Should their research result in new ways to identify and diagnose disease, doctors and clinical laboratories would do confirmatory testing and then initiate a precision medicine plan.
Dan Roden, MD, Senior Vice President for Personalized Medicine at VUMC and Senior Author of the Circulation study, said in a VUMC news release that the findings support the growing use of genetic information in clinical care.
“The questions we asked were: How many people who had no previous indication for cardiac genetic testing had pathogenic or likely pathogenic variants, and how many of those people actually had a phenotype in the electronic health records?” he explained.
Arrhythmia More Common than Previously Thought
The VUMC researchers drew data for their reports from the eMERGE Phase III study, which investigated the feasibility of population genomic screening by sequencing 109 genes across the spectrum of Mendelian diseases—genetic diseases that are caused by a mutation in a single gene—in more than 20,000 individuals. The scientists returned variant results to the participants and used EHR and follow-up clinical data to ascertain patient phenotypes, according to a Northwestern University Feinberg School of Medicine news release.
The research team looked specifically at the 120 consortium participants that had disease-associated pathogenic or likely pathogenic (P/LP) variants in the arrhythmia-associated genes. An analysis of the EHR data showed that 0.6% of the studied population had a variant that increases risk for potentially life-threatening arrhythmia, and that there was overrepresentation of arrhythmia phenotypes among patients, the VUMC news release noted.
The research team returned results to 54 participants and, with clinical follow-up, made 19 diagnoses (primarily long-QT syndrome) of inherited arrhythmia syndromes. Twelve of those 19 diagnoses were made only after variant results were returned, the study’s authors wrote.
Carlos G. Vanoye, PhD, Research Associate Professor of Pharmacology at Northwestern University (NU), said the study suggests arrhythmia genes may be more common than previously thought.
“A person can carry a disease-causing gene variant but exhibit no obvious signs or symptoms of the disease,” he said in the NU news release. “Because the genes we studied are associated with sudden death, which may have no warning signs, discovery of a potentially life-threatening arrhythmia gene variant can prompt additional clinical work-up to determine risks and guide preventive therapies.”
“The take-home message is that 3% of people will carry a pathogenic or likely pathogenic variant in a disease-causing gene and many others will carry variants of uncertain significance,” said Dan Roden, MD (above), Senior Vice President for Personalized Medicine at VUMC and Senior Author of the Circulation study in the VUMC news release. “We can use genetic testing, electronic health record phenotypes, and in vitro technologies to evaluate and find people who have unrecognized genetic disease and save lives by making earlier diagnoses.” Clinical laboratories will play a key role in making those early diagnoses and in managing personalized medical treatment plans. (Photo copyright: Vanderbilt University.)
Variants of Uncertain Significance
According to the NU news release, the scientists determined the functional consequences of the variants of uncertain significance they found and used that data to refine the assessment of pathogenicity. In the end, they reclassified 11 of the variants: three that were likely benign and eight that were likely pathogenic.
In the JAMA Oncology study, the VUMC scientists and other researchers conducted a phenome-wide association study to find EHR phenotypes associated with variants in 23 hereditary cancer genes. According to the VUMC news release, they identified 19 new associations:
The VUMC study findings could improve disease diagnosis and management for cancer patients and help identify high-risk individuals, the researchers noted in their published report.
In an editorial published in Circulation, titled, “First Steps of Population Genomic Medicine in the Arrhythmia World: Pros and Cons,” the professors noted that using genomic information in the case of potentially lethal inherited arrhythmia syndromes could be “lifesaving,” but questioned the benefits of reporting such secondary findings when patients are undergoing genome sequencing for other indications such as cancer.
“The likelihood that these ‘genetic diagnoses’ are translated into clinical diagnoses have not been completely evaluated,” they wrote. “In addition to the challenge of accurately identifying disease-causing genetic variants, defining the penetrance of such variants is critical to this process, i.e., what proportion of individuals in the general population with apparently pathogenic variants will develop the associated phenotype? If penetrance is low for particular gene/phenotype combinations, the costs associated with clinical screening and the psychological effects on individuals informed that they have potentially life-threatening variants may outweigh the benefits of the few new clinical diagnoses.”
These latest studies provide further evidence of the value of big data in healthcare and offer another lesson to clinical laboratories and pathologist about the future role data streaming from clinical laboratories and pathology assays may have in the growth of personalized medicine.
