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Teladoc Reports $13.7B Loss for 2022, Just Two Years after Livongo Acquisition

Loss could indicate an industrywide slowdown in digital health adoption and suggests medical laboratories will want to continue developing a virtual care strategy

Only two years after Teladoc Health (NYSE:TDOC) completed acquisition of Livongo, a data-based health coaching company, the virtual healthcare provider reported a 2022 net loss of $13.7 billion, a company press release announced.

The loss, which has been described as “historic,” is “mostly from a write-off related to the plummeting value of its Livongo acquisition. … By comparison, in 2021 [just a year earlier], Teladoc posted a net loss of $429 million,” Fierce Healthcare reported.

However, during Teladoc’s fourth quarter earnings call, CEO Jason Gorevic said, “We are pleased with the strong fourth quarter and full-year operating results. Despite a challenging macro environment, we were able to expand our product offerings and enhance the level of care delivered across our integrated whole-person platform.” Teladoc Health’s 2022 revenue was $2,406,840 compared to $2,032,707 in 2021. That’s an 18% increase over last year’s revenue, according to the earnings report. Nevertheless, a month before the earnings call Teladoc laid off 300 non-clinician employees, Fierce Healthcare noted.

Jason Gorevic

“Teladoc Health has been at the forefront of the adoption curve, and we believe that our scale, breadth of product offering, and proven outcomes will enable us to maintain and expand our position in the market,” said Teladoc Health CEO Jason Gorevic during February’s earnings call. Clinical laboratory leaders may view the company’s $13B loss as indication that adoption in telehealth by physicians, healthcare providers, and patients of digital-based health services is not happening as swiftly has been predicted. (Photo copyright: The Business Journals.) 

Predictions in Telehealth Adoption Fall Short

Teladoc Health, based in Purchase, New York, acquired Livongo of Mountain View, California, in October 2020 for $18.5 billion. 

A news release at that time declared that the merger was “a transformational opportunity to improve the delivery, access, and experience of healthcare for consumers around the world.

“The highly complementary organizations,” the release stated, “will combine to create substantial value across the healthcare ecosystem, enabling clients everywhere to offer high quality, personalized, technology-enabled longitudinal care that improves outcomes and lowers costs across the full spectrum of health.”

The deal was hailed as advancing telemedicine and digital health services. As it turned out, though, the demand for those types of services fell far short of the Teladoc’s expectations. One way to interpret the cause of the multi-billion dollar write-down is that adoption of digital health services by physicians, healthcare providers, and consumers is not happening as fast as Teladoc projected.

It may also be that companies allocated too much money to deals during the COVID-19 pandemic, an unstable period of time for making major business decisions.

In fact, worldwide digital health funding fell 57% in 2022 after a high in 2021, according to a CB Insights State of Digital Health 2022 Report.

Teladoc to Reduce Costs while Pursuing Increased Adoption of Virtual Care

Gorevic told analysts during the earnings call that the company needs to reduce costs and reach a market that is “in the early innings.” Year-over-year growth of 6% to 11% is expected in 2023, he said.

“You should expect us to balance growth and margin with an increased focus on efficiency going forward. Part of that approach is rightsizing the cost structure to reflect the current growth rates of the business,” Gorevic said. “The more balanced approach does not mean that we will stop relentlessly pursing growth and increased adoption of virtual care across the industry. Virtual care’s role within the healthcare industry remains underpenetrated, and we will continue to invest to expand our leadership position,” he added.

Digital Health Investing Falls Off

However, citing digital health market data in the new CB Insights report, Becker’s Hospital Review(Becker’s) suggested the digital health bubble may have “popped,” and that funding by investors is falling fast from the “Golden Age” of 2021.  

The digital health category grew by 79% in 2021 to $57.2 billion, a record high, according to data cited by Becker’s. In the fourth quarter of 2021, there were 13 new digital health companies with valuations of at least $1 billion each. But by the end of 2022, digital health funding dropped to $3.4 billion. That’s “a five-year low,” Becker’s reported.

“The drop in funding in digital health companies I feel is a response to the volatility in healthcare where over 50% of hospitals and healthcare providers have posted losses for 2022 and a bleak outlook for 2023,” Darrell Bodnar, Chief Information Officer at North Country Healthcare in Lancaster, New Hampshire, told Becker’s.

And, in a statement about hospitals’ financial health, Fitch Ratings said providers in 2022 reported “weaker profitability and liquidity” as compared to 2021. For most providers, a “rapid financial recovery” is not expected, Fitch noted.

