These virtual office visits use artificial intelligence and text messaging to allow real physicians to diagnose patients, write prescriptions, and order clinical laboratory tests
Clinical laboratories may soon be receiving test orders from physicians who never see their patients in person, instead evaluating and diagnosing them through a smartphone app. In response to major changes in the primary care industry—mostly driven by consumer demand—mobile app developers are introducing new methods for delivering primary care involving smartphones and artificial intelligence (AI).
Medical laboratories and pathology groups should prepare for consumers who expect their healthcare to be delivered in ways that don’t require a visit to a traditional medical office. One question is how patients using virtual primary care services will provide the specimens required for clinical laboratory tests that their primary care providers want performed?
Two companies on the forefront of such advances are 98point6 and K Health, and they provide a glimpse of primary care’s future. The two companies have developed smartphone apps that incorporate AI and the ability to interact with real physicians via text messaging.
Virtual Primary Care 24/7 Nationwide
Dark Daily has repeatedly reported that primary care in America is undergoing major changes driven by many factors including increasingly busy schedules, the popularity of rapid retail and urgent care clinics, consumer use of smartphones and the Internet to self-diagnose, and decreasing numbers of new doctors choosing primary care as a career path.
Writing in Stat, two physicians who had just completed internal medicine residencies, explained their own decisions to leave primary care. In their article, titled, “We were inspired to become primary care physicians. Now we’re reconsidering a field in crisis,” Richard Joseph, MD, and Sohan Japa, MD, cited factors that include long hours, low compensation in comparison with specialty care, and deficiencies in primary care training. At the time of their writing they were senior residents in primary care-internal medicine at Brigham and Women’s Hospital in Boston.
They also pointed to a decline in office visits to primary care doctors. “Patients are increasingly choosing urgent care centers, smartphone apps, telemedicine, and workplace and retail clinics that are often staffed by nurse practitioners and physician assistants for their immediate health needs,” they wrote.
One solution to declining populations of primary care physicians is a smartphone app created by Seattle-based 98point6. The service involves “providing virtual text-based primary care across the entire country, 24/7 of everyday,” explained Brad Younggren, MD, an emergency physician and Chief Medical Officer at 98point6, in a YouTube interview. “It’s text-based delivery of care overlaid with an AI platform on top of it.”
The service launched on May 1, 2018, in 10 states and is now available nationwide, according to press releases. 98point6 offers the service through individual subscriptions or through deals with employers, health plans, health systems, and other provider organizations. The personal plan costs $20 for the first year and $120 for the second, plus $1 per “visit.”
Subscribers use text messaging to interact with
an “automated assistant” that incorporates artificial intelligence. While
messaging, they can describe symptoms or ask questions about medical topics.
“After the automated assistant has gathered as many
questions as it deems necessary, it hands [the information] off to a
physician,” Younggren said. In most cases, all communication is via text
messaging. However, the doctor may ask the subscriber to send a photo or participate
in a video meeting.
The doctor then makes a diagnosis and treatment plan. Prescriptions can be sent to a local pharmacy and the subscriber can be referred to a clinical laboratory for tests. LabCorp or Quest Diagnostics are preferred providers, but subscribers can choose to have orders sent to independent labs as well, states the company’s website.
Younggren claims the company’s physicians can resolve more
than 90% of the cases they encounter. If, however, they can’t resolve a case, they
can refer the patient to a local physician. And because most of 98point6’s
interactions with subscribers are text-based, that messaging serves as reference
documentation for other doctors, he said.
“We’ve set out to dramatically augment the primary-care physician with deep technology by delivering an on-demand primary-care experience,” Robbie Cape (above), CEO and co-founder of 98point6, told Modern Healthcare. (Photo copyright: Seattle Business Magazine.)
The 98point6 physicians are full-time employees and work with the company’s technologists to improve the AI’s capabilities, Younggren said. The company claims its doctors can diagnose and treat more than 400 conditions, including: allergies, asthma, skin problems, coughs, flu, diabetes, high blood pressure, and infections. For medical emergencies, subscribers are advised to seek emergency help locally.
