The resulting genomic dataset may provide useful diagnostic insights that can be used by clinical laboratory and pathology professionals to learn how and why some people age with good health
Why do some seniors age in good health and other seniors
suffer with multiple chronic conditions? A new genetic database is using whole-genomic
sequencing (WGS) to answer that question in ways that may benefit medical
laboratories.
Because of the rapid aging of populations in the United
States and other developed nations throughout the world, there is keen interest
in how to keep seniors healthy. In fact, developing effective lab testing
services in support of improved senior health is one of the big opportunities
for both clinical laboratories and anatomic
pathology groups.
Until recent years, most clinical
pathologists dealt primarily with lab tests that used specimens such as blood
and urine. However, genetics researchers are using WGS to discover new causes
for many chronic illnesses. And the tools these researchers are developing offer
pathologists and clinical
laboratories powerful new ways to help doctors diagnose disease.
Through the use of WGS, the MGRB now features a huge
database of thousands of healthy elderly people. The data it contains may enable
pathology scientists to learn, from a genetic standpoint, why some people age
healthfully while others do not.
The researchers published their work titled, “The Medical
Genome Reference Bank: A Whole-Genome Data Resource of 4,000 Healthy Elderly
Individuals. Rationale and Cohort Design,” in the European Journal of
Human Genetics.
Finding New Applications for Genetic Data
According to the UNSW published study, “The MGRB is comprised
of individuals consented through the biobank programs of two contributing
studies … Each sample is from an individual who has lived to [greater than or
equal to] 70 years with no reported history or current diagnosis of
cardiovascular disease, dementia, or cancer, as confirmed by the participating
studies at recent follow-up study visits.”
The researchers noted in their paper, “Aged and healthy
populations are more likely to be selectively depleted of pathogenic alleles, and therefore
particularly suitable as a reference population for the major diseases of
clinical and public health importance.”
The MGRB plans to make its database openly accessible to the
international research community through its website once all 4,000 samples
have been sequenced. Currently, about 3,000 of the samples have been analyzed,
as noted on the Garvan website,
which is tracking the MGRB’s progress.
“The Medical Genome Reference Bank can tell us much about what it means to grow old but remain well, and is a powerful tool to help us deconstruct the genetics of common diseases,” said David Thomas, PhD (above), an NHMRC Principal Research Fellow, Director of The Kinghorn Cancer Center, and Head of the Cancer Division of the Garvan Institute in New South Wales, AU, in a statement reported by GenomeWeb. (Photo copyright: South West Sydney Research.)
Personal Genetic Data in Precision Medicine
“The integration of genomic knowledge and technologies into
healthcare is revolutionizing the way we approach clinical and public health
practice,” Caron
M. Molster, et al, noted in, “The Evolution of Public Health
Genomics: Exploring Its Past, Present, and Future,” published in Frontiers
in Public Health. Molster is Manager at the Health Department Western
Australia in Perth, and lead author of the paper.
“Public health genomics has evolved to responsibly integrate
advancements in genomics into the fields of personalized
medicine and public health,” the researchers wrote.
The 100,000
Genomes Project in the United Kingdom is sequencing the genomes of people
who have rare diseases and their families. Researchers all over the world are collecting
genomic data with plans to use it in different ways, and on various chronic
disease populations, in pursuit of precision medicine
goals.
Molster and her co-authors noted the comparable development
of genetic sequencing and precision medicine in their paper.
“Parallel to the developments in precision medicine has been
the advancement of technologies that enable the production, aggregation,
analysis, and dissemination of extremely large volumes of individual- and
population-level data on genes, environment, behavior, and other social and
economic determinants of health. These data have proven useful in finding new
correlations, patterns and trends, particularly those involving complex
interactions, in relation to diseases, pathogens, exposures, behaviors,
susceptibility (risk), and health outcomes in populations,” they wrote.
According to Paul Lacaze, PhD,
Head of the Public Health Genomics Program at Monash University, one of the
challenges in interpreting whole-genome data in order to diagnose disease is
“discriminating rare candidate disease-causing variants from the large numbers
of benign variants unique to each individual. Reference populations are
powerful filters,” he noted in the MGRB paper.