Labs Need Telehealth Strategies

All of this uncertainty in the telehealth/virtual care markets may ultimately benefit clinical laboratories and lab investors who delayed investing in technology that enables supporting physicians and patients using telemedicine visits. Still, it would be smart for medical laboratory leaders to develop a digital health strategy to meet consumer demand for lab testing services in tandem with virtual care visits with healthcare providers. 

—Donna Marie Pocius

Related Information:

Teladoc Health Reports Fourth Quarter and Full Year 2022 Results

Teladoc Sinks $13.7B Loss in 2022 Tied to Plummeting Value of Livongo Acquisition

Teladoc Health and Livongo Merge to Create New Standard in Global Healthcare Delivery, Access, and Experience

State of Digital Health 2022 Report

What is Digital Health?

Teladoc Health Reports $13B Loss in 2022

Early Not-for-Profit Hospital Medians Show Expected Deterioration, Will Worsen

Did the Digital Health Bubble Pop? CIOs Weight In

US and UK Researchers Simultaneously Develop New Tests to Detect Prostate Cancer

Though still in trials, early results show tests may be more accurate than traditional clinical laboratory tests for detecting prostate cancer

Within weeks of each other, different research teams in the US and UK published findings of their respective efforts to develop a better, more accurate clinical laboratory prostate cancer test. With cancer being a leading cause of death among men—second only to heart disease according to the Centers for Disease Control and Prevention (CDC)—new diagnostics to identify prostate cancer would be a boon to precision medicine treatments for the deadly disease and could save many lives.

Researchers at the University of East Anglia (UEA) in Norwich, England, were working to improve the accuracy of the widely-used and accepted prostate-specific antigen (PSA) test. By contrast, researchers at Cedars-Sinai Cancer in Los Angeles, pursued a new liquid biopsy approach to identifying prostate cancer that uses nanotechnology.

Thus, these are two different pathways toward the goal of achieving earlier, more accurate diagnosis of prostate cancer, the holy grail of prostate cancer diagnosis.

Dmitry Pshezhetskiy, PhD

“There is currently no single test for prostate cancer, but PSA blood tests are among the most used, alongside physical examinations, MRI scans, and biopsies,” said Dmitry Pshezhetskiy, PhD (above), Professorial Research Fellow at University of East Anglia and one of the authors of the UEA study. “However, PSA blood tests are not routinely used to screen for prostate cancer, as results can be unreliable. Only about a quarter of people who have a prostate biopsy due to an elevated PSA level are found to have prostate cancer. There has therefore been a drive to create a new blood test with greater accuracy.” With the completion of the US and UK studies, clinical laboratories may soon have a new diagnostic test for prostate cancer. (Photo copyright: University of East Anglia.)

East Anglia’s Research into a More Accurate Blood Test

Scientists at the University of East Anglia (UEA) worked with researchers from Imperial College in London, Imperial College NHS Trust, and Oxford BioDynamics to develop a new precision medicine blood test that can detect prostate cancer with greater accuracy than current methods.

The epigenetic blood test they developed, called Prostate Screening EpiSwitch (PSE), can identify cancer-specific chromosome conformations in blood samples. The test works in tandem with the standard prostate-specific antigen (PSA) blood test to diagnose prostate cancer, according to an Oxford BioDynamics press release.

The researchers evaluated their test in a pilot study involving 147 patients. They found their testing method had a 94% accuracy rate, which is higher than that of PSA testing alone. They discovered their test significantly improved the overall detection of prostate cancer in men who are at risk for the disease. 

“When tested in the context of screening a population at risk, the PSE test yields a rapid and minimally invasive prostate cancer diagnosis with impressive performance,” Dmitry Pshezhetskiy, PhD, Professorial Research Fellow at UEA and one of the authors of the study told Science Daily. “This suggests a real benefit for both diagnostic and screening purposes.”

The UK scientists hope their test can eventually be used in everyday clinical practice as there is a need for a highly accurate method for prostate cancer screening that does not subject patients to unnecessary, costly, invasive procedures. 

The UEA researchers published their findings in the peer-reviewed journal Cancers, titled, “Circulating Chromosome Conformation Signatures Significantly Enhance PSA Positive Predicting Value and Overall Accuracy for Prostate Cancer Detection.”

Cedars-Sinai’s Research into Nanotechnology Cancer Testing

Researchers from Cedars-Sinai Cancer took a different approach to diagnosing prostate cancer by developing a nanotechnology-based liquid biopsy test that detects the disease even in microscopic amounts.  

