Episode 5: Genetic testing is having a moment, with Kamal Gogineni and Dr. Rakesh Patel from Invitae

Justin Steinman:
Definitively Speaking is a Definitive Healthcare podcast series recorded and produced in Framingham, Massachusetts. To learn more about healthcare commercial intelligence, please visit us at definitivehc.com.

Justin Steinman:
Hello, and welcome to the latest episode of Definitively Speaking, the podcast where we have data-driven conversations on the current state of healthcare. I'm Justin Steinman, chief marketing officer at Definitive Healthcare and your host for this podcast.

Justin Steinman:
Today we're going to take a slightly different take for this podcast. Instead of talking about data-driven intelligence in healthcare, we're going to talk about the actual data itself, specifically in the field of genetic testing. Genetic testing is having a bit of a moment if you will, with the market expected to more than double over the next five years and reach $10.3 billion. And with all that testing, we're going to create an incredible amount of data. The question that we want to explore today is what do we do with all that data and how can it improve healthcare? To help answer these questions and a whole lot more, I'm joined today by Kamal Gogineni and Dr. Rakesh Patel from Invitae, a leading medical genetics company.

Justin Steinman:
According to their website, Invitae's mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. Invitae's goal is to aggregate the world's genetic tests into a single service with higher quality, faster turnaround and lower prices, Kamal and Rakesh joined Invitae in 2021 when they sold Medneon, the company that they had founded in 2018, to Invitae. Kamal is now the President of Digital Health at Invitae and Rakesh is a practicing radiation oncologist at Good Samaritan Hospital in San Francisco, as well as chief medical officer for Digital Health at Invitae. Gentlemen, welcome to Definitively Speaking.

Kamal Gogineni:
Thanks, Justin.

Rakesh Patel, MD:
Thank you. Glad to be here.

Justin Steinman:
Kamal, let's start with you. I just read the about us paragraph from your website and it seems like you guys are doing a lot, and I mean that in a really good way, but for all of our listeners out there, can you explain who Invitae is and what it is you all do?

Kamal Gogineni:
Invitae provides DNA testing and oncology, women's health, cardiology, the rare diseases, neuro and newborn. Our Digital Health and data platform businesses help identify patients through early detection and we're building genome management information across the patient's lifetime. The genome information can be shared on a global scale to diagnose more patients correctly, earlier, bringing therapies to market faster.

Justin Steinman:
What is genome information in plain English for someone like me?

Kamal Gogineni:
Genome information is the information we capture out of a genetic testing, we call it whole genome sequencing. Out of that we collect the diagnostic information, then layer it with information that we bring in from our AI based platforms to do a personalized information that we'll build for the patient over lifetime.

Justin Steinman:
Got it. What is your role at Invitae?

Kamal Gogineni:
My role in Invitae, I'm Head of Digital Health. My role is to build and commercialize the unified platform on patient engagement, early detection, decision support tools for providers. We also have clinical trials that generate real world evidence, and personalized genetic insights to completely transform patient care and outcomes. I'll be working with various stakeholders by offering our platform to provider offices, health systems, payers, retail, employers, and lot of data partners.

Justin Steinman:
Got it, got it. Rakesh, how do you fit into the picture here?

Rakesh Patel, MD:
My role is the chief medical officer of Digital Health and data. I provide overall strategic input in the platforms that we build, from clinical decision support tools to real world data systems.

Justin Steinman:
You're also a practicing radiation oncologist, right?

Rakesh Patel, MD:
I am. I chair the high risk breast cancer program at a Silicon Valley hospital. For me, that's really important because it keeps me closer to the ground, closer to patients and allows me to continue to develop my ... what I feel is a deep understanding of clinical workflows, the things that are working, things that are gaps and where the provider pain points are. I feel that in my role, having an understanding and focusing on the why when we build things is pretty critical, understanding the patient journey from pre-diagnosis and healthy to of course, newly diagnosed. When you develop a cancer diagnosis, there are so many decisions that need to be made by the care team and by the patient and by the family that I think having being closely connected to that is very valuable for me as we build the next generation platform.

Justin Steinman:
I would agree, but if I hear you correctly, you basically have two full-time jobs?

