Invitae CEO Sean George joins Yahoo Finances on the move to talk about how Invitae is bringing genetic testing and information into mainstream discussions.

JULIE HYMAN: Im watching shares of Invitae, which have just about tripled this year. We are joined now by the CEO, Sean George, from San Francisco. Sean, thanks for joining us. You guys do diagnostic testing and you dont do it for COVID specifically, but you do it for a host of other diseases. And weve obviously seen COVID-19 testing really expand. You can drive up and get it in places. There are now going to be at-home tests that are going to be introduced. Do you think that this then gets people more comfortable with testing for a range of different diseases? Or are you hoping that it does?

SEAN GEORGE: Well, I think it does. And I think in general, trend of the last decade or so is people are starting to understand that this diagnostic information is very useful in advance of when theres an actual problem. Obviously, people are now getting very familiar with COVID testing, what it could have done prior to, and certainly during an outbreak and to manage it.

And when you think about how fundamental in an individuals genomic information is for their health, the idea is starting to catch hold with more and more people, especially generalists, and the idea that genetic information used at the right time, ahead of time, at every stage in life, has profound implications on an individuals health.

ADAM SHAPIRO: So these kinds of tests, we keep hearing in relation to COVID, the issue of false positives. But putting that to the side, in the traditional diagnostic models, whats an accepted, if there is, metric, for when youre going to get a false positive or false negative? How does the industry deal with that issue?

SEAN GEORGE: Right, and especially in medical genetics, that threshold is very, very, very, very tight. Its exacting on 99 and a few nines of how the percentage of sensitivity and specificity these tests need to have because of the profound implications of genetics. Whether its dealing with cancer, cardiovascular disorders, pediatric disorders, battling cancer as 45 million people are per year in the markets we serve, and to answer those fundamental questions and then take concrete medical next steps. The sensitivity specificity, the precision of the tests need to be extraordinarily high.

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BRIAN CHEUNG: Hey, Sean, Brian Cheung here. So for those that maybe arent that well versed in this type of science, explain to us exactly where you fit in the business world of things that might be tangentially related to genetic testing. I mean, do you guys work with say CRISPR firms or types of, I guess, diagnostic or treatment relative to businesses in that space? Where does your business fit in that universe?

SEAN GEORGE: I think the way to think about it, the people who, certainly anybody who has had an introduction or a brush with genetics and the health care, their clinician, were the number one brand in medical genetics around the globe. Their clinician certainly knows us and has been working with us for many years. And again, whether thats to diagnose any number of 1,000 rare disorders, to help an individual understand their prognosis and next best steps for cancer treatment.

Certainly around reproductive health. You may have heard carrier screening or non-invasive prenatal screening. Those are the kind of tests that we do. And we primarily do it with your clinician. Certainly up until now, mostly the specialists of the world, the medical genetics, the various conditions. Like I said, there are thousands. Ever increasingly, as we have dramatically driven down the price of the, weve driven down the cost of this testing by almost two orders of magnitude over the last 10 years.

And ever increasingly, generalists are starting to use this information. Theyre becoming more comfortable with it. We have tools and front end capabilities to allow clinicians to use the information without the deepest of knowledge around each individual gene, around each individual condition. And have tools online to follow the patients, follow up on their results, make sure they understand what the next best step is, and really support the clinician, the patient with the use of genetics in mainstream medical care.

JULIE HYMAN: And Sean, when were talking about genetics testing, is it mostly probability testing, particularly for cancers when you talk about carrier testing that youre at X percent risk for developing a certain disorder? Or is genetics testing also increasingly being used for actual diagnosis?

SEAN GEORGE: The kind of testing we specialize, the kind of testing put into play by most clinicians, medical geneticists, is a little more precise than just a very slight probability increase over average risk. These are, carrier screens, you mentioned, this will tell you whether you and your partner are carrying different conditions. It will tell you what are the odds specifically of having a child who might be affected by the condition. Or if you were to have a child, what would the odds be.

Ill take, for example, some of the cardiovascular diseases or cancer genetic diseases. If you have some of these genes that are affected, your risk is 30 to 80 times the population average risk of these conditions. So its quite prognostic. Now like I said, when you do get an answer, it really helps to diagnose the condition far earlier than you would otherwise be able to without the use of genetics.

And then depending on the disease, there are a variety of next steps, all the way from preventive approaches to therapies. And we work with over 100 biopharmaceutical partners too, who have therapies that are specifically targeted against genetic conditions that we can introduce our patients to as early as possible.

JULIA LA ROCHE: Sean, this is such a fascinating discussion, what youve been bringing up, and youre talking about the next best action. And its such an interesting way to look at health care, especially looking at it from preventative as well, or even just having a better understanding of your genetics and what it could mean or what the outcomes can be. I guess for you, if we could just kind of step back, what is the moonshot for you when it comes to your business and the broader health care system?

SEAN GEORGE: And in fact, were kind of, Im not sure at what inning we are in of that moonshot, I think its probably early, first or second. But the real idea, and when we founded the company, it was a simple idea. Genetics is so impactful for health care on an individual basis, yet is sparingly used at all in modern health care around the globe. The moonshot is really to have an individuals genome available, managed on their behalf, so that information can be put into play at the right point, at the right time, with all of the people around them that can help put that information to use for their health.

So for example, upon birth. 3% of live births end up in the NICU or the PICU because of genetic conditions. Having that information instantaneously would dramatically improve the outcome of the children in that situation. Some 20% to 30% of populations primary health care complaint over their lives will be genetic in nature.

Knowing that ahead of time instead of after years and years and years of symptoms kind of popping up and then getting worse over time and finally getting diagnosed, knowing ahead of time can greatly improve the preventive measures taken. I think we will in five to 10 years, we will look back in horror thinking that women had children, started families without accessing the fundamental genetic information that can introduce so much risk along the way, either for the women themselves during carrying to term, and then certainly upon delivery.

And I think cancer is another example. Its one of the more advanced conditions when considering molecular medicine. I think again, in 10 years well look back, and the idea that we didnt access the fundamental information about a persons genetic background and the genomics of the cancer itself to precision tailor treatment to them, I think well look back and wonder why we didnt do it faster.

But again, a big problem with that has been cost in the past, and weve taken care of that and are continuing to work on it. So I think across all stages in life, were about to see here in the next decade this genetic information to be used almost as a medical utility. Again, and our aim is, the moonshot is to across all stages of life, all the way from birth until youre dealing with aging and senescence.

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Invitae CEO on how COVID-19 testing could have a positive impact on the future of genetics testing - Report Door