The MGRB database provides just such a powerful reference
population, giving researchers who are studying specific diseases a tool for
comparison.
Other Studies into Heathy Aging
Other initiatives to create datasets of genome information
for specific populations also are underway. The Scripps
Translational Science Institute (STSI) in La Jolla, Calif., has been
studying healthy aging since 2007. That’s when STSI launched the Wellderly Study,
according to a news
release. As of 2016, they had sequenced the genomes of 600 study
participants, as well as 511 samples for comparison from a study being conducted
separately by the Inova Translational Medicine Institute, a paper in Nature noted.
Another effort being conducted in China involves a database
called PGG.Population.
These researchers seek to “create a comprehensive depository of geographic and
ethnic variation of human genome, as well as a platform bringing influence on
future practitioners of medicine and clinical investigators,” according to
their 2018 paper published in Nucleic Acids
Research.
In this case, rather than identifying common genomic
variants among a specific population, such as the healthy elderly, the
researchers are working to understand how genetic variations are distributed
among specific populations. “The PGG.Population database documents 7,122
genomes representing 356 global populations from 107 countries and provides
essential information for researchers to understand human genomic diversity and
genetic ancestry,” wrote the researchers.
Each of these disparate datasets represents paths of
investigation that could lead to a better understanding of personal and public health.
As technologies continue to develop that enable scientists to sift through the
massive amount of WGS data being generated, a clearer picture of what healthy
aging at the genetic level looks like will likely emerge.
Precision medicine is leading to precision public health,
and clinical pathology laboratories are important parts of the public health
puzzle.
Future EHRs will focus on efficiency, machine learning, and cloud services—improving how physicians and medical laboratories interact with the systems to support precision medicine and streamlined workflows
When the next generation of electronic health record (EHR) systems reaches the market, they will have advanced features that include cloud-based services and the ability to collect data from and communicate with patients using mobile devices. These new developments will provide clinical laboratories and anatomic pathology groups with new opportunities to create value with their lab testing services.
Proposed Improvements and Key Trends
Experts with EHR developers Epic Systems, Allscripts, Accenture, and drchrono spoke recently with Healthcare IT News about future platform initiatives and trends they feel will shape their next generation of EHR offerings.
They include:
Automation analytics and human-centered designs for increased efficiency and to help reduce physician burnout;
Improved feature parity across mobile and computer EHR interfaces to provide patients, physicians, and medical laboratories with access to information across a range of technologies and locations;
A shift toward cloud-hosted EHR solutions with support for application programming interfaces (APIs) designed for specific healthcare facilities that reduce IT overhead and make EHR systems accessible to smaller practices and facilities.
Should these proposals move forward, future generations of EHR platforms could transform from simple data storage/retrieval systems into critical tools physicians and medical laboratories use to facilitate communications and support decision-making in real time.
And, cloud-based EHRs with access to clinical labs’ APIs could enable those laboratories to communicate with and receive data from EHR systems with greater efficiency. This would eliminate yet another bottleneck in the decision-making process, and help laboratories increase volumes and margins through reduced documentation and data management overhead.
Cloud-based EHRs and Potential Pitfalls
Cloud-based EHRs rely on cloud computing, where IT resources are shared among multiple entities over the Internet. Such EHRs are highly scalable and allow end users to save money by hiring third-party IT services, rather than maintaining expensive IT staff.
Kipp Webb, MD, provider practice lead and Chief Clinical Innovation Officer at Accenture told Healthcare IT News that several EHR vendors are only a few years out on releasing cloud-based inpatient/outpatient EHR systems capable of meeting the needs of full-service medical centers.
While such a system would mean existing health networks would not need private infrastructure and dedicate IT teams to manage EHR system operations, a major shift in how next-gen systems are deployed and maintained could lead to potential interoperability and data transmission concerns. At least in the short term.
Yet, the transition also could lead to improved flexibility and connectivity between health networks and data providers—such as clinical laboratories and pathologist groups. This would be achieved through application programming interfaces (APIs) that enable computer systems to talk to each other and exchange data much more efficiently.