Rakesh Patel, MD:
Yeah. I'm also a full-time son and a full-time father and a full-time spouse, but I couldn't be in a happier space. Largely, my role is in this head role in Digital Health at Invitae and at this point now the clinical component really supplements my knowledge base as CMO.

Justin Steinman:
We're going to come back and talk about some of that in a second. The reason we've invited you both here today is to talk about, as I said earlier, one of the hottest areas in healthcare today, genetic testing. And as I mentioned earlier, the genetic testing market is just exploding. According to the U.S. Department of Health and Human Services, the number of genetic tests that Medicare paid for increased by just 230% between 2016 and 2019, and according to Fortune Business Insight, the U.S. genetic testing market was 4.4 billion in 2020. As I said earlier, it's expected to more than double in size, to 10.3 billion, in 2027. What's driving this growth rate? Why is it growing so fast?

Rakesh Patel, MD:
Let's level set on what is genetic testing. From my perspective, clinical perspective, genetic testing is essentially the sequencing of human DNA in order to discover genetic differences, anomalies, and mutations that may inform our risk of disease. When we think about genetic testing historically, it really gets its roots in germline or hereditary mutations that we're born with and inherit from our parents that actually predispose an individual to a disease risk. If we understand that risk and understand those variances, then there's a belief that we may be able to catch disease early or prevent it altogether, which would be of course, the Holy Grail.

Rakesh Patel, MD:
But this understanding of genetic genomic information also now more and more so, especially in oncology also has an impact on personalizing treatment regimens because there are so many novel therapies now that have been born that leverage this difference in tumor biology or tumor mutations that allow us to develop precision medicine.

Justin Steinman:
Got it. You covered a lot of interesting things there. Let's go back and talk a little bit about some of this precision medicine that you were talking about, and it feels like another one of those great big buzzwordy things. How close are we to precision medicine? Almost controversially, I could say it's always been precision medicine. My doctor talks to me and he prescribes the right drugs for Justin, which might be different than the drugs for my wife or my son or the person next door. Talk to me about some of this.

Rakesh Patel, MD:
Yeah, it's a great point and you're right. I think the couple of buzz words here are personalized medicine, precision medicine. The goal for us is to really individualize a care path, give the right treatment to the right patient at the right time at the right dose, managing outcomes with some of the impact on quality of life, treating the patient holistically. This concept of personalizing a regimen where guidelines might tell you the right therapy that's indicated for the right disease, but incorporating other factors about the individual's health to come up with a care plan is really the primary principle of precision medicine. We're offering that pretty routinely now and leveraging our understanding of genetic information. Again, in that context, precision medicine is developing drugs oftentimes, or other therapies that target those molecular alterations in a very specific way so that you can eradicate the bad cells while preserving the good cells.

Justin Steinman:
As a patient, how do I know if genetic testing is right for me? Is this something I go ask my doctor for?

Rakesh Patel, MD:
Yes. In fact, it's readily available and most specialists certainly in oncology are incorporating this in their decision tree, more and more upfront. In other cases, virtual care networks have risen up, especially during the pandemic where you can actually meet with a genetic counselor and an expert to assess whether it's beneficial for you. The cost of testing has come down dramatically and in many cases is just a couple of a hundred dollars.

Justin Steinman:
Who's paying for all this testing? Is my insurance paying for it?

Rakesh Patel, MD:
In many cases, it is. As the evidence continuous to mount and as the guidelines incorporate genetic testing as a routine and in fact, important component of developing these personalized care paths, insurance is covering it. In fact, it's oftentimes mandatory to determine the right treatment for a given patient, but in cases where there is curiosity or there's a predisposition, the cost of testing is as low as $250. Patients can actually ask their provider or even ask some of these virtual networks whether they can access this testing.

Justin Steinman:
Got it. That's amazing that prices have just come down so much. Humor me for a second here as I think about this, when I think about genetic testing and I can't ... you could probably fit everything I knew about genetic testing before this podcast in a thimble and that would be a very small thimble, but when I thought of it, I thought of 23andMe. How is what you're doing different than a 23andMe?

