Once again, we’re excited to bring you the Emerging Tech Roundup, a new podcast series launched in partnership with Boston-based Blue Hill Research.
Each month, my co-host James Haight and I will be joined by industry experts and thought leaders shaping the future of business through emerging technology (see our last episode here). We’ll discuss where technology is headed and how it impacts businesses today, covering topics from 3D printing and artificial intelligence to biometrics, next generation security, predictive analytics, and more.
In this episode, Invitae President and COO Sean George discusses the impact of affordable genetic testing on the future of healthcare.
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This Episode’s Guest
“This has always been pointed to as way off in the future — babies will get sequenced at birth and this information can be used to improve outcomes and lower costs of healthcare. Well, I’ll tell you this is going to start happening soon, certainly within the next couple of years. Today, the preliminary pilots are happening. Companies are doing this. ”
— Sean George, President and Chief Operating Officer, Invitae
In This Episode
James: Ladies and gentlemen welcome back to the podcast. Today we have a great episode for you. We have the co-founder, president, and Chief Operating Officer of Invitae. We have Sean George with us today. Sean, can you give us an introduction and tell us about yourself?
Sean: I’m Sean George, one of the co-founders of Invitae and currently the President and Chief Operating Officer. A long ways back I got my PhD in molecular genetics but have been spending mostly the last many years in the biotech diagnostic and tool space. About five years ago, we started the Invitae story with the idea of bringing some of the newer technology developments in genetics to enable genetics to be able genetics to become part of mainstream medical care for pretty much anybody in developed healthcare systems. So we really are ambitiously targeting more than a billion people on the planet.
Kyle: Can you give us a little bit more background into the company in terms of what you guys do on a daily basis and the specialty and everything that applies to the company?
Sean: Absolutely, so in the world of diagnostics there is a segment known as clinical genetics. Typically, clinicians run these genetic tests when somebody presents with symptoms that could possibly be caused by an inherited disorder. There are quite literally thousands of these genetic disorders. It really is a really long tail type of an industry.
Things as common as cancer, cardiovascular disorders, neurological disorders, pediatric disorders, etc. but then also thousands and thousands of unique and special and in many cases very rare disorders. Now, historically, largely because access to this genetic information has been so expensive, this industry has been pretty fragmented in the approach.
So typically labs, clinics specialize in one of these disease areas. About ten years ago, it’s really been a process of over the last 20. But it really started picking up speed about ten years ago. This technology has been developed called next generation sequencing.
And as this technology started coming on the scene, those of us in the space noted that the cost per human genome sequencing base was dropping far in advance of Moore’s law. Which of course, I think a lot of you audience is familiar with, and I think you know many years ago it became clear to some of us that this would have profound implications on a lot of areas of healthcare.
In particular when we were thinking about what we are doing now we particularly thought of genetic testing. Genetic testing while historically it’s been this fragmented, expensive costly approach. With this technology shock it is now rapidly turning into a low cost information play and that is really where we got the idea to use this technology. Instead of thousands of disorders spread around hundred and hundreds of clinics each with their own specialty. Why don’t we build a production line that’s capable of generating all of that information?
You deploy kind of a up-to-date software engineering [inaudible 00:05:10] mathematics pipeline tools to analyze and get that information in the hand of our clinicians and deliver the clinical report at prices that I think even two years were unimaginable. So we’ve been kind of seeking to add to our test menu and lower the cost and really make the testing more accessible for all.
James: Yeah, that’s really interesting. Certainly, we get the idea of what lower prices might mean. What are some of the other barriers you guys are breaking down? It seems like you’re making access to diagnosis and treatments much more accessible to a broader base of people. I’m curious what does that mean? What are the limitations right now that the rest of the medical community can benefit from this?
Sean: That’s a great question.
Something interesting to note up to 10% of the population is directly affected by an inherited genetic disorder. Whereas if you look today, far less than 1% actually gets tested. And it really is for a lack of access, and we believe that the primary driver for that access is prices.
The inherent cost of these tests and the way, certainly in our country, anywhere, you know when resources are scarce and the cost of the tests are very high there is an awful lot of allocation going on. A lot of triage and selection of which tests are run for whom to maximize the utility and the yield of the tests.