98point6 also can function as a front end for interacting
with patients in health systems that have their own primary-care doctors,
Younggren said. The company’s health system clients “don’t actually have a good
digital primary care front end to deliver care,” he said. “So, we can
essentially give them that, and then we can also get some detailed
understanding of how to coordinate care within the health system to drive
patients to the care that they need.” For example, this can include directing the
patient to an appropriate sub-specialist.
Leveraging Patient Data to Answer Health Questions
K Health in New York City offers a similar service based on its own AI-enabled smartphone app. The app incorporates data gleaned from the records of more than two million anonymous patients in Israel over the past 20 years, explained company co-founder Ran Shaul, co-founder and Chief Product Officer, in a blog post.
The software asks users about their “chief complaint” and
then compares the answers with data from similar cases. “We call this group
your ‘People Like Me’ cohort,” Shaul wrote. “It shows you how doctors diagnosed
those people and all the ways they were treated.”
The K Health app is free, but for a fee ranging from $14 for a one-time visit to $39 for an annual subscription, users can text with doctors, the company’s website states.
Unlike 98point6, K Health’s doctors are employed by “affiliated physician-owned professional corporations,” the company says, not K Health itself.
“The doctor you chat with will discuss a recommended treatment plan that may include a physical exam, lab tests, or radiology scans,” states K Health’s website. “They may send you directly for some of these tests, but others will require you to visit a local doctor.”
These are just the latest examples of new technologies and
services devised to help patients receive primary care. How a patient who uses
a smartphone app gets the necessary clinical laboratory tests performed is a
question yet to be answered.
Clinical laboratory leaders will want to watch this shift in
the delivery of primary care and look for opportunities to serve consumers who
are getting primary care from nontraditional sources.
By offering DTC preventative gene sequencing, hospital leaders
hope to help physicians better predict cancer risk and provide more accurate
diagnoses
Two Boston health systems, Brigham and Women’s Hospital and Massachusetts General Hospital (MGH), are the latest to open preventative gene sequencing clinics and compete with consumer gene sequencing companies, such as 23andMe and Ancestry, as well as with other hospital systems that already provide similar services.
This may provide opportunities for clinical laboratories. However, some experts are concerned that genetic sequencing may not be equally available to patients of all socioeconomic classes. Nor is it clear how health systems plan to pay for the equipment and services, since health insurance companies continue to deny coverage for “elective” gene sequencing, or when there is not a “clear medical reason for it, such as for people with a long family history of cancer,” notes STAT.
Therefore, not everyone is convinced of the value of gene sequencing to either patients or hospitals, even though advocates tout gene sequencing as a key element of precision medicine.
Is Preventative Genetic Sequencing Ready for the Masses?
Brigham’s Preventive Genomics Clinic offers comprehensive DNA sequencing, interpretation, and risk reporting to both adults and children. And MGH “plans to launch its own clinic for adults that will offer elective sequencing at a similar price range as the Brigham,” STAT reported.
The Brigham and MGH already offer similar gene sequencing services as other large health systems, such as Mayo Clinic and University of California San Francisco (UCSF), which are primarily used for research and cancer diagnoses and range in price depending on the depth of the scan, interpretation of the results, and storage options.
However, some experts question whether offering the
technology to consumers for preventative purposes will benefit anyone other
than a small percentage of patients.
“It’s clearly not been demonstrated to be cost-effective to promote this on a societal basis,” Robert Green, MD, MPH, medical geneticist at Brigham and Women’s Hospital, and professor of genetics at Harvard, told STAT. “The question that’s hard to answer is whether there are long-term benefits that justify those healthcare costs—whether the sequencing itself, the physician visit, and any downstream testing that’s stimulated will be justified by the situations where you can find and prevent disease.”
Additionally, large medical centers typically charge more
for genomic scans than consumer companies such as 23andMe and Ancestry. Hospital-based
sequencing may be out of the reach of many consumers, and this concerns some
experts.