Their test isolates and identifies extracellular vesicles (EVs) from blood samples. EVs are microscopic non-reproducing protein and genetic material shed by all cells. Cedars-Sinai’s EV Digital Scoring Assay accurately extracts EVs from blood and analyzes them faster than similar currently available tests.

“This research will revolutionize the liquid biopsy in prostate cancer,” said oncologist Edwin Posadas, MD, Medical Director of the Urologic Oncology Program and co-director of the Experimental Therapeutics Program in Cedars-Sinai Cancer in a press release. “The test is fast, minimally invasive and cost-effective, and opens up a new suite of tools that will help us optimize treatment and quality of life for prostate cancer patients.”

The researchers tested blood samples from 40 patients with prostate cancer. They found that their EV test could distinguish between cancer localized to the prostate and cancer that has spread to other parts of the body.

Microscopic cancer deposits, called micrometastases, are not always detectable, even with advanced imaging methods. When these deposits spread outside the prostate area, focused radiation cannot prevent further progression of the disease. Thus, the ability to identify cancer by locale within the body could lead to new precision medicine treatments for the illness.

“[The EV Digital Scoring Assay] would allow many patients to avoid the potential harms of radiation that isn’t targeting their disease, and instead receive systemic therapy that could slow disease progression,” Posadas explained.

The Cedars-Sinai researchers published their findings in Nano Today, titled, “Prostate Cancer Extracellular Vesicle Digital Scoring Assay: A Rapid Noninvasive Approach for Quantification of Disease-relevant mRNAs.”

Other Clinical Laboratory Tests for Prostate Cancer Under Development

According to the American Cancer Society, the number of prostate cancer cases is increasing. One out of eight men will be diagnosed with the illness during his lifetime. Thus, developers have been working on clinical laboratory tests to accurately detect the disease and save lives for some time.

In “University of East Anglia Researchers Develop Non-Invasive Prostate Cancer Urine Test,” Dark Daily reported on a urine test also developed by scientists at the University of East Anglia that clinical laboratories can use to not only accurately diagnose prostate cancer but also determine whether it is an aggressive form of the disease.

And in “UPMC Researchers Develop Artificial Intelligence Algorithm That Detects Prostate Cancer with ‘Near Perfect Accuracy’ in Effort to Improve How Pathologists Diagnose Cancer ,” we outlined how researchers at the University of Pittsburgh Medical Center (UPMC) working with Ibex Medical Analytics in Israel had developed an artificial intelligence (AI) algorithm for digital pathology that can accurately diagnose prostate cancer. In the initial study, the algorithm—dubbed the Galen Prostate AI platform—accurately detected prostate cancer with 98% sensitivity and 97% specificity.

More research and clinical trials are needed before the new US and UK prostate cancer testing methods will be ready to be used in clinical settings. But it’s clear that ongoing research may soon produce new clinical laboratory tests and diagnostics for prostate cancer that will steer treatment options and allow for better patient outcomes.  

—JP Schlingman

Related Information:

The New Prostate Cancer Blood Test with 94 Percent Accuracy

Circulating Chromosome Conformation Signatures Significantly Enhance PSA Positive Predicting Value and Overall Accuracy for Prostate Cancer Detection

Invention: A Blood Test to Unlock Prostate Cancer Mysteries

Prostate Cancer Extracellular Vesicle Digital Scoring Assay: A Rapid Noninvasive Approach for Quantification of Disease-relevant mRNAs

Could a Urine Test Detect Pancreatic and Prostate Cancer? Study Shows 99% Success Rate

University of East Anglia Researchers Develop Non-Invasive Prostate Cancer Urine Test

UPMC Researchers Develop Artificial Intelligence Algorithm That Detects Prostate Cancer with ‘Near Perfect Accuracy’ in Effort to Improve How Pathologists Diagnose Cancer

Cedars-Sinai Researchers Determine Smartphone App Can Assess Stool Form as Well as Gastroenterologists and Better than IBS Patients

Artificial intelligence performs BSS assessments with higher sensitivity and specificity than human diagnosticians

In a recent study conducted by scientists at Cedars-Sinai Medical Center in Los Angeles, researchers evaluated a smartphone application (app) that uses artificial intelligence (AI) to assess and characterize digital images of stool samples. The app, it turns out, matched the accuracy of participating gastroenterologists and exceeded the accuracy of study patients’ self-reports of stool specimens, according to a news release.