So this is why we really believe this technology shock will have such a profound impact is simply by these costs declining so rapidly will undoubtedly increase the accessibility. Now the other reason to note it’s particular in healthcare, it’s a little bit different than a lot tech industries. There’s a regulatory element that’s involved. You have to do this in a certain way under federal regulatory and of course community standards of how you run this testing and deliver results.
The other thing is just making this broadly accessible to all is actually a tricky proposition. So for your average individual their genomic information may or may not mean anything for their healthcare today. But like I said for a non-insignificant portion of the population it is actually the major impact of their healthcare of their health outcome. That information is typically it’s very…it’s never completely black or white or deterministic. It’s typically a probabilistic answer and it typically has pretty profound ramifications for that individual and the family.
So one of the issues is, while we believe price is a big portion of it, the information needs to be delivered. We feel the right way is to have that information handled by and individual’s care providers. Whether it be their clinician, whether it be a genetics specialist, genetics counselor or whatnot. Because of the nature of the results, it really does involve this medical approach for the care of the patient receiving the answers.
Which of course when on the one hand the prices are coming down and the accessibility is driving up so quickly, it’s a good thing. On the other, it does stress the system just by sheer number of medical professionals that are up and current on genetics, comfortable with torrents of data that are coming out of these next generation sequencing platforms. Really it presents a great opportunity for us to be one of the companies that is involved not only in generating that data at unimaginable prices but also interpreting it and delivering it in a way that medical professionals can incorporate into the course of care for their patients.
Kyle: So you’re creating the experience a little bit differently than a mailing kit. Is that what I’m hearing?
Sean: That’s right.
Kyle: Am I thinking about it the right way? So if I mail something in and I get something in the mail back and I have no idea what it’s telling me other than a certain thing, you’re actually having the medical professional giving that information instead of sending something to the actual consumer. Am I following that?
Sean: That’s exactly right. So our customer is the patient and their caregivers and they’re multiple ones in combination. Again, this information tends to be fairly serious and the actions that are taken after the information, can be quite serious, or leads to something less serious as simple as monitoring or a follow up. Again, it’s rarely so black and white that you can just send in a sample and we can send you an email telling you what to do. We’re just not there yet.
In the distant future, as more and more data is accumulated and as more people share that data, which of course, we do we share all the clinical information with the publicly with the hopes that people can really accelerate research on this data. In the future, we think that this will become more and more clear but right now it’s very much a clinical game of probabilities based on any information that exists in a person’s genome.
James: Yeah. One of things that pops to mind. Do you think maybe in the future there are some new jobs that might open up or this sort of a liaison that helps the common person understand their genetic results, or how do you see that playing out?
Sean: I think many people in the industry think that something exactly like that will happen. Today there is a group of individuals known as genetic counselors. They typically have a master’s degree in one of the biological sciences typically genetics and then spend a lot of time on the counseling side, you know, a lot of training on talking probabilities with people, talking about risks with people in families and what it means. There’s about 3,000 or 4,000 of these individuals today. If you just think about the numbers about 10% of the population has one of these disorders. Most look at that situation and think there’s going to be high and growing demand for those types of individuals over time.
I think that’s a good example of where it’s a pretty exciting time how quickly things are changing. You really do start getting into conversations about how the whole medical team will change as a result of this to information play instead of a lab testing play.
Kyle: Yeah, so I mean in terms of…we opened up the box a little bit when we are talking about like the future, right? So can we look even further than ten or 20 years out? Where do you think where are we going with all of this in a perfect world?
Sean: This is the thing. From our vantage point I think most people in this industry over many years have seen this technology group developing have thought about the concept of one day babies will get sequenced at birth, then their genomic information will be managed for them, will help inform decisions either directly at birth if there’s anything wrong or throughout childhood if there’s a developmental delay early in childhood or typically a lot of these syndromes show up around puberty. Then even later in life for cancer, cardiovascular, and neurological disorders.
So this has always been pointed to as way off in the future — babies will get sequenced at birth and this information can be used to improve outcomes and lower costs of healthcare. Well, I’ll tell you this is going to start happening soon, certainly within the next couple of years. Today, the preliminary pilots are happening. Companies are doing this.