“The idea that genomic sequencing is only going to be
accessible by wealthy, well-educated patrons who can pay out of pocket is
anathema to the goals of the publicly funded Human Genome Project,” Jonathan
Berg, MD, PhD, Genetics Professor, University of North Carolina at Chapel
Hill, told Scientific
American.
And, according to the American Journal of Managed Care, “It’s estimated that by 2021, 100 million people will have used a direct-to-consumer (DTC) genetic test. As these tests continue to gain popularity, there is a need for educating consumers on their DTC testing results and validating these results with confirmatory testing in a medical-grade laboratory.”
This is why it’s critical that clinical laboratories and
anatomic pathology groups have a genetic testing and gene sequencing strategy,
as Dark
Daily reported.
David Bick, MD, Chief Medical Officer at the HudsonAlpha Institute for Biotechnology and Medical Director of the Smith Family Clinic for Genomic Medicine, told Scientific American, “there’s just more and more interest from patients and families not only because of 23andMe and the like, but because there’s just this understanding that if you can find out information about your health before you become sick, then really our opportunity as physicians to do something to help you is much greater.”
In an article he penned for Medium, Robert Green, MD, MPH (shown above counseling a patient), medical geneticist at Brigham and Women’s Hospital and professor of genetics at Harvard, wrote, “The ultimate aim of our Genomes2People Research Program is to contribute to the transformation of medicine from reactive to proactive, from treatment-oriented to preventive. We are trying to help build the evidence base that will justify societal decision to make these technologies and services accessible to anyone who wants them, regardless of means, education or race and ethnicity.” (Photo copyright: Wall Street Journal.)
Is Preventative Genomics Elitist?
As large medical centers penetrate the consumer genetic
testing market some experts express concerns. In a paper he wrote for Medium,
titled, “Is Preventive Genomics Elitist?” Green asked, “Is a service like this
further widening the inequities in our healthcare system?”
Green reported that while building the Preventive Genomics Clinic at Brigham, “we … struggled with the reality that there is no health insurance coverage for preventive genomic testing, and our patients must therefore pay out of pocket. This is a troubling feature for a clinic at Brigham and Women’s Hospital, which is known for its ties to communities in Boston with diverse ethnic and socioeconomic backgrounds.”
Most of Brigham’s early genetics patients would likely be “well-off,
well-educated, and largely white,” Green wrote. “This represents the profile of
typical early adopters in genetic medicine, and in technology writ large. It
does not, however, represent the Clinic’s ultimate target audience.”
More Data for Clinical Laboratories
Nevertheless, preventive genomics programs offered by large
health systems will likely grow as primary care doctors and others see evidence
of value.
Therefore, medical laboratories that process genetic
sequencing data may soon be working with growing data sets as more people reach
out to healthcare systems for comprehensive DNA sequencing and reporting.
Number of patients eligible for genome-driven oncology therapy is increasing, but the percentage who reportedly benefit from the therapy remains at less than 5%
Advances in precision medicine in oncology (precision oncology) are fueling the need for clinical laboratory companion diagnostic tests that help physicians choose the best treatment protocols. In fact, this is a fast-growing area of clinical diagnostics for the nation’s anatomic pathologists. However, some experts in the field of genome-based cancer treatments disagree over whether such treatments offer more hype than hope.
Prasad and his colleagues evaluated 31 US Food and Drug
Administration (FDA) approved drugs, which were “genome-targeted” or
“genome-informed” for 38 indications between 2006 and 2018. The researchers
sought to answer the question, “How many US patients with cancer are eligible
for and benefit annually from genome-targeted therapies approved by the US Food
and Drug Administration?”
They found that in 2018 only 8.33% of 609,640 patients with
metastatic cancer were eligible for genome-targeted therapy—though this was an
increase from 5.09% in 2006.
