This week, Dr. Jill Hagenkord visits the Weekly Dose Podcast to discuss genomics -- is it finally ready to fulfill its promise?
It's been more than 20 years since scientists completed the first draft of the human genome. Decoding the human genetic blueprint held so much promise that it was even lauded by President Clinton. Yet, genomics has yielded surprisingly little by way of health care innovation -- until now? Dr. Jill Hagenkord of Optum Genomics joins Weekly Dose Podcast host Ira Apfel to discuss a potential new advancement in the field of genomics.
SPEAKERS
Ira Apfel, Jill Hagenkord
Ira Apfel00:05
Hello and welcome to UnitedHealth Group’s Weekly Dose Podcast, we'll get you up to speed on the latest trends, shaping the future of healthcare. And don't forget, the podcast is now available on Apple podcasts and Spotify. So be sure to subscribe so you never miss an episode. Now on to the show. On June 26 2000, scientists completed the first draft of the human genome. And as a result, scientists had decoded the complete genetic blueprint for building a human being. At the time, President Bill Clinton said the chairman would, quote, revolutionize the diagnosis, prevention and treatment of most, if not all, human diseases, unquote. Yet, over 20 years later, there are fewer genomic tests available for routine medical use. What is holding up the genetic revolution? Here to discuss genomics and its future is Dr. Jill Hagenkord. She is the Chief Medical Officer of Optum Genomics. Dr. Hagenkord, welcome to the podcast.
Jill Hagenkord01:07
Hi, thanks so much for having me.
Ira Apfel01:09
So, first question, what is genetic sequencing? And why are people so excited about it?
Jill Hagenkord01:15
Well, the ability to sequence the genome, lets us look at the blueprint for the genome or the kind of the instruction manual for how you make a human being. And it's important to understand the correct instructions. You ever bought furniture at IKEA, we have there and read the instructions, right? Sometimes there can be a missing word in the instructions or an errand instructions, and you can still put that table together. Other times that word is like so significant to the meaning of the sentence that you, you can no longer put the table together. And that's the same analogy works with changes in DNA. So when we are able to sequence the DNA, we can actually look at, at the instruction manual for how you make a human being. And if we compare, you know, a patient's instruction manual to the quote unquote, correct instruction manual, we can see where there are differences. And if those differences are significant enough to break a certain function of a certain cell or organ. And that lets us better understand the cause of human diseases as well as gives us the ability to develop drugs that could treat that particular disease or even now with gene editing, the ability to go in and correct the error and the instruction manual.
Ira Apfel02:37
Then That, of course, leads me to my next question, which was how does gene sequencing fit with gene therapies? And Gene editing? You answered it a little bit at the end. But could you go into a little bit more?
Jill Hagenkord02:48
Yeah, sure, we can for certain diseases, right, if they're if they're caused by a, an error in the instruction manual. And now with the ability to sequence the human genome, we can actually go find where that error is. There's therapies there certain drugs that can be developed, and several of them are already in the market. Now. In particularly like there's one for cystic fibrosis, which is a disease that a lot of people have heard of. It's where there's a mistake in a gene called CFTR. And it makes it so that the cell doesn't pump like chlorine, chloride and sodium, the way that it's supposed to, and that's why you get these mucousy buildups in their lungs and in their GI tract and pancreas are the classic phenotypes of cystic fibrosis. But now we can actually go look at the instruction manual and the DNA of the person with cystic fibrosis, and see what error is, is in the instructions for making that CFTR gene. And if it's a particular kind of error, that is making the channel stay closed, we can actually, you know, make a drug that holds it open. And, you know, thereby we're actually treating the cause of the disease rather than historically, we've always treated the symptoms of cystic fibrosis. This allows us to actually get down to where exactly the problem is in the cellular machinery and fix it. Alternatively, there's other approaches that are being explored right now that are very exciting. With certain technologies, you can actually go in and using kind of molecular machinery fix the instruction itself, right. So now it's going to make the protein that holds that gate open when it's supposed to hold that gate open. So both are really exciting possibilities made possible by our ability to sequence the human genome.
Ira Apfel04:41
How is all this genomics different from well-known commercial DNA testing like 23andme?
Jill Hagenkord04:49
Ah, great question. Um, 23andme uses an older technology underlying their tests that they provide or the reports that they provide. And it is not the kind of platform it doesn't do a whole genome; it just looks at spots within the genome. And it's not appropriate for answering clinical questions, right. So if you want to know, you know, I think my patient might have a hereditary heart disease cardiomyopathy, let's say, you would want to have a test that went and looked at every single base pair in all of the genes that could cause cardiomyopathy. So that's how we would design a clinical test. In a platform like 23andme, they could give you maybe one or two of the 100,000 base pairs that you wanted to look at. Right? So you would, if you got a negative test, it was probably because you didn't look at all the possible base pairs, all the possible ways that those jeans could have been broken. And it's okay. I mean, 23andme wasn't really designed to answer clinical questions. It was designed to engage people to help people start to think about their genetics to drive family conversations about health. And to get, you know, people to get engaged and answer more questions about themselves that they combine that personal information with the genotype information, and it actually accelerates drug discovery.