Though smartphone apps are technically not clinical laboratory tools, anatomic pathologists and medical laboratory scientists (MLSs) may be interested to learn how health information technology (HIT), machine learning, and smartphone apps are being used to assess different aspects of individuals’ health, independent of trained healthcare professionals.

The issue that the Cedars Sinai researchers were investigating is the accuracy of patient self-reporting. Because poop can be more complicated than meets the eye, when asked to describe their bowel movements patients often find it difficult to be specific. Thus, use of a smartphone app that enables patients to accurately assess their stools in cases where watching the function of their digestive tract is relevant to their diagnoses and treatment would be a boon to precision medicine treatments of gastroenterology diseases.

The scientists published their findings in the American Journal of Gastroenterology, titled, “A Smartphone Application Using Artificial Intelligence Is Superior to Subject Self-Reporting when Assessing Stool Form.”

Mark Pimentel, MD

“This app takes out the guesswork by using AI—not patient input—to process the images (of bowel movements) taken by the smartphone,” said gastroenterologist Mark Pimentel, MD (above), Executive Director of Cedars-Sinai’s Medically Associated Science and Technology (MAST) program and principal investigator of the study, in a news release. “The mobile app produced more accurate and complete descriptions of constipation, diarrhea, and normal stools than a patient could, and was comparable to specimen evaluations by well-trained gastroenterologists in the study.” (Photo copyright: Cedars-Sinai.)

Pros and Cons of Bristol Stool Scale

In their paper, the scientists discussed the Bristol Stool Scale (BSS), a traditional diagnostic tool for identifying stool forms into seven categories. The seven types of stool are:

  • Type 1: Separate hard lumps, like nuts (difficult to pass).
  • Type 2: Sausage-shaped, but lumpy.
  • Type 3: Like a sausage, but with cracks on its surface.
  • Type 4: Like a sausage or snake, smooth and soft (average stool).
  • Type 5: Soft blobs with clear cut edges.
  • Type 6: Fluffy pieces with ragged edges, a mushy stool (diarrhea).
  • Type 7: Watery, no solid pieces, entirely liquid (diarrhea). 

In an industry guidance report on irritable bowel syndrome (IBS)and associated drugs for treatment, the US Food and Drug Administration (FDA) said the BSS is “an appropriate instrument for capturing stool consistency in IBS.”

But even with the BSS, things can get murky for patients. Inaccurate self-reporting of stool forms by people with IBS and diarrhea can make proper diagnoses difficult.

“The problem is that whenever you have a patient reporting an outcome measure, it becomes subjective rather than objective. This can impact the placebo effect,” gastroenterologist Mark Pimentel, MD, Executive Director of Cedars-Sinai’s Medically Associated Science and Technology (MAST) program and principal investigator of the study, told Healio.

Thus, according to the researchers, AI algorithms can help with diagnosis by systematically doing the assessments for the patients, News Medical reported.

30,000 Stool Images Train New App

To conduct their study, the Cedars-Sinai researchers tested an AI smartphone app developed by Dieta Health. According to Health IT Analytics, employing AI trained on 30,000 annotated stool images, the app characterizes digital images of bowel movements using five parameters:

  • BSS,
  • Consistency,
  • Edge fuzziness,
  • Fragmentation, and
  • Volume.

“The app used AI to train the software to detect the consistency of the stool in the toilet based on the five parameters of stool form, We then compared that with doctors who know what they are looking at,” Pimentel told Healio.

AI Assessments Comparable to Doctors, Better than Patients

According to Health IT Analytics, the researchers found that:

  • AI assessed the stool comparable to gastroenterologists’ assessments on BSS, consistency, fragmentation, and edge fuzziness scores.
  • AI and gastroenterologists had moderate-to-good agreement on volume.
  • AI outperformed study participant self-reports based on the BSS with 95% accuracy, compared to patients’ 89% accuracy.

Additionally, the AI outperformed humans in specificity and sensitivity as well:

  • Specificity (ability to correctly report a negative result) was 27% higher.
  • Sensitivity (ability to correctly report a positive result) was 23% higher.

“A novel smartphone application can determine BSS and other visual stool characteristics with high accuracy compared with the two expert gastroenterologists. Moreover, trained AI was superior to subject self-reporting of BSS. AI assessments could provide more objective outcome measures for stool characterization in gastroenterology,” the Cedars-Sinai researchers wrote in their paper.