Gottlieb will speak about the state of AI in healthcare at the event May 11-12
Medical technicians in clinical laboratories and pathology groups may worry that artificial intelligence (AI) will eventually put them out of their jobs.
However, that’s not likely to be the case, according to former Food and Drug Administration (FDA) Commissioner Scott Gottlieb. He was just announced as a top speaker at the Artificial Intelligence in Healthcare and Diagnostics (AIHD) Conference, which takes place May 10-11 in San Jose, Calif.
Instead, expect AI in healthcare to help labs better aggregate and analyze an ever-growing repository of clinical data.
“As we start to digitize more of this information, build out bigger repositories, and correlate more of this information with experimental evidence that’s also captured digitally, it’s going to become an immensely powerful tool,” Gottlieb said during a 2021 webinar hosted by Proscia, which develops pathology software embedded with AI.
Former FDA Commissioner Scott Gottlieb said AI in healthcare will “become an immensely powerful tool.” (Photo courtesy of: Worldwide Speakers Group)
“[AI is] going to be a predictive tool,” he continued. “So, now you start to think about digital data from traditional pathology, digital data from characterizing tumors to sequencing, alongside digital data capture through electronic health records. And you start to have a really powerful, robust set of information.”
Writing for MobiHealthNews last year, Liz Kwo, MD, also noted the potential of AI to deal with unstructured data—in other words, information that is not in a pre-set data model and thus difficult to analyze.
“In many cases, health data and medical records of patients are stored as complicated unstructured data, which makes it difficult to interpret and access,” wrote Kwo, who is Deputy Chief Clinical Officer at insurer Anthem and Faculty Lecturer at Harvard Medical School.
“AI can seek, collect, store, and standardize medical data regardless of the format, assisting repetitive tasks and supporting clinicians with fast, accurate, tailored treatment plans and medicine for their patients instead of being buried under the weight of searching, identifying, collecting and transcribing the solutions they need from piles of paper formatted EHRs,” she added.
AIHD conference to explore the state of artificial intelligence in healthcare
At AIHD, Gottlieb will take part in a fireside chat and also contribute to a panel discussion with other keynote speakers.
“There’s no better individual than Dr. Gottlieb to address AIHD participants about the state of artificial intelligence, where it’s going, how it’s regulatory oversight will unfold, and what’s likely to be the most surprising contribution of AI in patient care,” said Robert Michel, founder of AIHD, Executive Director of the Precision Medicine Institute, and Editor-in-Chief of clinical lab intelligence publication The Dark Report.
The event will bring together senior-level representatives from AI companies, hospitals, physician offices, and diagnostic providers.
Gottlieb promoted greater use of digital tools for clinicians
“I can envision a world where, one day, artificial intelligence can help detect and treat challenging health problems, for example by recognizing the signs of disease well in advance of what we can do today,” Gottlieb stated at the time. “These tools can provide more time for intervention, identifying effective therapies and ultimately saving lives.”
During and after his tenure at the FDA, he has been a prolific commentator about the SARS-CoV-2 pandemic and steps public health agencies have taken to curb COVID-19.
Gottlieb is currently a Senior Fellow at the American Enterprise Institute, a public policy think tank. He is also partner at venture capital firm New Enterprise Associates and serves on the boards of Pfizer and Illumina.
Medical laboratories and anatomic pathologists may need to squeeze into narrow networks to be paid under value-based schemes, especially where Medicare Advantage is concerned
Pathologists have likely heard the arguments in favor of value-based payment versus fee-for-service (FFS) reimbursement models: FFS encourages providers to order medically unnecessary procedures and lab tests. FFS removes incentives for providers to order patient services more carefully. Fraudsters can generate huge volumes of FFS claims that take payers months/years to recognize and stop.
Studies that favor value-based payment schemes support these claims. But do hospitals and other healthcare providers also accept them? And how is value-based reimbursement really doing?
To find out, Chicago-based thought leadership and advisory company 4Sight Health culled data from various organizations’ reports that suggest value-based reimbursement shows signs of growth as well as signs of stagnation.
