The Burgeoning Business of Sleep Genetic and Biomarker Testing0

Home biological testing grows but clinical relevance to sleep medicine remains elusive.

The walls of medical facilities are expanding to accommodate consumers who increasingly conduct biological testing in their own homes. The minds of healthcare practitioners are feeling pressure to become more open as well, as patients enter medical offices with “sleep genetic screening” and similar test results in hand.

Kalorama Information’s new Direct-To-Consumer Testing Market report estimates the consumer lab testing market at $208 million in 2018 and predicts double-digit growth in its future—due to increasing consumer demand and easing of regulatory processes.1 Bruce Carlson, Kalorama Information’s publisher, said in a statement about the new report, “It’s not just that consumers are more informed and more cost-conscious; the increase in high deductible insurance plans requires that individuals ask more.”

With the increased use of the Internet for medical information, people have become medical consumers, not just patients, the report observes. This has created a change in the doctor/patient relationship as individuals become more knowledgeable about their own health and want more control over their personal information and treatment decisions.

At the same time, increased awareness of sleep health as key to overall well-being means that consumers want in-depth analytics about their slumber. Many biological testing companies have rushed to fill this demand: MyVytalics MySleepInsights, 23andMe Wake-up Time Trait Report, Thorne Sleep Test, Exploragen SlumberType, and EverlyWell Sleep & Stress Test are just a few of the reports your patients can purchase directly.

“There has always been some access to this—for example, home pregnancy tests have been around for a long time. Now we have the introduction of everything from wearable devices that tell you about your heart rate or your UV exposure to sophisticated home genetic and microbiome tests. The idea of testing something at home has started to become normal for consumers,” says Robert Rountree, MD, chief medical officer at Thorne, which supplies a direct-to-consumer urine test for melatonin and cortisol measurements.

While at-home testing is extremely accurate for identifying pregnancy, there are questions about what clinical relevance, if any, at-home saliva and urine screens for sleep traits might have. “To date these tests have had limited impact on typical clinical practice, given a combination of relatively low volumes and, in some cases, unclear clinical relevance,” says American Academy of Sleep Medicine (AASM) president Douglas B. Kirsch, MD. The AASM doesn’t anticipate releasing best practice guidelines about these tests in the near future. “Practice guidelines are initiated due to a combination of clinical demand and significant clinical research; consumer laboratory testing does not appear to have cleared those barriers at this point,” Kirsch says.

But as sleep researchers make new discoveries, the relevancy of biological testing in the treatment of sleep disorders will likely increase. “There is likely to be growth in genetic testing related to sleep, not solely due to consumer interest, but because it will be a portion of a more precise assessment and treatment of a patient’s specific sleep disorder,” Kirsch says. Sleep biomarkers are an active area of research in assessment of sleepiness and of sleep disorders, he adds. “An area currently actively being researched is using gene activity to identify patients’ circadian cycles, currently performed as a complex test of salivary melatonin in the sleep laboratories,” he says.

Since direct-to-consumer sleep tests aren’t diagnostic and their fine print typically encourages purchasers to talk to medical professionals for medical concerns, what information are they providing and to whom?

MyVytalics’ core audience is individuals interested in healthy aging and general wellness. Based on its market analysis, its users are most typically women 35 years and older (men only make up about 20% of its users). “We want to use the [MySleepInsights] report as an entry point to educate our customers about the impact of DNA on sleep. And although the findings are not deterministic, they provide an opportunity for self-discovery,” say co-founders Adrian Vilalta, PhD, and Eric Dec, MD.

“The second goal is to begin understanding the dynamic interaction between our environment and our genome as it pertains to sleep. For example, our diet is part of the environment we literally consume. We provide insights on the impact of DNA on the response to common foods and nutrients relevant for sleep. For example, DNA plays a role in sensitivity to caffeine and alcohol, two common components in the American diet. Additionally, levels of important nutrients like vitamins D and B12 are also influenced by genetics.”

MyVytalics sleep insights are personalized to each customer’s unique genomic variation and may suggest ways to look at the components of traditional sleep hygiene protocols, the co-founders add.

Health, technology, and supplement company Thorne has introduced 10 at-home health tests including sleep, fertility, thyroid, stress, weight management, and heavy metals. The Sleep Test analyzes 4 urine samples for melatonin metabolite 6-sulphatoxymelatonin and cortisol. “The reporting is geared more towards patients but is very usable by clinicians. We report the biomarker, the normal/expected range, the result for the patient. This is usually all that clinicians are concerned with as they are generally going to be familiar with the markers and what they mean in relation to sleep quality,” Rountree says. “Our report also includes a consumer-friendly interpretation of the results that gives patients some background on the biomarkers, what their results may say about their sleep, and supportive recommendations for diet and lifestyle.”

Direct-to-consumer tests are generally not covered by third-party payors, but healthcare professional-ordered home tests sometimes are.