Babies will be getting sequenced at birth and that information will be managed for them with their providers. By all accounts all the data today will point to that greatly reducing the costs and improving outcomes for a lot of these disorders.
I think it’s a good example of something that even a couple years ago people would have thought was basically science fiction, ten years away.
Because of this technology shock, this is happening quickly and that’s the thing. Again, I think if you’re in the industry you can kind of see how you can do that in a medically responsible way. [inaudible 00:13:50]. That is the pipeline we are building, is the ability to manage that amount of information on behalf of an individual with their caregivers.
If you can see that happening, it makes a lot of sense. On the other hand, just hearing that I think shocks a lot of people. And then of course, all the other implications and applications start to come into play. You know there’s a popular perception in genetics and all the harm that can be done by it. Which then people start thinking about it and I think it will become a conversation in the near future.
With that said, I spent a lot of time with families that have genetic disorders either directly affecting them or their children and that day can’t come soon enough for them. That’s a really exciting part about what we’re doing is really taking and harnessing that technology and bringing it to a very real and present event.
James: I’m going to call this the “Gattaca question,” of course. As we understand our own genetic makeup and we can make better decisions based off of data what do you see that. How do you see that shaping the future especially with the Gattaca movie in mind of course?
Sean: Right, so I think the first thing to point out is that a much larger percent of the population is directly affected by an inherited genetic disorder and are currently being tested for it. Those people often spend a lot of time bouncing around getting different diagnosis for different diseases. Running multiple tests over multiple years trying to figure out generally what’s going on. These things range from the quite severe to the mildly annoying but still impactful.
I mean the first component to that question is getting that information directly to those people who can directly use it worthwhile. I think again, if you spent any time with any of those people, you would come to the of yes that is. Then in a world again, everybody is [inaudible 00:18:53] birth. This information can be used to help those people and to help generally population healthcare. Then these questions do come up what about the Gattaca problem and I think this is where really it takes an in-depth understanding of genetics to realize that on balance the information that could be used for ill.
Yes, I suppose you could imagine people doing that, but on balance the information that can be used too really help people, help families, and healthcare is almost unbounded. It really is. The amount of information that we are currently not using to affect these things is astonishing. There are already laws in the states. There’s a law called GINA. It’s an abbreviation. Genetics Information Nondiscrimination Act. There are laws for example preventing employers from acting on employees based on genetic information. Laws in the ACA of course whether you have a genetic condition or not, you can still get coverage insurance. So a lot of the things that people were going to worry about in the past are starting to…society is starting to tackle those one by one.
The idea of evil masterminds breeding races of people with genetics, whole groups of people being segmented out based on their genetics and capabilities — I think that’s where you are still very much in the realm of science fiction.
Yes, there are genetic components to a lot of things that people get interested and concerned about heights, weights, intelligence, this that or the other. But it’s also so far more complicated than anybody can actually use in any kind of practical way to whatever nefarious ends that they might have in mind. I think if you know enough about genetics it’s far less of a concern than a benefit it can bring. Nonetheless, how quickly this is happening is bringing up these concerns and it’s a great conversation and it will be an ongoing conversation.
James: Yeah, and you know to be fair we…our last episode we interviewed Kris Hammond from Narrative Science and they’re leading the way in terms of AI. We asked them if they were creating Skynet so.
Kyle: We have a Hollywood theme basically…
Sean: You know what’s funny is like every good Hollywood movie and every good future technology panel, the answer is the same as every other technology, right? These incredible scaling technologies, yes, there’s always a way you can use them for bad and evil. Then again, I think when you spend time with these patients and you understand just how much it affects their lives but for a lack of just a little bit of information it could help them. You know those things fall away pretty quickly in the list of concerns.
James: Definitely a fair point. So one of the things I would be curious about…so we talked about why this is so exciting, the scope of people this could potentially help, and of course we hinted at it with things that can be built upon it. How is business going to be disrupted? What new channels are there going to be? I’m sure you guys have spent a lot of time thinking how the world might shift to adapt to this new reality.