Value-Based Payment Has Its Ups and Downs
Healthcare journalist David Burda is News Editor and Columnist at 4Sight Health. In his article, “Is Value-Based Reimbursement Mostly Dead or Slightly Alive?” Burda commented on data from various industry reports that indicated value-based reimbursement shows “signs of life.” For example:
More doctors are accepting pay-for-performance payments: 44.5% in 2020, up from 42.3% in 2018, according to an American Medical Association (AMA) biennial report on physician participation in value-based reimbursement, titled, “Policy Research Perspectives: Payment and Delivery in 2020.”
On the other hand, Burda reported that value-based reimbursement also has these declining indicators:
39.3% of provider payments “flowed” through FFS plans in 2020 with no link to cost or quality. This was unchanged since 2019. (HCPLAN report)
19.8% of FFS payments to providers in 2020 were linked to cost or quality, down from 22.5% in 2019. (HCPLAN report)
88% of doctors reported accepting FFS payments in 2019, an increase from 87% in 2018. (AMA report)
Does Today’s Healthcare Industry Support Value-based Care?
A survey of 680 physicians conducted by the Deloitte Center for Health Solutions suggests the answer could be “not yet.” In “Equipping Physicians for Value-Based Care,” Deloitte reported:
“Physician compensation continues to emphasize volume more than value.
“Availability and use of data-driven tools to support physicians in practicing value-based care continue to lag.
“Existing care models do not support value-based care.”
Deloitte analysts wrote, “Physicians increasingly recognize their role in improving the affordability of care. We repeated a question we asked six years ago and saw a large increase in the proportion of physicians who say they have a prominent role in limiting the use of unnecessary treatments and tests: 76% in 2020 vs. 57% in 2014.
“Physicians also recognize that today’s care models are not geared toward value,” Deloitte continued. “They see many untapped opportunities for improving quality and efficiency. They estimate that even today, sizable portions of their work can be performed by nonphysicians (30%) in nontraditional settings (30%) and/or can be automated (18%), creating opportunities for multidisciplinary care teams and clinicians to work at the top of their license.”
Hospital CFOs Also See Opportunities for Value-based Care
This could be problematic for clinical laboratories, according to Robert Michel, Editor-in-Chief of Dark Daily and our sister publication The Dark Report. According to Guidehouse, “Nearly 60% of health systems plan to advance into risk-based Medicare Advantage models in 2022.”
Medicare Advantage (MA) enrollments have escalated over 10 years: 26.4 million people of the 62.7 million eligible for Medicare chose MA in 2021, noted a Kaiser Family Foundation brief that also noted MA enrollment in 2021 was up by 2.4 million beneficiaries or 10% over 2020.
The graph above is taken from the Kaiser Family Foundation report, “Medicare Advantage in 2021: Enrollment Update and Key Trends.” According to the KFF, “In 2021, more than four in 10 (42%) Medicare beneficiaries—26.4 million people out of 62.7 million Medicare beneficiaries overall—are enrolled in Medicare Advantage plans; this share has steadily increased over time since the early 2000s.” Since MA employs narrow networks for its healthcare providers, it’s likely this trend will continue to affect clinical laboratories that may find it difficult to access these providers. (Graphic copyright: Kaiser Family Foundation.)
“The shift from Medicare Part B—where any lab can bill Medicare on behalf of patients for doctor visits and outpatient care, including lab tests—to Medicare Advantage is a serious financial threat for smaller and regional labs that do a lot of Medicare Part B testing. The Medicare Advantage plans often have networks that exclude all but a handful of clinical laboratories as contracted providers,” Michel cautioned. “Moving into the future, it’s incumbent on regional and smaller clinical laboratories to develop value-added services that solve health plans’ pain points and encourage insurers to include local labs in their networks.”
Medical laboratories and anatomic pathology groups need to be aware of this trend. Michel says value-based care programs call on clinical laboratories to collaborate with healthcare partners toward goals of closing care gaps.
“Physicians and hospitals in a value-based environment need a different level of service and professional consultation from the lab and pathology group because they are being incented to detect disease earlier and be active in managing patients with chronic conditions to keep them healthy and out of the hospital,” he added.
Value-based reimbursement may eventually replace fee-for-service contracts. The change, however, is slow and clinical laboratories should monitor for opportunities and potential pitfalls the new payment arrangements might bring.
Survey shows more than 50% of hospitals and health systems plan to increase virtual care services within two years, a development that can change how patients access clinical laboratory testing services
If anything positive came out of the COVID-19 pandemic, it’s the growing acceptance by physicians and health payers of telehealth—including telepathology, teleradiology, and other types of virtual doctor visits—as a way for patients to meet with their physicians in place of in-office healthcare.