Rakesh Patel, MD:
It's a good question. 23andMe has done a great job of patient engagement and I think has ... had played an important role in the field of genetics in the sense of creating awareness that information and variations in our DNA can actually inform risk. The difference here though, is that it's really about discovering variation that 23andMe does for a plethora of different cases, not to be mistaken with clinical grade testing, where there are certain diseases that we want to understand more information about and that go deeper into the various ways that mutations present, as well as making sense of that information for true clinical decision support so that that information can be incorporated in developing a treatment plan. In short, 23andMe does a good job of understanding variations, but may not be at the level of depth that a clinical grade genetic testing would allow physicians to make shared decisions from.

Justin Steinman:
Got it. I have one more question on the genetic testing before we go into some other area. It's almost a personal question for you, Rakesh.

Rakesh Patel, MD:
Sure.

Justin Steinman:
You've been practicing medicine probably for about 20 years. I imagine when you started, genetic testing was just not really prevalent or out there. How has that changed how you've practiced medicine?

Rakesh Patel, MD:
Oh, it's a great point. In fact, I have been practicing for 20 years and we were not trained in routine use of genetic testing, even for BRCA and those that are very common now and so this is a new field. It's very challenging for physicians, clinicians to keep up with the changing guidelines, with the changing evidence and not to be outdone by the changing therapies that are available based on those results. I would say it's dramatically changed. It's actually what keeps it very exciting as an oncologist because we have so many more tools in our toolbox that are available for patients. We have patients with stage 4 disease that end up being cancer-free and 20 years ago, that would be very uncommon.

Justin Steinman:
That's unbelievable actually. I mean, just so you think about it.

Rakesh Patel, MD:
Yeah.

Justin Steinman:
Wow. All right. I get it, genetic testing is giving us all sorts of new information that we never had access to and it's creating this explosion of new data. The challenge with any sort of massive data growth, everybody works in data, we're all living in a data world, is what do we do with it? One of my favorite sayings is, we're awash in data and you're lacking any intelligence from it. You're both running a business called Digital Health at Invitae. Digital Health is one of those weasel words that can mean almost anything. The FDA defines digital help as ... digital health, excuse me, as "The broad scope of digital health includes categories such as mobile health, health information technology, wearable device, telemedicine, telehealth, and personalized medicine for a mobile medical apps and software that support clinical decisions doctors make every day to artificial intelligence and machine learning. Digital technology is a driving force or a driving evolution in healthcare." End quote, from the FDA website. That's pretty super encompassing, covers multiple industries and use cases. What does Digital Health mean in the context of genetic testing and more specifically at Invitae?

Kamal Gogineni:
Digital Health is a new division at Invitae. Our mission is to detect diseases early, risk stratify and help individuals manage their predisposition to a certain disease or cancer over their lifetime. Based on a precision screening assessment or clinical decision support tools, we believe they will help providers access the right DNA test at the right point of care throughout the patient journey. These tests will have personalized insights for individuals based on their genes, mutations, and variants to help improve quality of life, manage the disease for better outcomes, continue the patient awareness and the engagement that helps in shared decision making. That's what we're excited at Invitae.

Justin Steinman:
As a cancer patient using this, is the oncologist using this? Is the person doing the billing at a hospital using this? Who's looking at this Digital Health platform and what are they learning out of it?

Kamal Gogineni:
These risk assessment tools are being used by patients and providers at health systems. Risk assessment and early detection saves billions of dollars. Our platform right now has digital engagement tools helping patients' intake on personal history, family history. We also have integral digital chat. This is important component of the Digital Health platform to keep the patient and the provider engaged. Over the time, we're using our prepaid risk assessment tools, patients can identify it sooner for screening, risk stratify it, qualify it for supplemental imaging and DNA test. A lot of things happen before the DNA test because we want to make sure that we are identifying eligible patients for DNA tests. That's where all the tools become very important.

Justin Steinman:
Rakesh, from a provider perspective, how are you using Digital Health?

Rakesh Patel, MD:
Yeah, it's a great question. Digital Health tools are essential, frankly, the onslaught of evidence and therapies and decisions that we make. I often say that cancer is one of the most decision-dense diseases. Patients need to make complex decisions, providers need to keep track of complex pathways that are ever changing. For me, Digital Health tools required to make sense of all of that. For example, in oncology, we need to collect family history, personal history and information is siloed amongst various data warehouses, meaning health systems. For me to make a multidisciplinary cohesive decision for a patient, I need us to all of that information at the point of care, meaning when the patient's in front of me in clinic or at a tumor board where all the experts are discussing the patient's case.