Even more telling from Prasad’s view, his research team concluded
that only 4.9% had benefited from such treatments. Prasad’s study found the
percentage of patients estimated to have benefited from genome-informed therapy
rose from 1.3% in 2006 to 6.62% in 2018.
“Although the number of patients eligible for genome-driven treatment has increased over time, these drugs have helped a minority of patients with advanced cancer,” the researchers concluded. “To accelerate progress in precision oncology, novel trial designs of genomic therapies should be developed, and broad portfolios of drug development, including immunotherapeutic and cytotoxic approaches, should be pursued.”
The graph above is based on data from a study published in Science titled, “Estimation of the Percentage of US Patients With Cancer Who Benefit from Genome-Driven Oncology,” co-authored by Vinay Prasad, MD, MPH, et al. (Image copyright: Science.)
A Value versus Volume Argument?
Hyman, who leads a team of oncologists that conduct dozens
of clinical trials and molecularly selected “basket studies” each year,
countered Prasad’s assertions by noting the increase in the number of patients
who qualify for precision oncology treatments.
As reported in Science, Hyman said during his AACR
presentation that Sloan Kettering matched 15% of the 25,000 patients’ tumors it
tested with FDA-approved drugs and 10% with drugs in clinical trials.
“I think this is certainly not hype,” he said during the
conference.
Hyman added that another 10% to 15% of patient tumors have a
DNA change that matches a potential drug tested in animals. He expects “basket”
trials to further increase the patient pool by identifying drugs that can work
for multiple tumor types.
The US National Institute of Health (NIH) describes “basket studies” as “a new sort of clinical studies to identify patients with the same kind of mutations and treat them with the same drug, irrespective of their specific cancer type. In basket studies, depending on the mutation types, patients are classified into ‘baskets.’ Targeted therapies that block that mutation are then identified and assigned to baskets where patients are treated accordingly.”
Are Expectations of Precision Medicine Exaggerated?
A profile in MIT Technology Review, titled, “The Skeptic: What Precision Medicine Revolution?,” describes Prasad’s reputation as a “professional scold” noting the 36-year-old professor’s “sharp critiques of contemporary biomedical research, including personalized medicine.” Nevertheless, Prasad is not alone in arguing that precision oncology’s promise is often exaggerated.
“Like most ‘moonshot’ medical research initiatives,
precision medicine is likely to fall short of expectations,” Joyner wrote.
“Medical problems and their underlying biology are not linear engineering
exercises and solving them is more than a matter of vision, money, and will.”
“Although some niche applications have been found for
precision medicine—and gene therapy is now becoming a reality for a few rare
diseases—the effects on public health are miniscule while the costs are astronomical,”
they wrote.
Hope for Precision Medicine Remains High
However, optimism over precision oncology among some industry leaders has not waned. Cindy Perettie, CEO of molecular information company Foundation Medicine of Cambridge, Mass., argues genome-directed treatments have reached an “inflection point.”
“Personalized cancer treatment is a possibility for more patients than ever thanks to the advent of targeted therapies,” she told Genetic Engineering and Biotechnology News. “With a growing number of new treatments—including two pan-tumor approvals—the need for broad molecular diagnostic tools to match patients with these therapies has never been greater. We continue to advance our understanding of cancer as a disease of the genome—one in which treatment decisions can be informed by insight into the genomic changes that contribute to each patient’s unique cancer.”
Prasad acknowledges genome-driven therapies are beneficial for some cancers. However, he told MIT Technology Review the data doesn’t support the “rhetoric that we’re reaching exponential growth, or that is taking off, or there’s an inflection point” signaling rapid new advancements.
“Right now, we are investing heavily in immunotherapy and heavily in genomic therapy, but in other categories of drugs, such as cytotoxic drugs, we have stopped investigating in them,” he told Medscape Medical News. “But it’s foolish to do this—we need to have the vision to look beyond the fads we live by in cancer medicine and do things in a broader way,” he added.
“So, I support broader funding because you have to sustain
efforts even when things are not in vogue if you want to make progress,” Prasad
concluded.