Sean: And again this is going to take awhile from a business perspective we are really focused now on the current medical genetic testing that goes on. Historically it’s been very high prices very long turnaround times very low service levels. Again each of these disorders is so rare there’s not really an industrial setup in place to generate this data and interpret it, to deliver it to the clinicians and their patients. So the first thing we’re focusing on is to be able to do that much, much better, much, much faster ,and much, much cheaper than it is done today. And I think that will disrupt the testing industry, but I think in terms of society I don’t think it’s going to really disrupt society that much.
The current people that are sick with these disorders now will be able to get tested and that’s a great benefit to them and a great benefit to society in and of itself. I think when you start thinking about in the future again when babies are getting sequenced at birth or whole families are signing up together to understand diseases that are running in their family. As more and more of this very, very deep high quality sequence data is generated as it’s aggregated as it’s put together and publicly shared. Then more and more of this information becomes more and more useful.
Then in the future, moving away from the very severe high risk genetic variation. With more data people will start understanding some the lower immediate risk impact of genetic variation. Even some of the things that are just maybe mild factors of day to day life like things that impact your dietary choices your exercise choices and whatnot. It’s worth pointing out the other key point in this conversation around both the Gattaca effect and the future as it were. We definitely from day one and we will continue [inaudible] listened to by the patient and we will only share and distribute and otherwise use that information on the patients’ behalf with their consent preferences.
And this is something that we think is very important in this particular conversation. As this exciting world develops, if it develops with this information being used without the direct patient’s involvement we think that sets the stage for much more misuse vs. benefit of the patient. Thus we really are dedicated to that where the patient owns and controls their own genetic information.
Kyle: Yeah, definitely. Is there anything we haven’t thought of yet or talked about yet when it comes to the future? The idea of it is mind boggling for me mainly because I’m not in the industry. Is there anything else that we are missing that we should be discussing when it comes to the future of this technology or even the whole industry in general?
Sean: Sure, I think there’s a few things are head scratchers when you think about how is that going to impact things. So one is the entire bio pharmaceutical industry. You do begin to wonder when…there is this kind of subset of genetics pharmaco genetics. Basically in born variations in a lot of the gene pathways that effect how you metabolize and react to pharmaceuticals drugs and treatments.
That information has not been widely used in the entire of the biopharmaceutical industry. When it does and you find out that certain people just don’t react to certain drugs or certain people will react very poorly to some drugs. Whereas it will greatly benefit other people, you can see and I guess the dream is you can see a day where based on that information the right drug can be delivered to the right person and the right dose.
And perhaps increase the efficacy and lower the side effects, target specific populations. Certainly in any of these rare disorders in these families, because development of these drugs using genetic information or genetic profiling is something that I think a lot of people see coming but I’m not sure everybody grasps the ramification of how that will impact how a drug will be developed, purchased, distributed, etc.
Another one to just think about is how society will react…and again this is off in the future but if you take today’s…I’ll tell you some examples from today and then we can extrapolate. There a non-insignificant percent of the population that’s at very high risk for clotting disorder or much risk for clotting disorders of the blood. In fact people with those particularly women with those choice of birth control becomes a very serious issue. Certain types of hormone treatments are actually kind of contraindicated with a certain kind of genetic profile and are at a much higher risk for clots and strokes and whatnot.
That is true today that information is not widely out there today but it is true today and it leads one to think how that’s going to play out when that information starts becoming basically free and people start getting access to it how does that affect that whole portion of healthcare and personal health. And then another example maybe is hypercholesterolemia. This is a rare genetic disorder but actually affects a big chunk of the population. And these are people not matter what they do by way of diet or exercise they are always going to have cholesterol problems. Those two examples if you think ten or 20 years later maybe there will be 100s of those examples.
It does poise an interesting question to society as a whole. How will we together take knowing that everybody or many people have some kind of variation that is going to fundamentally affect their healthcare outcomes through no fault of their own?
They were born with this. This nothing that they can do anything about. And as more and more of this gets known, I think it will be an interesting conversation to see how people will think of that by way of healthcare or nationalize or privatized or how much a patient pays out of pocket versus what the taxpayers base will pay or cover. I think that’s another conversation that people aren’t quite ready for given how fast this information is developing and how much more of it’s going to come sooner than people think.