“Perhaps one of the biggest ways having a fully cloud-based EHR will change the way we as an industry operate will be enabled API access.” Daniel Kivatinos, COO and founder of drchrono, told Healthcare IT News. “You will be able to add other partners into the mix that just weren’t available before when you have a local EHR install only.”
Paul Black, CEO of Allscripts, believes these changes will likely require more than upgrading existing software or hardware. “The industry needs an entirely new approach to the EHR,” he told Healthcare IT News. “We’re seeing a huge need for the EHR to be mobile, cloud-based, and comprehensive to streamline workflow and get smarter with every use.” (Photo copyright: Allscripts.)
Reducing Physician Burnout through Human-Centered Design
As Dark Daily reported last year, EHRs have been identified as contributing to physician burnout, increased dissatisfaction, and decreased face-to-face interactions with patients.
Combined with the increased automation, Carl Dvorak, President of Epic Systems, notes next-gen EHR changes hold the potential to streamline the communication of orders, laboratory testing data, and information relevant to patient care. They could help physicians reach treatment decisions faster and provide laboratories with more insight, so they can suggest appropriate testing pathways for each episode of care.
“[Automation analytics] holds the key to unlocking some of the secrets to physician well-being,” Dvorak told Healthcare IT News. “For example, we can avoid work being unnecessarily diverted to physicians when it could be better managed by others.”
Black echoes similar benefits, saying, “We believe using human-centered design will transform the way physicians experience and interact with technology, as well as improve provider wellness.”
Some might question the success of the first wave of EHR systems. Though primarily built to address healthcare reform requirements, these systems provided critical feedback and data to EHR developers focused not on simply fulfilling regulatory requirements, but on meeting the needs of patients and care providers as well.
If these next-generations systems can help improve the quality of data recording, storage, and transmission, while also reducing physician burnout, they will have come a long way from the early EHRs. For medical laboratory professionals, these changes will likely impact how orders are received and lab results are reported back to doctors in the future. Thus, it’s worth monitoring these developments.
While Apple recently debuted features to bring personal health records and protected health information to its mobile devices, Microsoft shuttered HealthVault in favor of focusing on AI-powered healthcare advances
As clinical laboratories and anatomic pathology groups know, lab testing data comprise more than 70% of the average patient’s health record. Thus, creating a universal platform on which consumers can share or review health information and medical histories with caregivers is a critical, yet elusive goal for most major tech companies, including tech giants Apple (Nasdaq:AAPL) and Microsoft (Nasdaq:MSFT).
Apple has big plans for patient health records and is working to bring protected health information (PHI) and healthcare advice to iPhones, iPads, and Apple Watch. Meanwhile, Microsoft is reducing its footprint in the mobile device healthcare market. Instead, it appears to be banking on its Artificial Intelligence (AI) platform. How these two diverging paths play out could have ramifications for the pathology and clinical laboratory industries.
HealthVault Insights versus AI versus Apple Health Mobile Apps
Launched in February 2017, Microsoft’s HealthVault Insights combined machine learning and AI with patients’ PHI and mobile activity tracking. The intent was to create an accessible, interactive platform for patients to monitor important health trends.
However, as of January 2018, Microsoft pulled the mobile app from Android, iOS, and Windows App stores. While summary information that draws on previously collected data is still available from the HealthVault website, new data and detailed insights are no longer available.
“We launched HealthVault Insights as a research project … with the goal of helping patients generate new insights about their health,” states Microsoft’s HealthVault Insights website. “Since then, we’ve learned a lot about how machine learning can be used to increase patient engagement and are now applying that knowledge to other projects.”
Shuttering HealthVault highlighted Microsoft’s shift away from consumer-facing health efforts and toward assisting medical laboratories, physicians, and research groups discover and implement treatments driving modern personalized medicine.
In a Microsoft blog post, Peter Lee, Corporate VP of Microsoft Healthcare, stated that Microsoft hopes its Healthcare NeXT platform will “dramatically transform healthcare, will deeply integrate Greenfield research and health technology product development, as well as establish a new model at Microsoft for strategic health industry partnerships.”