In earlier coverage about the rapid adoption of telehealth and virtual doctor visits, Dark Daily has observed that this trend creates a unique challenge for clinical laboratories. If the patient has a virtual consultation with his or her physician, how would a clinical laboratory get access to this patient to do a venipuncture and collect the samples necessary to perform the medical laboratory tests ordered by the physician?
Nevertheless, according to multiple reports, healthcare providers are planning to increase investment in telehealth technologies.
Disparate Technologies Led to Technical Difficulties for Virtual Healthcare Providers
The terms telemedicine and telehealth are often used interchangeably. However, according to the American Academy of Family Physicians (AAFP), there are subtle differences worth noting.
Telehealth is a broad term which refers to “electronic and telecommunications technologies and services used to provide care and services at-a-distance [while] telemedicine is the practice of medicine using technology to deliver care at a distance.
“Telehealth is different from telemedicine in that it refers to a broader scope of remote health care services than telemedicine. Telemedicine refers specifically to remote clinical services, while telehealth can refer to remote non-clinical services,” the AAFP notes.
Kelly Lewis, former Vice President of Revenue Strategy and Enablement at telehealth provider Amwell, told Healthcare IT News (HIT News) that “the COVID-19 pandemic caused telehealth adoption to skyrocket.
However, “Because much of this adoption was driven out of an abundance of necessity, there was little time for organizations to think strategically about their technology investments,” she added.
“With urgency at a high, payers, provider organizations and clinicians all turned to the quickest options available so patients could continue to get care. The result, however, was what we are calling platform ‘sprawl’—the use of a number of disparate solutions that are leading to a confusing and frustrating care delivery system and experience.”
Nevertheless, according to a survey conducted by HIT News and HIMSS Analytics, “More than half (56%) of hospital and health system leaders say they are planning to increase their investment in telemedicine during the next two years.” This, “shows that the huge surge in and mainstreaming of telehealth during the ongoing pandemic has caused the C-suite and other healthcare leaders to embrace the technology that has for so long existed on the periphery of medicine,” HIT News noted.
“The clear message is that telehealth is here to stay and will continue to expand,” Lewis told HIT News, adding, “The majority of payers without virtual care offerings also reported planning to add them in the next 24 months.”
“Clinicians agree that moving toward a fully integrated telehealth platform would be beneficial. More than 80% believe investing in a fully integrated virtual or hybrid care system would have a positive impact on clinical outcomes and patient experiences,” Kelly Lewis (above), former VP at telehealth provider Amwell, told Healthcare IT News. Considering the growing demand for telehealth, pathologists and clinical laboratories will need a strategy for supporting virtual healthcare providers. (Photo copyright: Healthcare IT News.)
The HIT News/HIMSS Analytics survey findings suggest telehealth will transition as providers aim for “smart-growth” instead of “pandemic-fueled expediency,” Becker’s Hospital Review reported.
Survey respondents expressed positive attitudes about telehealth:
56% of healthcare leaders plan to increase investment in virtual care over the next two years.
80% of respondents noted “very” or “extremely” important telehealth factors are integrating with existing workflows, fast video connections, and reducing administrative burden.
77% called telehealth platform integration with the electronic health record (EHR) “very” or “extremely” important.
80% envision positive clinical outcomes and patient experiences from a fully integrated telemedicine platform.
75% of payers said a single digital platform has potential to streamline member experiences.
“With telehealth visits stabilizing at roughly 10 times pre-pandemic levels, digital transformation initiatives are rising across the field. As a result of the pandemic, 60% of healthcare organizations are adding new digital projects, with telemedicine becoming a higher priority for 75% of executives (vs. 42% in 2019) to improve the patient experience,” the AHA reported.
Medical laboratories and anatomic pathology groups are advised to keep pace with the changing healthcare landscape which increasingly puts a premium on remote and virtual visits. This has become even more critical as healthcare providers and investors infuse more capital into telehealth technology.
As physicians expand telemedicine virtual office visits post-pandemic, a clinical laboratory strategy to reach patients and acquire specimens will be required.
Faulkner was surpassed on Forbes’ list only by roofing material magnate Diane Hendricks, co-founder of ABC Supply Co., whose net worth of $11 billion puts her squarely in the top spot.
