in who learned that they carried A-B-R-C-A one mutation standing for breast cancer, one from a 23 and me kit.

They would present that way. And so there, then it became the mix of genu and real medical care. Um, and we as genetic counselors, counselors were left to figure out, is this legit? Do we need to repeat it? And the answer was that we would get a new DNA sample and repeat the test. But oftentimes they were right.

The patient did have A-B-R-C-A one finding. And then ancestry.com of course has been a huge boon over the years and they were doing ancestry, but now have started folding in some medical genetics testing as well. So you have that on one end. And then on the other hand, you have medical grade companies like Invitae, um, that are

Reaching out to consumers, and you can have genetic testing through Invitae now through a direct to consumer play. So there's a lot of confusion. There are a lot of things here in the middle, and I would argue that that's one of the reasons that if you want medical genetics information that you could use and that would impact your family.

Really important to speak to a certified genetic counselor so that you're getting the right test for the right condition at the right time. Interesting. Um, alright, so the, there's probably just a handful of topics I want to touch on to, to close this out. I, I definitely wanna talk about privacy 'cause that's an important topic.

I also wanna talk about your path to becoming ACEO of a company. I get, I get asked all the time. Uh, to add that question to the end of my interviews with executives because, uh, a lot of our listeners are wondering, how do I get there? So I'm gonna, I'm gonna close with that. Um, but you, you brought up, uh, uh, BRCA one and, and B-R-C-B-B-R-C-A two.

Um, obviously with Angelina Jolie and that whole thing, there's, there's, uh, there's a lot more. Uh, just, uh, awareness of what genetic testing is and what it can, uh, show, uh, what, you know, what's the, what is what, how is the industry really looking at population screening for things like BRCA one and two. So there are places like Geisinger that are offering testing, and there's a large initiative that a lot of people don't know about here in the United States called All of Us, and it's offered by the NIH.

They're offering to test 1 million citizens. And they would really like to focus on ethnically diverse groups that are often ignored in traditional research studies. But anyone can sign up for it. You can go to the NIH and it's the All of Us program. Um, there are also many countries that are offering genetic testing,

But I would say they're not all created equal. Not everyone is offering the same kind of testing, and they're not all returning all the results. And so it takes some research to really find out what's being offered and what you'll get back from it because you may not get back the information. You're,

um. Let's talk about privacy a little bit. So, you know, my genetics are the same as my family's, uh, well, yeah, my, my children and whatnot. So there is sort of a, um, my information isn't just my information. It's, it's my children's information. Um, what, what kind of information should be made available potentially to every family member if I get a test should be made, made available to the medical record for every family member.

Uh, let, let's start there actually. I think it's a very complicated question because not every family member may want that information. They may not want it in their medical record. Depending on their job, they may or may not have protection from genetic discrimination. It could affect their life insurance options.

And so having one person get genetic testing and then say, okay, I want all of you to have it. You know, not everybody wants it. And one thing we really need to protect against is making sure that individuals have autonomy and can make their own decisions about what testing to have. Interesting. So I also have to be worried about that information getting hacked.

So let's assume my brother's running for Senate. Somebody hacks my medical record, gets into my genetics. They would, in theory know a bunch about my brother as well, wouldn't they? They potentially could keep in mind that you and your brother don't share all of the same genetic information. You share roughly 50% of the same, but false assumptions could be made.

And I think the biggest education for me in terms of genetic privacy, I. You may remember a few years ago, the Golden State Killer was, um, a cold case here in the United States 30 years ago. This man had committed both rapes and murders and left DNA samples at the crime scenes. They'd been stuck in an envelope and had been sitting for.

30 years before someone new took over that department and he sequenced those DNA samples and uploaded them to a publicly available site who the, the reason for the site was to help adopted children find their birth families, and by doing that under an alias. He, um, was able to track down all of the relatives of the Golden State Killer and then trace that killer back through the branches of his family history because all of his relatives had done 23 and mere ancestry.com.

And so in terms of genetic privacy, that was the moment I realized that genetic privacy, in many ways is a thing of the past. Because all of us have a family member in one of those databases at this point. Well, I, I, is there a case to be made for some of that information to be made available for public, for, for testing and, and for the good of, of society, I guess?