James: Certainly. You raise up a lot of good topics. Each one of those could probably be its own show in itself. One of the other things too that I think you brought up that is a really good point. Is this idea of personalizing medicine, right? So a lot of time diagnosis or at least from the outside, how we perceive it, this dose tends to work for most people and so therefore everyone is going to get that and some people will be completely unaffected by it or perhaps adversely affected by it. I think now there’s real opportunity to only give it to people who would actually benefit from it. Maybe try something else on people who won’t. I think that’s a really important point that I’m hoping for soon.
Sean: Yeah, definitely. Yeah. That’s right and I think this is more of a question of general interest right now but the world of gene therapy is kind of in its…depending on how you look at it, I would argue that it’s in its third renaissance. In the 70s it was attempted. Either there was some promise but overall it didn’t work and there was another phase in the 90s. Now, there’s another crop of companies at least I would say maybe half-dozen or maybe even a dozen gene therapy companies that are now getting funded showing promising clinical trials.
That’s another interesting thing when you think about the future of genetics and individualized and personalized medicine. As more and more of this information is known, what variants cause what diseases, and if, and it is a big if at this point. If some of the newer strategies and approaches for gene therapy work, that’s another area that just has you scratching your head and thinking wow. How is this going to play out? How is this going to work? It could be pretty interesting.
Kyle: Yeah, definitely. So we really appreciate you joining us. Is there anything any upcoming announcements that we should know? Anything you just want to throw out there for the audience?
Sean: Like I mentioned, right now we are very much in a heads down phase of really focusing on the current testing industry, trying to lower the costs and expand our menu and increase accessibility. So for Invitae it’s pretty simple for everybody who follows us and certainly our investors. We recently just took the company public in February and we just really made sure everyone focused on that fact. You should see us. We will continue over the next few years to announce decreases in pricing across this test menu. Also you should see us announce more and more tests.
Like I said, there are 3,000 or new genetic disorders. In the coming years we intend to add 500 more genes by the end of this year 1,000 genes for under $1,000 next year and beyond. Like I said, no big shocking announcements but just a very steady decrease of the cost and an increase of the menu to really execute what we think is a pretty exciting play in the newly disruptive field of medical genetics.
James: Yeah, and so that’s absolutely something I’m going to be looking out for.
Kyle: Me too.
James: So in terms of our audience let’s say they want to learn a little bit more, where should they go? We’re going to be posting the transcript up on our website and make that available to everyone. If we want to learn a little bit more about you and Invitae, where should we go? What should we do?
Sean: Sure, you can always go to invitae.com. There’s a lot of information about what we do. You can kind of see the tests we offer and there’s a fair amount of information and some really good links. If you want to know, there’s great information on our own website about what you can do. There’s also a family history tool that we’ve put out in the world. There’s an iOS version enabled and a browser enabled version. It’s mostly used by genetic counselors and medical geneticists today. We are in the process of developing one that our clinicians can put in the hands of their patients and have them fill out.
It’s a fun thing if you’re interested in playing around. It’s a free download. You can download it using your iPad or any browser. That’s one way to really look at how genetics works and how genetic counselors and how medical geneticists look at genetic risk and testing. I would also recommend for the more technically inclined or if you really want to the NCBI has a website that’s called genetic testing registry, NCBI GTR, or just search for genetic testing registry and you will get it. There’s a lot of quick links that leads to more and deeper technical information. You will see clinical resources, information for genetic professionals, and then if you want to explore some of these genetic conditions, they are called gene reviews. You can look them up and learn a lot more.
Anybody I point in that direction typically comes back to me surprised that just how many of these things there are. Typically also, by the way, it really jogs people’s memories. I think most people don’t realize after looking at that site, looking at some of the disease, I think a lot of people start to realize oh, yeah, I had cousin so and so, or aunt X, or oh yeah, my brother-in-law had this. People are surprised how prevalent these genetic disorders are. It’s just there are so many of them. That long tail effect really prevents any one of them coming to the forefront of anybody’s mind. I would definitely look at those three resources. Invitae.com take a look at our family history tool, take a look at the genetic testing registry, and that will give you plenty of reading and links out from there.
James: Excellent. Well, Sean, I just wanted to say hey, thank so much for coming on the show. I know I certainly learned a lot of things and I really appreciate you taking the time.
Kyle: Yeah, definitely thank you so much.
Sean: All right, great. It’s been a pleasure. Thanks.