Richest Self-Made Women in Healthcare
Becker’s Hospital Review highlighted the seven richest “self-made” women who ran healthcare-related companies. They include:
Judith Faulkner, founder and CEO of Epic, ranked 2nd, net worth $6.5 billion.
Alice Schwartz, co-founder of Bio-Rad Laboratories, ranked 10th, net worth $2.9 billion.
Heather Hasson and Trina Spear, co-founders and co-CEOs of FIGS (direct-to-consumer healthcare apparel and scrubs), ranked 50th and 52nd, net worth $625 million and $600 million respectively.
Also listed by Forbes was Anne Wojcicki, CEO and founder of 23andMe, a personal genomics and biotechnology company. Wojcicki’s net worth of $1.1 billion puts her in the 25th position, according to Forbes.
In “Genetic Test Company 23andMe Completes Merger with Richard Branson’s VG Acquisition Corp., Stock Now Trades on NASDAQ,” Dark Daily noted that since the Sunnyvale, Calif. direct-to-consumer (DTC) genetic testing company will now be filing quarterly earnings reports, pathologists and clinical laboratory managers will have the opportunity to learn more about how 23andMe serves the consumer market for genetic types and how it is generating revenue from its huge database containing the genetic sequences from millions of people.
Judith Faulkner (left), founder and CEO of Epic Systems Corp., and Alice Schwartz (right), co-founder of Bio-Rad Laboratories, ranked 2nd and 10th respectively in Forbes’ list of the top 100 richest self-made women. In healthcare, Faulkner ranks 1st and Schwartz 2nd. Clinical laboratory personnel will likely be familiar with Epic Beaker, which, according to Healthcare IT Leaders, “is Epic’s laboratory information system (LIS) for hospitals, clinics, patient service centers, and reference labs. The software supports common workflows for clinical pathology (CP) labs as well as anatomic pathology (AP) labs.” (Photo copyrights: HIT Consultant/Science History Institute.)
“I always liked making things out of clay. And the computer was clay of the mind. Instead of physical, it was mental,” Faulkner, who is 77, told Forbes.
Company milestones noted by Forbes include:
Inking a deal in 2004 with Kaiser Permanente for a three-year, $400-million project.
Moving in 2005 to a corporate campus in southern Wisconsin—an “adult Disney World” with the largest underground auditoriums and more “fantastical” buildings.
More recently, AdventHealth of Altamonte Springs, Fla., contracted with Epic for a $650 million remote build and installation.
“Epic’s system has tentacles that go out through amazing networks. You can actually help a person get the care they need wherever they need to get it,” AdventHealth’s CEO Terry Shaw told Forbes.
“I think that what will happen is that a few of them will do very well. And the majority of them won’t. “It’s not us as much as the health systems who have to respond to the patient saying, ‘Send my data here,’ or ‘Send my data there,’” Faulkner told Forbes.
Bio-Rad’s Alice Schwartz an IVD ‘Pioneer’
As Faulkner rose to prominence in healthcare IT, Alice Schwartz of Bio-Rad Laboratories found massive success in the in vitro diagnostics industry.
She and her late husband, David, started Bio-Rad with $720 in 1952 in Berkeley, Calif. They were intent on offering life science products and services aimed at identifying, separating, purifying, and analyzing chemical and biological materials, notes the company’s website.
“They were at the right place and at the right time as they became pioneers in the industry,” International Business Times (IBT) stated.
Bio-Rad Laboratories (NYSE:BIO and BIOb) of Hercules, Calif., offers life science research and clinical diagnostic products. The company’s second quarter (Q2) 2021 net sales were $715.9 million, an increase of about 33% compared to $536.9 million in Q2 2020, according to a news release. Its Clinical Diagnostics segment Q2 sales were $380 million, an increase of 34% compared to 2020.
Norman Schwartz, the founders’ son, is Bio-Rad’s Chairman of the Board,
President, and CEO. However, at age 94, Alice Schwartz, the oldest person on Forbes’ richest self-made women list, “has no sign of stopping soon,” IBT reported.
Lists are fun. Medical laboratory and diagnostics professionals may admire such foresight and perseverance. Judith Faulkner and Alice Schwartz are extraordinary examples of innovative thinkers in healthcare. There are others—many in clinical laboratories and pathology groups.
