What is the future of DIY medical tests? | The Excerpt

On a special episode (first released on November 14, 2024) of The Excerpt podcast: DIY medical tests offer the convenience of monitoring your health at home, but they also come with ethical and medical concerns. For one, some carry the risk of misdiagnosis. Still, against the backdrop of high medical costs and an imbalance of access to care, is there reason to be optimistic about the future of DIY medical tests? Dr. Karen Kaul, Chair of Pathology at Endeavor Health NorthShore Hospitals, joins The Excerpt to discuss.

Hit play on the player below to hear the podcast and follow along with the transcript beneath it. This transcript was automatically generated, and then edited for clarity in its current form. There may be some differences between the audio and the text.

Podcasts: True crime, in-depth interviews and more USA TODAY podcasts right here

Dana Taylor:

Hello and welcome to The Excerpt. I'm Dana Taylor.

DIY medical tests offer the convenience of monitoring your health at home, but also come with ethical and medical concerns. While the tests may expand swift access to data, some carry the risk of misdiagnosis.

Still against the backdrop of high medical costs and an imbalance of access to care, is there reason to be optimistic about the future of DIY medical tests?

Here to discuss the potential ramifications of technology that may bypass expert medical advice is Dr. Karen Kaul, Chair of Pathology at Endeavor Health NorthShore Hospitals.

Thanks for being on The Excerpt, Dr. Kaul.

Dr. Karen Kaul:

Thank you for having me.

Dana Taylor:

Let's start with existing DIY medical tests, such as home pregnancy tests and COVID tests. What are some of the more established DIY tests that are accepted by the medical community?

Dr. Karen Kaul:

I think in the recent years, mostly due to COVID, we've become much more comfortable with patients collecting things on their own at home.

We've certainly all learned how to swab our noses in the last few years. Some of that may be for a totally at-home test, but sometimes we were delivering that sample to a hospital laboratory where it could be analyzed more fully.

And these appear to work well. They're integrated into the rest of our healthcare system, so that physicians are reviewing and using this information on a day-to-day basis, quite honestly, for taking care of their patients.

Dana Taylor:

I want to turn now to the potentially diminished role of doctors and other medical staff when a patient opts for certain DIY tests. Should some of these medical tests require a prescription or referral? What are your concerns here?

Dr. Karen Kaul:

Well, I think that this is something that we are all wrangling with right now, quite honestly. Ideally, the information from these tests should feed back into a patient's medical records, so that they can receive the appropriate treatment. And some of these tests are quite complicated.

At the same time, we understand that since COVID we are having access issues for many patients who can't get in to see physicians as quickly as they would like to. So I certainly understand some of the tensions that we're seeing in the medical marketplace.

The concerns I think that physicians have are that some of these tests are complicated. For example, some of the genetic tests that might indicate whether a patient is predisposed to a certain type of cancer may not have all of the possible variants for that cancer.

A classic one might be the BRCA test for breast cancer, and we know that the direct-to-consumer testing platforms that are out there don't cover all of the potential mutations. So we worry that patients may come away with a partial picture of what their actual risk may be.

Dana Taylor:

I was going to ask, who is the onus on here for understanding lab results, whether further testing is needed or if treatment is required?

Dr. Karen Kaul:

Well, I think that next steps in any medical treatment course would be generally involving a physician. But I think, again, this is changing very much in America.

Ideally, if a patient has a new diagnosis of COVID, or pregnancy, colorectal cancer with the Cologuard and so forth, they're working with their physician to make sure that that treatment is taking place appropriately. Similarly, for breast cancer and other disease risks, we'd like that to be folded back into the management of that patient so they're getting the right information.

But there certainly are a growing number of companies and test kits being made available to patients that are outside of medicine. And this is a concern for many of us in terms of what patients are hearing and doing with that information.

There's a lot that is coming on the horizon and that will change the way that we manage patients. And I'm thinking of some of the new information we're learning about our microbiome problems. We're learning about a variety of genes involving other tumor types or other disease types that we need to understand. There's a whole host of things, drug panels, vitamin panels, things in our diet, and so forth.

But I think for me, what is important is that these have withstood the test of a lot of scrutiny from the medical community as a whole.

Dana Taylor:

Dr. Kaul, how might DIY exams change the doctor-patient relationship?

Dr. Karen Kaul:

So, again, I am a bit of a traditionalist, in that I would hope that as new tests become available they're done so in a medically responsible way and with an understanding of these tests by physicians, so they know what to do with this information.

I don't see patients myself as a pathologist, but I hear from colleagues that they sometimes are brought results from an external independent company that a patient has pursued testing with. And they don't know enough about the test to know whether it is useful in taking care of this patient.

So I think we're struggling with this huge explosion in do-it-yourself tests. We're struggling with the fact that not all of them have undergone FDA approval and review. And we're just struggling with the explosion of medical information.

Medicine does need to evolve, and part of what we're seeing here is that evolution of medicine. But it's difficult to know for some of these companies offering testing exactly what they're offering to patients.

Dana Taylor:

I want to circle back to something that you brought up earlier about privacy, because it's another issue to consider. When it comes to genetic tests such as the ancestry exams that you mentioned, who has access to the results? And just how accurate are those tests?

Dr. Karen Kaul:

Many of these companies are operating on a business model in which the patient's information is shared with other companies for research or commercial purposes.

Right now, for example, with a lot of the genetic testing that's going on, and I think Ancestry and 23andMe and many of these others would be likely in this is bucket as well, insurance isn't paying for this. So it's a out-of-pocket expense for patients.