Ira Apfel06:19
Now, you've done a really great job kind of explaining what genetic sequencing is, and why it's so promising. But that begs the question, why hasn't genomics had much of an impact on healthcare yet? It's been around for 20 years?
Jill Hagenkord06:33
Yeah, that's true. They we finished the first, you know, edition of the human genome was released about 20 years ago. And it really came with kind of all of this excitement and about how this is going to revolutionize healthcare and make the health care decisions, you know, very personalized to that person's DNA that they're born with their genetic makeup that they're born with, as well as if some disease develops, oftentimes, diseases are due to some of the DNA in a particular cell going haywire, right. And so our ability to see those changes should help us provide better, more targeted drugs have a better idea about how a disease might progress, right. So we're really excited about this 20 years ago, and there's just a couple of unusual things in this space. You know, one thing that people most people aren't aware of, is this special terminology for these tests that we use in precision medicine, called laboratory developed tests. And they happen to fall into this kind of regulatory loophole, where they don't have to undergo any kind of FDA review before they go on the market. And a lot of times, especially since the sequencing of the human genome, a lot of investors have been interested in this space. And a lot of entrepreneurs have been interested in this space. But oftentimes, they don't come from a healthcare background. And so they haven't been like really rigorously trained and how you do kind of clinical test design validation. So that kind of lack of initial experience, and the lack of regulatory oversight has led to a lot of unproven tests entering the market. And that creates a lot of confusion for payers and a lot of confusion for providers, because you can't tell the difference between a test that is really impactful, and reliable. And a test that that really, I mean, it might even not even detect when it says it detects it might not detect it as well, it says it detects and the utility of knowing that information has probably not been established.
Ira Apfel08:46
So what is UnitedHealth Group and Optum doing to get genomics and precision medicine over that hump, so it is more useful and it really stretched to deliver on that promise?
Jill Hagenkord09:00
Yeah, UnitedHealth Group is really in a unique position to be able to kind of, quote unquote, unstick precision medicine, right, because we can impact really, both of the two big problems that I described, we can, you know, increase our, you know, the quality standards for the test that we pay for. And there are certainly, you know, some efforts in the industry that have been going on in this direction already. An example of this would be a program called Moldex. At Palmetto, which is a, one of the Mac's for Medicare. And they do quality checks of the tests before they'll cover, you know, or even consider them for coverage. And so kind of carrying on in that in that same vein, there are certain groups in Optum that are exploring ways that we could maybe help the industry by checking in to make sure that there's more quality in these tests. And then my team is also standing up a program We're calling it evidence engine when we're talking about it amongst ourselves. And the purpose of this is to actually help the test developers understand the evidence they need, and then help them get that evidence more quickly than ever before. So with the assets that we have at Optum and, and at UHG, generally, and with the skill sets that we have, we're able to kind of pull this data together from either preexisting datasets, or in, you know, potentially partnering with the teams that Optum OptumCare Research Institute, or other places where you can deploy a research program, and facilitate the development and proper development of this evidence so that payers and providers can more easily and quickly make an informed decision about coverage and utilization.
Ira Apfel10:55
You've been in this space for some time, and you've seen some missteps and some, you know, some problems and you've seen the challenges. How Optumistic or excited does the evidence engine make you given that it potentially could finally get some of this, some of these tests rolling or at least moving a little bit quicker?
Jill Hagenkord11:23
It For Me, this is like a very exciting career opportunity to be a part of this, I kind of make the joke all the time that I've been training my whole life for this. It has been frustrating to spend 2530 years in molecular diagnostics, and then what has become precision medicine, and to see so many potentially really good ideas die on the vine. Because of the problems that I've mentioned in this time to market and this uncertainty about what kind of evidence you need and why and how you tell the story to the healthcare market space. And we're really putting together a program that can save those products or I can get these potentially really impactful precision medicine products to patients more quickly. And you know, kind of really start to fulfill this promise of precision medicine in value-based care.
Ira Apfel12:15
Well, Dr. Hagenkord thanks so much for being on the podcast.
Jill Hagenkord12:18
Yeah. Thanks so much for having me.
Ira Apfel12:20
That's it for this episode of UnitedHealth Group’s Weekly Dose Podcast. Don't forget, subscribe to the multi dose podcast on Apple podcasts and Spotify. Thanks for listening and have a great rest of your week.