For example, BioHealth Laboratory recently launched an at-home DLMO (dim light melatonin onset) circadian/sleep assessment that is covered by the CPT and ICD-10 codes for melatonin and insomnia, according to BioHealth Laboratory co-owner Brendon Clarke. Its Sleep Profile uses 8 melatonin readings to calculate DLMO threshold to determine if the patient has advanced, regular, or delayed sleep onset—very similar to the in-lab DLMO saliva testing that your sleep lab might already offer.

“We see it ordered by a couple different types of clients. The first is sleep technologists and sleep doctors who are looking at ways to diagnose patients with circadian disorders. The second are functional medicine practitioners who need to add a new tool to their toolbox to help those with sleep dysfunction,” Clarke says. “Reporting is geared towards the professional but it’s easy enough for the layperson to understand. The report shows each individual melatonin level, the individual’s melatonin threshold, and where it is crossed.”

The AASM doesn’t have guidelines on home-based DLMO assessments. “DLMO testing has been best studied in a clinical laboratory setting with exacting criteria,” says AASM’s Kirsch. “Home DLMO testing, while potentially doable, may not be easy for consumers. In the setting of suboptimal criteria, the test results may be difficult to interpret or may steer the clinician in an incorrect direction.”

A Journal of Sleep Research study found good agreement between home and lab DLMO assessments—but it included safeguards for proper use, including objective measures of dim light compliance (for example, a light meter smartphone app), objective monitoring of sampling times (for example, a medication monitoring device that tracks when collection containers are opened), and a system to reduce labeling errors.2

Naturopathic doctor Tracy Tranchitella, ND, uses BioHealth Laboratory’s new home DLMO assessment at the SunRise Complementary Medical Center in Bend, Ore. “As a part of its HPA [hypothalamic-pituitary-adrenal] profile assessment, BioHealth has offered for a long time a single salivary measurement of melatonin taken at 10 pm. Previously, I used that test and compared it to nighttime cortisol values to evaluate sleep. But that was like taking a snapshot of a moving picture. The new DLMO assessment offers us a lot more information about where things are going….I think [the DLMO assessment] will be most useful for doctors who do sleep studies and neurologists who see people with intractable insomnia.”

Generally, direct-to-consumer tests for non-medical, general wellness, or low risk medical purposes are not reviewed by the US Food and Drug Administration (FDA) before they are offered. On its website, the FDA advises, “Direct-to-consumer tests have varying levels of evidence that support their claims. Some direct-to-consumer tests have a lot of scientific and clinical data to support the information they are providing, while other tests do not have as much supporting data….[C]onsumers must use their judgment when ordering and interpreting their results from these tests. Consumers should consider discussing their results with a genetic counselor or a qualified health care provider to better understand the clinical relevance of the result to their own health.”3

AASM’s Kirsch says, “The challenge with consumer-based laboratory testing is that data in the absence of clarity of meaning causes confusion in the consumer. The consumer has paid for the laboratory service; and in this consumer-facing context, part of that service should be adequate education. If the consumer has further questions beyond what they are provided, they will likely seek help from the medical community for a test result which may or may not actually impact their health in the short- or long-term.”

Many direct-to-consumer testing companies publish databases on their websites of medical professionals who are familiar with their specific tests, and tell patients to reach out to experts if they want additional guidance. If patients bring their patient-initiated testing results to your practice, Kirsch advises, “Sleep doctors should review the consumer data with the patient to the best of their knowledge, recognizing the implicit limitations of the test and associated clinical data within the clinical context of the patient.”

Some companies also flag potentially concerning test results and reach out to the consumer with resources prior to releasing those results to them.

Kirsch says there are other potential concerns with direct-to-consumer tests. “Beyond the risk of home DNA or biomarker testing misinterpretation is the risk of privacy breach and/or use of consumer biological samples for research beyond the purview of the requested testing,” he says.

Indeed, the collection of data from so many consumers has the potential to provide population-level insights about sleep health. What’s more, some direct-to-consumer lab companies enrich their datasets by encouraging users to upload data from their smart devices, such as consumer activity trackers, or complete questionnaires about their behaviors. But whether consumers are OK with or even aware that their information may be used for big data purposes is unclear.

But none of these challenges seem insurmountable to the home biological testing market. As the general public becomes more interested in quantifying their sleep, medical professionals should prepare for new direct-to-consumer sleep tests to debut in the coming years.

Sree Roy is editor of Sleep Review.

References

1. Kalorama Information. Direct-To-Consumer Testing Market. 17 Jan 2019. Available at https://kaloramainformation.com/product/direct-to-consumer-testing-market-2/
2. Burgess HJ, Park M, Wyatt JK, Fogg LF. Home dim light melatonin onsets with measures of compliance in delayed sleep phase disorder. J Sleep Res. 2016 Jun;25(3):314-7.
3. Food and Drug Administration. Direct-to-Consumer Tests. 01 Nov 2018. Available at www.fda.gov/MedicalDevices/ProductsandMedicalProcedures/InVitroDiagnostics/ucm624726.htm.

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