HealthVault Insights was one of several projects in Microsoft’s Healthcare NeXT initiative. Run by Microsoft’s AI and Research Group and partnering with major healthcare and research facilities across the country, other projects in the Healthcare NeXT initiative include:
Speaking with Business Insider, Lee noted that healthcare is becoming a “very large business” for Microsoft. “We don’t talk publicly about the dollars, but it’s large,” he concluded.
Microsoft’s EmpowerMD website states the eventual goal is to use the system to connect conversations with the growing trove of healthcare data available. “Our long-term vision is a learning system that incorporates data from longitudinal medical records, medical devices, genomics, population health, research papers, and more.”
AI a ‘Sleeping Giant for Healthcare’
“AI can be viewed as a sleeping giant for healthcare,” Eric Horvitz, PhD, Director of Microsoft Research Labs, told Nasdaq, when discussing Microsoft’s view of technology and healthcare. “AI methods show promise for multiple roles in healthcare. [This includes] inferring and alerting about hidden risks of potential adverse outcomes, selectively guiding attention, care, and interventional programs where [they are] most needed and reducing errors in hospitals.”
One such project involves a strategic partnership with the University of Pittsburg Medical Center (UPMC), which is a “$13-billion Pittsburgh-based system, comprising more than 25 hospitals, a three-million-member health plan, and 3,600 physicians, [that] will be a core partner in our efforts to improve healthcare delivery through a series of projects, beginning with a focus on transforming clinician empowerment and productivity,” according to Microsoft.
“Despite UPMC’s efforts to stay on the leading edge of technology, too often our clinicians and patients feel as though they’re serving the technology rather than the other way around. With Microsoft, we have a shared vision of empowering clinicians by reducing the burden of electronic paperwork and allowing the doctor to focus on the sacred doctor-patient relationship,” Steven D. Shapiro, MD (above), Chief Medical and Scientific Officer of UPMC and President of UPMC’s Health Services division, stated in the Microsoft blog. [Photo copyright: University of Pittsburg Medical Center.]
Today, patients can directly interact with their PHI to analyze trends and take a proactive role in their own healthcare, while researchers tap into the computational power of Cloud computing and correlate data across vast sources using AI. Both trends highlight how technology continues to play a critical role in improving access to healthcare. And how tech researchers continue to develop more efficient and effective treatments.
Medical laboratories and anatomic pathology groups may soon contribute health information to databases that one day will power AI systems. These trends highlight opportunities to both educate physicians on the tools available to utilize patient health data in an effective manner, and on new platforms that clinical laboratories could use to further streamline operations, reduce costs, and boost efficiency.
Insurers might use blockchain technology to enable instantaneous verification and interoperability of healthcare records, which could impact clinical laboratory payment systems
Medical laboratories and anatomic pathology groups are keenly aware that connected, secure, interoperable health records are critical to smooth, efficient workflows. However, the current often dysfunctional state of health information technology (HIT) in America’s healthcare system often disrupts the security and functionality of information exchange between hospital and ancillary practice patient record systems.
One solution to this could be blockchain technology. With its big data and abundant touchpoints (typically: insurer, laboratory, physician, hospital, and home care), the healthcare industry could be ripe for blockchain information exchanges. Blockchain might enable secure and trusted linkage of payer, provider, and patient data. But what exactly is blockchain technology and how might it impact your laboratory?
Blockchains Could Transform Healthcare
Blockchain refers to a decentralized and distributed ledger that enables the interface of computer servers for the purpose of making, tracking, and storing linked transactions.
“At its core, blockchain is a distributed system recording and storing transaction records. More specifically, blockchain is a shared, immutable record of peer-to-peer transactions built from linked transaction blocks and stored in a digital ledger,” explained risk-management group Deloitte in a report, which goes on to state:
“Blockchain technology has the potential to transform healthcare, placing the patient at the center of the healthcare ecosystem and increasing the security, privacy, and interoperability of health data. This technology could provide a new model for health information exchanges (HIE) by making electronic medical records more efficient, disintermediated, and secure.
“Blockchain relies on established cryptographic techniques to allow each participant in a network to interact (e.g., store, exchange, and view information), without pre-existing trust between the parties.