Rakesh Patel, MD:
Digital Health tools can be incredibly valuable of assembling all that information in an organized way, comparing it to national guidelines, allowing me to prove medical necessity for appropriate testing and developing insights and a care plan for that individual, and doing so over time. The other thing I'd say is that testing and decisions are not a one-time event, patients' individual medical and family history change throughout their lifetime and a single patient may benefit from multiple tests, both before a diagnosis and after. Staying connected to that patient is also one of the challenges that we face and Digital Health tools are a great way to stay connected.

Justin Steinman:
Let me ask, I'll probably betray my ignorance here but I'll ask, the question is, I thought my genes didn't change over the course of my life. Do they change?

Rakesh Patel, MD:
Great question. The genetics that you are born with, that you inherit for your parents, are your genetics. However, there are other factors that inform your risk. Your environmental exposure, other medical conditions that you may have, what we call phenotypic information are used in combination with your germline genetics that you inherited oftentimes to develop your risk of a disease, but also to develop a care path. Then there are genetics of the actual disease tissue. For example, in oncology there is tumor genetics. Tumor genetics are distinct and that is what we use to leverage our targeted therapies, for example. Genetics is a umbrella term, a large term but you have to really drill down what area of genetics are we speaking about.

Justin Steinman:
Got it. That really helps me a lot. Let's talk a little bit more about this cancer topic that we've been going around. According to the AARP, an individual diagnosed with cancer will spend about $150,000 over the course of his or her treatment. How can a Digital Health platform help identify patients sooner?

Rakesh Patel, MD:
One thing we know in oncology is that when cancers are detected earlier, the outcomes are better and the outcomes can be achieved with less intervention and less treatment. One of the goals of ... In oncology, I often say that the best way to treat a cancer is to never get one. By using Digital Health tools that will allow us to organize an individual's personal history, their family history, and oftentimes their genetics, we can actually identify an individual's likelihood of developing cancer well before they normally would. For example, when patients go to an imaging center, they go in annually, oftentimes at mammography, to see if there's a breast cancer lurking or not.

Rakesh Patel, MD:
And we have various risk factors, including breast density and others that tell us whether an individual is at a higher than average population, elevated risk or a lower than average population, meaning maybe we can adjust the cadence of that screening procedure or imaging. Very similarly, by incorporating some of these tools that pull on risk calculators as well as these guidelines, we can take very early intervention so that if an individual is going to have a breast cancer diagnosis by making a recommendation for an MRI, for example, of the breast or understanding a genetic predisposition, we can go proactively find a cancer when it's stage 1, versus when it's more advanced. Therefore, not only are the outcomes better, but the cost is more effective.

Justin Steinman:
You can't actually prevent cancer, can you?

Rakesh Patel, MD:
Well, sure you can. Let's say that you're born with a genetic predisposition, let's say BRCA, and you identify that before you develop a diagnosis, you can take proactive measures, for example a bilateral mastectomy, like Angelina Jolie, where was born with this predisposition, where her now subsequent risk of developing breast cancer is dramatically low, almost down to zero in that case.

Justin Steinman:
Are there other types of cancer or are there other equivalent type of preventative measures available?

Rakesh Patel, MD:
Yes. In fact, we have screening procedures. Oftentimes having a genetic predisposition gives us a roadmap or a playbook for the patient to be more proactive in procedures such as colonoscopy, supplemental imaging beyond a breast mammogram and others. The list go on, for example, in other cancers. It's important to realize that a specific genetic mutation may inform more than one cancer risk. Oftentimes the other adage to know is that if you identify a genetic predisposition in an individual that already has cancer, for example, then we may be able to prevent disease in all of her or his DNA relatives in those individuals. Oftentimes the best way to identify risk or elevated risk is through an affected family member, so this importance of this cascade or family member testing is also very important initiative in Digital Health for us.

Justin Steinman:
You really sound like Family Packs here, buy one test get one for your spouse.

Rakesh Patel, MD:
Well, cancer affects families and I think as does health risk. I'm certainly an advocate of using this digital engagement to identify risk before disease. Families are very proactive to help each other oftentimes.