“In addition to improving a physician’s ability to assess their patients’ digestive health, this app could be advantageous for clinical trials by reducing the variability of stool outcome measures,” said gastroenterologist Ali Rezaie, MD, study co-author and Medical Director of Cedars-Sinai’s GI Motility Program in the news release.

The researchers plan to seek FDA review of the mobile app.

Opportunity for Clinical Laboratories

Anatomic pathologists and clinical laboratory leaders may want to reach out to referring gastroenterologists to find out how they can help to better serve gastro patients. As the Cedars-Sinai study suggests, AI smartphone apps can perform BSS assessments as good as or better than humans and may be useful tools in the pursuit of precision medicine treatments for patient suffering from painful gastrointestinal disorders.

—Donna Marie Pocius

Related Information:

Smartphone Application Using Artificial Intelligence is Superior to Subject Self-Reporting When Assessing Stool Form

Study: App More Accurate than Patient Evaluation of Stool Samples

Industry Guidance Report: Irritable Bowel Syndrome—Clinical Evaluation of Drugs

Artificial Intelligence-based Smartphone App for Characterizing Stool Form

AI Mobile App Improves on “Subjective” Patient-Reported Stool Assessment in IBS

Artificial Intelligence App Outperforms Patient-Reported Stool Assessments

Genomic Scientists Are Working to Make Human Reference Genome More Inclusive by Expanding the Pangenome

Project aims to create a new pangenome for genetic testing that will ensure better clinical laboratory testing and healthcare outcomes

Recent advances in genetics are motivating some scientists to proclaim the need to update the existing “master human genome”—currently based on a single individual’s genetic sequence—to make it more inclusive. This international research effort will have implications for personalized clinical laboratory testing and precision medicine.

Genetic scientists at the Human Pangenome Reference Consortium (HPRC), a project funded by the National Human Genome Research Institute (NHGRI), are working “to sequence and assemble genomes from individuals from diverse populations in order to better represent [the] genomic landscape of diverse human populations,” according to the organization’s website.

The project plans to evaluate a wide variety of reference genomes and develop a more diverse human pangenome (a multi-genome reference sequence) that will contain a larger cross-section of the human population. The HPRC scientists will be looking at genomes from specific countries, including Denmark, Japan, South Korea, Sweden, and the United Arab Emirates, The Guardian reported.

The increased diversity of reference genetic data will enable genomic researchers to increase the accuracy of precision medicine diagnostics and clinical laboratory testing.

Pui-Yan Kwok, MD, PhD

“One person is not representative of the world,” Pui-Yan Kwok, MD, PhD (above), Henry Bachrach Distinguished Professor, Cardiovascular Research Institute at the University of California, San Francisco, told The Guardian. “As a result, most genome sequencing is fundamentally biased.” And that bias, the researchers claim, affects the accuracy of clinical laboratory treatments and diagnostics. (Photo copyright: UCSF.)

Reference Genome for Genetic Sequencing is Based on One Person

Launched in 1990, The Human Genome Project studied all DNA in a select set of organisms. The project completed its first sequence of the human genome in 2003, which became the reference genome for thousands of genomic discoveries since then.

But there’s a problem.

Although a revolutionary breakthrough in genetic sequencing, that reference genome came from just one person. This means a significant portion of the human population is not represented in genetic research, and that bias, according to some scientists, “limits the kind of genetic variation that can be detected, leaving some patients without diagnoses and potentially without proper treatment,” according to The Guardian.

“Getting the right medicine to the right patient at the right time is the tagline,” Neil Hanchard, MD, DPhil, physician scientist and senior investigator for precision health research at the NHGRI in Bethesda, Maryland, told The Guardian.

The HPRC’s goal is to help mitigate reference biases that could hamper disease diagnoses and ensure all populations receive the best treatments for illness. 

According to its website, the organization’s main purpose includes:

  • Gene sequencing from a diverse set of samples with the newest technologies.
  • Fostering an ecosystem of assembly and pangenome tools.
  • Creating and releasing high-quality assemblies and pangenomes.
  • Embedding a team of scholars to address ethical, legal, and social implications of their work.
  • Forming international partnerships for the research.

HPRC Scientists Find Never-Sequenced Genetic Variants in Africa

Standard gene sequencing works by dividing DNA into tiny portions known as short reads, then sequencing and organizing the reads into a genome using an existing reference as a guide. However, this process renders larger blocks of variants, called structural variants (SVs), more difficult to read or even remain undetected, which can translate to a sequence that does not completely represent personal variations.