“In a blockchain system, there is no central authority; instead, transaction records are stored and distributed across all network participants. Interactions with the blockchain become known to all participants and require verification by the network before information is added, enabling trustless collaboration between network participants while recording an immutable audit trail of all interactions.”
Key principles of blockchain (above) demonstrate the decentralization of the healthcare data. In some ways, this resembles electronic health record (EHR) systems that feature federated databases, rather than centralized databases. (Image copyright: Deloitte.)
Instant Verifications and Authorizations at Point-of-Care
In a Healthcare Finance News (HFN) article, insurers acknowledged blockchain’s potential for information verification and authorizations in real-time, fast payments, and access to patient databases that could fulfill population health goals.
“Everybody that is part of a transaction has access to the network. There’s no need for an intermediary. Blockchain allows for verification instantly,” noted Chris Kay, JD, Senior Vice President and Chief Innovation Officer at Humana, in the HFN article.
At clinical laboratories, blockchain could enable nearly instantaneous verification of a patient’s health insurance at time of service. Blockchain also could enable doctors to review a patient’s medical laboratory test results in real-time, even when multiple labs are involved in a person’s care.
“Everyone has to have a node on the blockchain and have a server linked to the blockchain. The servers are the ones talking to one another,” explained Kay. “What’s really transformative about this is it takes the friction out of the system. If I see a doctor, the doctor knows what insurance I have because it’s on the network. All this is verified through underlying security software.”
Healthcare Obstacles to Overcome
Breaking down data silos and loosening proprietary holds on information can help healthcare providers prepare for blockchain. However, in our highly regulated industry, blockchain is at least five years away, according to blockchain experts in a Healthcare IT News (HIT News) article.
“We’re hearing that blockchain is going to revolutionize the way we interact with and store data. But it’s not going to happen tomorrow. Let’s find smaller problems we can solve as a starting point—projects that don’t have the regulatory hurdles—and then take baby steps that don’t require breaking down all the walls,” advised Joe Guagliardo, JD, Intellectual Property/Technology Attorney and Chair of the Blockchain Technology Group at Pepper Hamilton, a Philadelphia-based law firm, in the HIT News article.
Healthcoin: Rewarding Patients for Improved Biomarkers
One company has already started to work with blockchain in healthcare. Healthcoin is a blockchain-based platform aimed at prevention of diabetes, heart disease, and obesity. The idea is for employers, insurers, and others to use Healthcoin (now in pre-launch) to reward people based on biomarker improvements shown in medical laboratory tests.
Healthcoin’s Chief Executive Officer Diego Espinosa and Chief Operating Officer Nick Gogerty, founded the company in 2016 after Espinosa, who had been diagnosed with diabetes, made diet changes to reverse it, according to an article in Bitcoin Magazine.
“When I saw my blood labs, the idea for Healthcoin was born—shifting the focus of prevention to ‘moving the needle’ on biomarkers, as opposed to just measuring steps,” Espinosa told Bitcoin Magazine.
Blockchain Provides Security
What does blockchain provide that isn’t available through other existing technologies? According to Deloitte, it’s security and trust.
“Today’s health records are typically stored within a single provider system. With blockchain, providers could either select which information to upload to a shared blockchain when a patient event occurs, or continuously upload to the blockchain,” Deloitte notes. “Blockchain’s security and ability to establish trust between entities are the reasons why it can help solve the interoperability problem better than today’s existing technologies.”
Should Clinical Laboratories Prepare for Blockchain?
It’s important to note that insurers are contemplating blockchain and making relevant plans and strategies. Dark Daily believes the potential exists for blockchain technology to both disrupt existing business relationships, including those requiring access to patient test data, and to create new opportunities to leverage patient test data in real-time that could generate new revenue sources for labs. Thus, to ensure smooth payments, medical laboratory managers and pathology group stakeholders should explore blockchain’s value to their practices.
Researchers note medical laboratories uniquely qualified to help doctors optimize lab test utilization, and to educate physicians on testing trends and improvements
Automation and informatics have revolutionized the modern medical laboratory. These same technologies also are powering the next generation of healthcare through precision medicine, genomics, and an increased ability to assess and leverage population health trends. In fact, exciting work is being done to use these technologies to help physicians and clinical laboratory professionals better work together.