Justin Steinman:
That's great. There's got to be a population health angle here, right? I mean, as I think about this at a macro scale.

Kamal Gogineni:
Population health pretty much cancer and the many issues associated with it have significant impact on public health at multiple levels in the U.S. and worldwide. Years of life loss due to premature deaths, economic burden due to lost productivity and the costs associated with illness and therapy, the long term effects of cancer and its treatment and the quality of life of survivors taken to hospital, it costs us billions of dollars and that's where we want to risk assess at the population health level, because a proportion of patients that develop cancer have a genetic predisposition that they're born with just like how Rakesh explained before and does often have a preventable cancer. The goal is to know it sooner. By moving risk assessment upstream from specialists and involving primary care providers, and ultimately the patients themselves at the public health level, we can really move the needle of the cancer and early intervention will save billions of dollars on the health system and improves quality of life.

Justin Steinman:
This is almost like an ... We talked about precision prevention, if you will.

Rakesh Patel, MD:
That's correct.

Justin Steinman:
Kind of a really interest and concept. Rakesh, continue my medical education by podcast here, as I'm just learning a ton. We talk about pharmacogenomics, another one of those things and so that's obviously ... What is pharmacogenomics? Instead of me defining it, why don't you define it? Have an expert say something.

Rakesh Patel, MD:
Sure. Pharmacogenomics uses genomic information to study individual responses to drugs and helps healthcare providers choose the right drug for the right individual patient.

Justin Steinman:
Got it. Is that the next step? We start with our genetic testing and then we go to this next step of pharmacogenomics?

Rakesh Patel, MD:
Yeah. I think rather than thinking about it as a next step, I think they're all important inputs to tailoring treatment. For individuals that require medication as a component of their treatment, I believe that pharmacogenomics is essential because you really ... by understanding the unique genetic characteristics, we can kind of replace the one size fits all approach of dosing and drug selection that is commonly used today and really tailor-make the recommendation.

Justin Steinman:
We spent a lot of time today talking about cancer and genetic testing and cancer, according to the U.S. CDC, more than 1.6 million people are diagnosed each year and more than 600,000 die from it. So it's a really critical area for us to be focusing genetic testing on, focus genetic testing on, excuse me. What other diseases are really good targets for genetic testing to do more of this precision prevention?

Kamal Gogineni:
We are expanding from cancer to other offerings, cardiology, women's health, pediatrics, urology, behavioral health, and of course, pharmacogenomics we just discussed. We're also connecting real world evidence clinical trials. We now have 19 health institutions participating, so paving our real world evidence strategies so we can develop more clinical decision support tools for our providers, deeper clinical insights so we can help pharma cut down the time and discovery regulatory approval and patients response to treatments and outcomes. All this is great insights for pharma to help develop new drugs and also rely on the genome information that we're going to provide.

Justin Steinman:
Got it. Well, gentlemen, thanks for your time today. This has been fantastic. I learned an immense amount about a new and rapidly growing field and I'm sure some of our listeners did as well. If there's one thing you'd want our listeners to take away from our conversation today, what would that one thing be about genetic testing?

Kamal Gogineni:
Inform patients, empower providers and share decision making both for providers, patients and advocates on early detection prevention and disease management.

Rakesh Patel, MD:
I would say that the data required by healthcare providers is becoming overwhelming. Having information such as an individual's genetics is essential for us to develop personalized precision care paths. It's in your DNA, don't be scared of it. It's going to allow us to tailor-make treatment for you.

Justin Steinman:
It really is all on the DNA, it's all on the genetics. That's fascinating, guys. Thank you very much for taking the time to talk. Again, to all of our listeners out there, thank you for listening to Definitively Speaking, a Definitive Healthcare podcast. Please join me next time for a conversation with Tim Bassi from SystmOne about the current staffing and hiring challenges in all aspects of healthcare, from doctors to nurses, from cities to rural areas, from hospitals to doctors' offices. If you like what you've heard today, please remember to rate, review and subscribe to the show on Apple Podcasts, Google Podcasts, Spotify, or wherever you get your podcasts. To learn more about how healthcare commercial intelligence can support your business, please follow us on Twitter @definitivehc or visit us at definitivehc.com. Until next time, take care and please stay healthy.