And some of these expenses, if the patient was paying the real price of that testing, are going to be extremely high. More than a patient would want to be paying.

So the business model of some of these companies is to take the data that they are generating by analyzing patients' samples, patients' genomes, for example, and sell that to another company. It might be a pharma companies looking at a way to develop a new drug or a new cancer test, or who knows what it might be.

But the genetic information market is a very hot market. And it is something that patients perhaps should be aware of when they think about who exactly is going to have access to their data and their information.

Dana Taylor:

We can't talk about DIY medical tests without discussing the role of venture capitalists. Tech founder Elizabeth Holmes is now in prison following the downfall of Theranos, which fraudulently claimed its test could analyze a patient's blood in minutes using just a drop. Can you share your thoughts regarding investment driving the home diagnostics market?

Dr. Karen Kaul:

On the one hand, I welcome innovation, I welcome investment and working with the private sector, but it does raise some very interesting challenges for us as we look at this.

Many of these companies will come up with an idea that may be very useful in medicine, but it is considered proprietary. And the usual transparency that we are accustomed to working within medicine is often lacking.

Trying to look under the hood and see how these new tests work, what genes are involved, getting large clinical trials underway that are evaluated by independent practitioners and experts in the field, and just really understanding what's going on can be difficult. Because these companies often will avoid publishing their work in the peer-reviewed literature, presenting it at the hundreds of medical conferences that take place every year that allow us to really evaluate new developments such as this. It really becomes a black box.

And I think Theranos is one of the most egregious examples of that. Many of us in the laboratory community were skeptical and really were met with no information when we tried to work with Theranos, invite Elizabeth Holmes to present at meetings, to publish, to really allow us to understand what was going on.

And while not all venture capital companies are a problem in this way, I think it is incumbent upon them to really be as open as they can to allow the medical community to understand this. And to not fall into a situation which I think Theranos did, where the company was built around a single idea that ended up in the end being flawed. And yet they were tied to investors and making a profit and pushing this forward even though it became apparent, as we all understand now, that this product really didn't work.

So there's a bit of a conflict of interest between what's best for patients and what might be best for a company in terms of the business aspects of that operation.

Dana Taylor:

I want to get a better understanding of how the FDA is regulating DIY medical tests. Where does that currently stand?

Dr. Karen Kaul:

The FDA historically will only take a look at the analytical part of a test, the reagents used to analyze whatever it is we might be looking for. And they really are looking at the claims made by that company and what is in the package insert, and that sort of thing.

So there's been kind of an interesting scenario set up in that labs sometimes have to slightly alter tests. And we have many examples of tests that didn't exist in a commercial sense, we couldn't purchase those reagents anywhere. And so labs have the capacity, with a lot of work and a lot of oversight, to generate their own test results. And we've been doing this for decades.

So FDA is re-examining this, and also I think re-examining how some of the external companies might be operating when they're involving lab-developed tests or lab-developed procedures, because those are not being fully over-reviewed by the FDA.

Now, the FDA does want anything that is involving direct-to-patient testing that is not involving a physician to be reviewed by the FDA. And I think that's a reasonable safety net.

Dana Taylor:

What's on the horizon with these DIY medical tests that you're hopeful about? Is there a chance that these tests will lead to early detection and treatment? What do you see as the potential upside here?

Dr. Karen Kaul:

Some of the areas that I'm most enthusiastic about are, of course, genetics and genomics. As we understand risks for a whole variety of new diseases, for how we manage our responses to medications and drugs, they are pharmacogenomics.

I think the human microbiome is going to be a very hot area, because we know that that is going to have tremendous impact on how our drugs are metabolized in our bodies, what our risk for cancer is likely to be. And risk for other diseases as well, such as diabetes and asthma, a long, long list there.

So there's tremendous potential, but I think also the opportunity and the need to really understand this better as we put this into sort of mainstream medical care.

Dana Taylor:

Ultimately are DIY medical tests about access to care and cost savings for patients?

Dr. Karen Kaul:

I would like to see they help with access, because I think the traditional visit to a physician's office is going to be in some settings more difficult, because we have more patients and fewer physicians now. So access to care is certainly a plus.

I think the medical community in general would like to see patients more engaged in their care, more involved in their care. And so if patients are availing themselves of easier ways that they can get this information, I think that's a wonderful thing.

Dana Taylor:

Dr. Kaul, if you had one takeaway to help people navigate a quickly evolving landscape here, what would it be?

Dr. Karen Kaul:

I think my advice for patients who are likely to be getting all sorts of information off the internet, through emails, there's a lot coming at all of us, and I think my advice would be to feel free to convey concerns, questions, ask advice of their physicians who are also moving through this new era of medicine along with them. Because we all need to work together to help patients live their best life in terms of health concerns and issues.

And I do hope that many of these new tools will be providing information that we can use to keep patients healthier overall, and avoid disease, or take care of it when it's at its earliest point, and therefore can have less impact on a patient's health. I think this feasibly, the early detection aspects and incorporating all the genetics, could be really a plus for patients.

Dana Taylor:

Thanks so much for joining us on The Excerpt, Dr. Kaul.

Dr. Karen Kaul:

Thank you.

Dana Taylor:

Thanks to our senior producer Shannon Rae Greene for production assistance. Our executive producer is Laura Beatty.

Let us know what you think of this episode by sending a note to podcasts@usatoday.com.

Thanks for listening. I'm Dana Taylor. Taylor Wilson will be back tomorrow morning with another episode of The Excerpt.

This article originally appeared on USA TODAY: What is the future of DIY medical tests? | The Excerpt