I think there's a case to be made for that, and I think there's also a case to be made against that. There are a lot of ethical issues, as I mentioned, that have, that could affect employment insurance. And there are even some people who say, if I'm at high risk for this condition, I don't wanna know about it.

So we, it's, it's very complicated. Well, one of the things that comes up as you're talking about this is, is , is the law struggling to keep up with the advancements that are going on in genetic testing? I. Oh, the law isn't just struggling to keep up. I mean, it's clamoring to keep up. When 23 and Me came out with this test, there was no regulation around this, no regulation about having these large databases that connect all of these family members.

I'm sure you've seen some of the stories that there was one kid who bought his parents 23 and Me kits for Christmas and he said, I bought my parents 23 and me kits for Christmas, and they gave me a divorce. Because they learned when they did the kit kits that there was an extra child in their family tree.

The husband had had an affair years before and he showed up in the 23 and ME kits. So I guess that what I would say is that before we enter into this, we need to think about all of the kinds of data that can be unveiled. It's not all helpful data. It's not all wanted data. For some families, it's a blessing.

They're like, we were able to reunite with a brother we never knew we had, but imagine what that can do to a family. There are pros and cons. Wow. Uh, this, this has been a great podcast. I, I appreciate you educating me on this stuff. Uh, talk about your path to becoming ACEO of a company. I mean, it's, it's, uh, not common for, uh, females to be CEOs of, uh, tech startups, especially health tech startups.

Uh, and, you know, you, you've gotten to that path, so talk about how you got there and, uh, you know, potentially what, what are some of the challenges to getting there? Yeah, so the path, this is not something I ever thought I would do. It's not something I aspired to and said Someday I'll spin out my own company.

It happened when I saw the opportunity in the field from my position at Yale, and for a year and a half while at Yale, I worked with one of their departments that helps faculty members who have a novel idea and wanna start a company, um, so that I could follow all the rules. Although this sounds really boring, I got a babysitter every Saturday night and went to Starbucks and spent four months, four hours a week writing a business plan.

I secured a mentor that was really important, a mentor who was ACEO of another company. And he gave me a lot of help. Um, and I eventually got an angel who was willing to fund the company to get us started out of the gate. And I read a lot of things and became ACEO, and I think being ACEO, one of my mentors says it's the most overrated job in the world because you know, you get to do everything.

There are pros of that and there are cons of that, and you learn a lot around along the way. And I will say starting a startup in Connecticut, which is not California, it's not Boston. Um, in genetics and tech has been challenging. And being a fe female, CEO has been an added layer on top of that, because I don't have the networks of people who I went to Harvard Business School with, and I.

Just an easy path to funding. It's been a challenging to really, a challenge to prove myself and to hang in there every single day. And I would say to anyone thinking about becoming ACEO, take your time to think out your business plan ahead of time and speak to mentors. That's so important. And also ask yourself how tenacious you are.

Because however long you think it's gonna take, multiply that by about five or 10, it takes longer. Yeah. I, those are great words. Uh, mentor, I, I also, I love the fact that while you were doing your job, you carved off some time, uh, you know, dedicated time over and above the, the regular work week to really work on developing a plan.

I find so many people give me a call and say, I've got this idea. And I'm like, all right. You know, work on it, you know, and, and I never re, you know, send me something and they, I never received the follow up. I never received the, the business plan or anything, um, as a result of it. And, but that's what it takes.

It takes that dedicated, focused time. It takes running it through with other people who are gonna. From time to time, shoot holes in the things you're putting out there. Absolutely. You want the holes? Yeah, you want the holes. It's still hard, right? You're Oh, definitely. Um, but yeah, it's, it, I mean, it is, it is a path and it, it, it takes some hard work.

Ellen, thanks for, for stopping by and I really appreciate this is, this is really exciting stuff. I'd like to, uh, follow up with you, um, you know, maybe, maybe in the fall and, and hear how things are progressing. Oh, I'd love that. Bill. Thanks for having me. Thank you. That's all for this week. Special thanks to our sponsors, VMware Starbridge Advisors, Galen Healthcare Health lyrics, Sirius Healthcare and Pro Talent Advisors for choosing to invest in developing the next generation of health leaders.

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