In 2019, the HPRC team of scientists analyzed genetic samples from 154 people from various parts of the world and discovered SV content that was missing from their reference sequence. A further study of genetic samples from 338 individuals that examined only extra inserted DNA detected the presence of almost 130,000 new sequences.

More recently, the HPRC researchers sampled 426 individuals from 50 ethnolinguistic groups from Africa and discovered a few million new single nucleotide variants (SNVs). Most of these distinct SNVs derived from populations that had not been previously sampled.

“We haven’t even touched SVs,” Hanchard told The Guardian. “But our preliminary data suggests it’s going to be more of the same.”

If an individual “is from a population quite different from the person from which the genome referenced is derived, there will be more misalignment when their short reads are mapped to the reference,” Pui-Yan Kwok, MD, PhD, Henry Bachrach Distinguished Professor, Cardiovascular Research Institute at the University of California, San Francisco, told The Guardian

“We may miss risk variants in those regions not represented in the reference,” he added.

HPRC Receives Clearance from NHGRI to Continue Research

Hanchard recognizes the benefits of regional references in genomic sequencing and is optimistic about the future of genomics and the ability to sequence more diverse populations.

“I would love to get to a point where everyone feels represented and that this is for them, as much as it is for any particular group,” he told The Guardian. “We are from one humanity, that’s the important part.”

On February 13, the HPRC received concept clearance for renewal of the program from the NHGRI, which plans to commit up to $10 million in total costs per year for the program over the next five years.

Genetic sequencing continues to emerge as a vital tool in the diagnoses and treatment of diseases. Ensuring that as many diverse populations as possible are included in genomic research is an important element for precision medicine and optimal healthcare.

Clinical laboratory managers and pathologists will want to stay updated on these developments, because much of this new knowledge about the pangenome will need to be incorporated when interpreting genetic sequences and developing diagnoses in support of personalized medicine.   

JP Schlingman

Related Information:

The Human Genome Needs Updating. But How Do We Make It Fair?

The Human Pangenome Project: A Global Resource to Map Genomic Diversity

Human Genome Project Fact Sheet

National Advisory Council for Human Genome Research (NACHGR)

Two New York City Hospitals Join New Genetic Study to Perform Whole Genome Sequencing on 100,000 Newborn Babies to Search for 250 Rare Diseases

Global Consortium of Scientists Develop New Whole Genome Sequencing Method That Brings Costs Down to $10 per Genome

US National Institutes of Health All-of-Us Research Program Delivering Genetic Test Results and Personalized Disease Risk Assessments to 155,000 Study Participants

NIH program could lead to new diagnostic biomarkers for clinical laboratory tests across a more diverse segment of US population

In another milestone in the US National Institutes of Health’s (NIH) plan to gather diverse genetic information from one million US citizens and then use that data to inform clinical care in ways consistent with Precision Medicine, the NIH’s All-of-Us Research Program announced in a news release it has “begun returning personalized health-related DNA results” to more than 155,000 study participants.

In addition, those participants who request them will receive genetic reports that detail whether they “have an increased risk for specific health conditions and how their body might process certain medications.”

The All-of-Us program, which began enrolling people in 2018, is one of the world’s largest—if not the largest—project of its kind. It could result in more than a million human whole genome sequences to drive medical research and speed discoveries. Study findings, for example, may produce new biomarkers for clinical laboratory tests and diagnostics.

In 2020, the All-of-Us program “had begun releasing genetic results for ancestry and a small number of nonclinical genetic traits,” according to GenomeWeb. Now, the program is taking on the greater challenge of sharing health-related genetic test results directly with its participants.

“We really wanted to make sure that we are providing a responsible return to our participants,” Anastasia Wise, PhD, All-of-Us Program Director for the Genetic Counseling Resource, told GenomeWeb. “They might get information that’s unexpected,” she explained.

So far, about 10,000 people received the NIH’s invitation and 56% have shown interest in receiving their genetic test results, GenomeWeb noted.

Josh Denny, MD

“Knowledge is powerful,” said Josh Denny, MD (above), Chief Executive Officer, NIH All-of-Us Research Program, in an NIH news release. “By returning health-related DNA information to participants, we are changing the research paradigm, turning it into a two-way street—fueling both scientific and personal discovery that could help individuals navigate their own health,” he added. The NIH’s research could lead to new clinical laboratory precision medicine diagnostics for chronic diseases across a more diverse segment of the US population. (Photo copyright: National Institutes of Health.)