When it comes to how physicians order and use medical laboratory tests, changing their long-standing habits can be a lengthy process. By using dedicated systems to define proper lab test usage, track lab orders and patient outcomes, and share data between clinical laboratory and healthcare environments, pathologists, medical laboratory scientists, and physicians could seamlessly access the knowledge needed to improve decision making.
Low-Value versus High-Value Care Ordering
Research published recently in the Journal of the American Medical Association Internal Medicine (JAMA Internal Medicine) investigated the order rates and utilization of low-value medical laboratory services and other diagnostic tests associated with headaches, respiratory tract infections, and back pain.
Their findings indicated that physicians in hospital-based practices ordered more “low-value care” than physicians in community-based practices. According to the research, low-value care includes:
The researchers found similar patterns in specialty referrals when comparing hospital-owned community practices and physician-owned practices.
The study authors noted, “Visits with a generalist other than the patient’s primary care provider were associated with greater provision of low-value care, but mainly within hospital-based settings.”
Medical Laboratories Critical to Increasing Care Value/Reimbursements
According to the study, physicians often develop routines and habits when ordering diagnostic testing and when utilizing clinical laboratory services. By taking a proactive role in educating physicians and managing lab test utilization, laboratories could assist physicians in shifting these habits and reduce the number of low-value or outmoded tests ordered.
Avoiding low-value or unwarranted testing:
Reduces order load on the laboratory;
Improves efficiency for healthcare providers; and
Improves the quality of care for patients.
This is particularly critical as value-based care continues to change the way both laboratories and healthcare facilities get reimbursed for services.
In a press release, Janet B. Kreizman, CEO of the American Association for Clinical Chemistry (AACC) stated, “The changing Medicare payment paradigm creates new opportunities for health systems to advance patient care while more efficiently and effectively utilizing their resources. Laboratory medicine experts are uniquely positioned to ensure this is achieved by working with physicians to devise optimal diagnostic and therapeutic protocols, leading to better health outcomes and reduced costs.”
Graphic above from the Institutes of Medicine (IOM) report, “Best Care at Lower Cost: The Path to Continuously Learning Health Care in America.” (Graphic copyright: National Academy of Sciences, Engineering, and Medicine.)
7% were uncertain about which diagnostic tests to order;
3% were uncertain on how to interpret results; and
Respondents only consulted with pathology or laboratory experts 6% of the time.
Thus, an important opportunity exists for laboratory experts to work with PCPs—both within hospitals and outpatient settings—to further improve understanding of the ever-shifting menu of testing options and how to best utilize available lab services.
Optimizing the Cost and Safety of Care through Cooperation
The program asked nearly 400,000 physicians to name five diagnostic test and procedures related to their specialty that offered questionable value to patients and outcomes. In a Kaiser Health News (KHN) article, Daniel Wolfson, COO at ABIMF, attributed the “Choosing Wisely” campaign to launching a national conversation on unwarranted and low-value care.
The KHN report also noted the impact of “Choosing Wisely” on Cedars-Sinai in Los Angeles, one of the largest hospitals in the nation. Harry Sax, MD, Executive Vice Chairman for Surgery at Cedars-Sinai explained how the hospital avoided $6-million in spending in 2013 alone by implementing program recommendations, and by being more selective regarding tests and procedures utilized at the hospital.
Using Lab Utilization Management Technology to Improve Testing Value
The authors of the AJCP study compared testing costs at the Richard L. Roudebush VA Medical Center in Indianapolis before and after implementing an electronic laboratory utilization management system. They attributed six-figure savings to a reduction in high-volume large-panel testing and redundant tests. Savings were realized without increasing length-of-stay or adversely effecting patient care.
As big data continues to shape the future of healthcare, and clinical laboratories continue to implement lean laboratory routines to maintain growth, these systems could offer increased opportunities to help physicians become better at ordering the right test at the right time for the right patient, while helping the clinical laboratories performing these tests to further trim waste, increase the value of care, increase reimbursement, and improve outcomes for patients.