Two Types of Genetic Health Reports

Study participants who provided a blood sample and gave their consent to receiving genomic information may also receive a Hereditary Disease Risk report that includes 59 genes and genetic variants linked to serious and “medically actionable” health conditions.

About 3% to 5% of participants will have findings suggesting a high risk for a genetic disease such as breast and ovarian cancers as indicated by BRCA1 and BRCA2 genes, Medical Xpress reported.

“I kind of shudder to think about what could happen if I hadn’t known this [finding that she has the BRCA2 gene],” said Rachele Peterson, All-of-Us Chief of Staff, who spoke to the Associated Press about her receiving own Hereditary Disease Risk report.

Participants can also choose to receive an All-of-Us Medicine and Your DNA report with insights on seven genes that affect how specific medications are metabolized. This pharmacogenetics report is important for those who could learn, for example, that they have a 50% to 60% greater risk of a second heart attack when they continue to take the standard medication, as opposed to a different medication, Medical Xpress noted.

“The information on metabolizing medication can be particularly important for people who need treatment after a heart attack,” Josh Denny, MD, Chief Executive Officer, NIH All-of-Us Research Program, told Medical Xpress.

“Such transparency of genetic information about a massive group—as well as the genetic information on individuals—can be used to improve patient care and clinical outcomes,” said Robert Michel, Editor-in-Chief of Dark Daily and its sister publication The Dark Report.

“The program provides a roadmap for other healthcare organizations to follow. And this is useful strategic knowledge for clinical laboratory leaders to understand and incorporate into their plans to support precision medicine with genetic testing and whole human genome sequencing,” Michel added.

Rich Genetic Data Across a More Diverse Population

As to its goal to reflect national diversity, NIH reported about 80% of All-of-Us participants reside in communities that have been unrepresented in medical research, and that 50% are part of a racial or ethnic minority group.

In “NIH’s All-of-Us Research Program Offers Free Genetic Testing to Increase Diversity of Its Database,” Dark Daily reported on the NIH’s strategy to increase diversity of its All-of-Us database. At that time, 386,000 people were enrolled with 278,000 consenting to all program steps such as completing surveys, sharing electronic health records (EHR), and giving blood and urine samples. The All-of-Us Research Program has reportedly grown to 560,000 enrollees. 

Another large-scale research program aiming for one million whole genome sequences is the VA’s Million Veteran Program (MVP), which, as Dark Daily noted in “US Department of Veterans Affairs’ Million Veterans Program Receives Its 125,000th Whole Human Genome Sequence from Personalis Inc.,” provides researchers with a rich resource of genetic, health, lifestyle, and military-exposure data collected from questionnaires, medical records, and genetic analyses.

By combining this information into a single database, the MVP promises to advance knowledge about the complex links between genes and health, according to an MVP news release.

Researchers tapping All-of-Us and MVP data may ultimately produce enlightening and impactful study findings, which could enable clinical laboratories to perform new diagnostic precision medicine tests that identify diseases early and save lives.       

Donna Marie Pocius

Related Information:

All-of-Us Research Program Returns Genetic Health-Related Results to Participants

NIU All-of-Us Program Returns First Health-Related Genetic Results to Participants

The All-of-Us Research Program Has analyzed the Results of 155,000 Americans. The Results Are Coming In

Huge US Study Starts Sharing Gene Findings with Participants

NIH’s All-of-Us Study Hits New Milestone: Largest Scale Effort to Provide DNA Results

NIH’s All-of-Us Research Program Returns Health-Related DNA Results to Participants

Department of Veterans Affairs Million Veterans Program Receives Its 125,000 Whole Human Genome Sequence from Personalis, Inc.

NIH’s All-of-Us Research Program Offers Free Genetic Testing to Increase Diversity of Its Database

23andMe Genetic Testing Helps Reunite Texas Woman with Her Family after Being Abducted in 1971 as a Toddler

Clinical laboratory scientist who aided in the investigation compared DNA test results with publicly available genetic information

In an interesting twist in the solving of crime, genetic test results—along with help from a clinical laboratory scientist (CLS) turned amateur genealogist—guided relatives of Melissa Highsmith to her whereabouts after she was allegedly kidnapped as a toddler over half a century ago. According to The Guardian, the CLS helped locate Melissa by “interpreting the key DNA results and mining publicly available records.”

Highsmith’s abduction was one of the oldest missing person cases in the country and demonstrates how clinical laboratory skills can be applied outside the laboratory to help solve other problems—in this case, helping a family search for a kidnapped daughter—using genetic testing technologies that until recently were not available to the general public.

Melissa Highsmith

Thanks to a 23andMe at-home DNA test—and a tenacious clinical laboratory scientist/amateur genealogist—Melissa Highsmith (shown above at time of kidnapping and today) has been reunited with her birth family. This shows how genetic testing is being used in remarkable ways outside of the clinical laboratory. (Photo copyright: Highsmith family/People.) 

Thanksgiving Reunion

Back in 1971, Melissa’s mother, Alta Apantenco, placed an advertisement in a local newspaper in Fort Worth, Texas, to hire a babysitter to care for her 21-month-old daughter. Apantenco hired Ruth Johnson to babysit her daughter without meeting the woman in person. Because Apantenco had to be at work, the child was handed over to Johnson by Apantenco’s roommate. The babysitter then allegedly abducted Melissa and disappeared with her.

Melissa’s family reported her missing to the police and searched for the snatched baby for more than 51 years. The family even organized a Facebook page called “Finding Melissa Highsmith” and sought outside assistance from the National Center for Missing and Exploited Children (NCMEC) in locating their lost relative, according to the New York Post.

The police and the FBI also got involved in the case, but few leads emerged over the decades.

Then, in September of 2022, Melissa’s family received a new lead regarding her location based on her father’s 23andMe DNA test results. Those results, along with a birthmark and date of birth, confirmed that Melissa was alive and well and residing in the Charleston, South Carolina area.

Over Thanksgiving weekend, Melissa was reunited with her mother, her father Jeffrie Highsmith, and two of her four siblings at a church in Fort Worth. She hopes to meet her remaining two siblings over the Christmas holidays.

“I can’t describe my feelings. I’m so happy to see my daughter that I didn’t ever think I would see again,” Apantenco told Saint Paul, Minnesota, television station KSTP.

“I couldn’t stop crying,” said Melissa’s sister Victoria Garner in a family statement. “I was overjoyed, and I’m still walking around in a fog trying to comprehend that my sister [was] right in front of me and that we found her,” The Guardian reported.

Clinical Laboratory Scientist Aids in the Investigation

The 23andMe test results alerted the family to the existence of a few unknown relatives that could be connected to the DNA of Melissa’s father. The family then contacted a genealogist and clinical laboratory scientist from Minnesota named Lisa Jo Schiele to help them interpret the results and potentially locate the missing woman. Schiele compared the DNA results with public records to help find Melissa Highsmith. 

“I was able to use what we call traditional genealogy to find marriage records and things like that to find where Melissa was right now,” Schiele told KSTP. “At first glance, you look at these matches, but I’m like, ‘Holy cow, is this too good to be true?’ I’m very happy to help them navigate all of this.”

One of Melissa’s sisters, Sharon Highsmith, stated that her mother experienced deep feelings of guilt after Melissa’s abduction and had even faced accusations that she had something to do with the disappearance of her daughter. 

“My mom did the best she could with the limited resources she had. She couldn’t risk getting fired, so she trusted the person who said they’d care for her child,” Sharon said in a family statement. “I’m grateful we have vindication for my mom,” The Guardian reported.

“I keep having to pinch myself to make sure I’m awake,” Melissa, who now resides in Fort Worth, told KSTP.

“It’s a miracle,” Apantenco said.

“A Christmas miracle,” Melissa added.

Due to the statute of limitations, which expired 20 years after Melissa turned 18, the babysitter who allegedly took Melissa cannot be criminally prosecuted.

“I’m angry our family was robbed for 51 years,’’ Melissa told Fort Worth news station WFAA

This remarkable story illustrates how clinical laboratory skills combined with genetic testing results can be used outside of medical laboratory testing purposes to aid in solving criminal cases and other mysteries involving missing people.

Further advances in DNA testing combined with genetic databases that include DNA from greater numbers of people could result in more reunions involving missing persons who were identified because of genetic matching.

JP Schlingman

Related Information:

I Was Kidnapped by My Babysitter 51 Years Ago—and Finally Reunited with My Family

Texas Woman Found by Family 51 Years After Being Kidnapped as Baby

Minnesota Genealogist Helps Reunite Texas Family with Daughter After 51 Years

Fort Worth Woman, Who Was Reunited with Family After 51 Years, Forgives Person She Says Kidnapped Her

Texas Toddler Was Kidnapped 51 Years Ago by Babysitter. She Just Reunited with Her Family

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