Is precision oncology a fad? Dark Daily has covered the advancements in precision medicine extensively over the past decade, and with the launch of our new Precision Medicine Institute website, we plan to continue reporting on further advancements in personalized medicine.
Time will tell if precision oncology can fulfill its
promise. If it does, anatomic pathologists will play an important role in
pinpointing patients most likely to benefit from genome-driven treatments.
One thing that the debate between proponents of precision
medicine in oncology and their critics makes clear is that more and better
clinical studies are needed to document the true effectiveness of target
therapies for oncology patients. Such evidence will only reinforce the
essential role that anatomic pathologists play in diagnosis, guiding
therapeutic decisions, and monitoring the progress of cancer patients.
Combining consumers’ health data, including clinical laboratory test results, to genetic data for predispositions to chronic diseases could be key to developing targeted drugs and precision medicine treatments
Genetic testing company 23andMe is beta testing a method for combining customers’ private health data—including clinical laboratory test results and prescription drug usage—with their genetic data to create the largest database of its kind.
Such information—stored securely but accessible to 23andMe for sale to pharmaceutical companies for drug research and to diagnostics developers—would place 23andMe in a market position even Apple Health cannot claim.
Additionally, given the importance of clinical lab test data—which makes up more than 70% of a patient’s medical records—it’s reasonable to assume that innovative medical laboratories might consider 23andMe’s move a competitive threat to their own efforts to capitalize on combining lab test results with patients’ medical histories, drug profiles, and demographic data.
23andMe plans to use third-party medical network Human API to collect and manage the data. Involvement in the beta test is voluntary and currently only some of the genetic company’s customers are being invited to participate, CNBC reported.
Apple Healthcare, 23andMe, and Predicting Disease
The announcement did not go unnoticed by Apple, which has its own stake in the health data market. Apple Healthcare’s product line includes:
Mobile device apps for using at point-of-care in hospitals;
iPhone apps that let customers store and share their medical and pharmaceutical histories and be in contact with providers;
ResearchKit, which lets researchers build specialized apps for their medical research;
CareKit, which lets developers build specialized monitoring apps for patients with chronic conditions; and
Apple Watch, which doubles as a medical device for heart monitoring.
What Apple does not have is genetic data, which is an issue.
An Apple Insider post notes, “As structured, 23andMe’s system has advantages over Apple’s system including not just genetic data, but insights into risks for chronic disease.”
This is significant. The ability to predict a person’s predisposition to specific chronic diseases, such as cancer, is at the heart of Precision Medicine. Should this capability become not only viable and reliable but affordable as well, 23andMe could have a sizeable advantage in that aspect of the health data market.
Anne Wojcicki (above) is CEO and co-founder of 23andMe. The genetic company is inviting some of its customers to combine their medical information—including clinical laboratory test results and medication histories—with their stored genetic data. Customers would have access to the combined data and be able to share it with providers. In exchange, 23andMe gets to sell it to pharmaceutical companies and diagnostics developers. If successful and popular with the eight to 10-million peoplewho have reportedly purchased its test kits, 23andMe could produce a significant source of revenue. (Photo copyright: Inc.)
Genetic Test Results Combined with Clinical Laboratory
Test Results
23andMe is hopeful that after people receive their genetic test
results, they will then elect to add their clinical laboratory results, medical
histories, and prescription drug information to their accounts as well. 23andMe
claims its goal is to provide customers with easy, integrated access to health
data that is typically scattered across multiple systems, and to assist with
medical research.
“It’s a clever move,” Ruby Gadelrab, former Vice President of Commercial Marketing at 23andMe who now provides consulting services to health tech companies, told CNBC. “For consumers, health data is fragmented, and this is a step towards helping them aggregate more of it.”
CNBC also reported that Gadelrab said such a database
“might help 23andMe provide people with information about their risks for complex,
chronic ailments like diabetes, where it’s helpful for scientists to access a
data-set that incorporates information about individual health habits,
medications, family history and more.”
Of course, it bears saying that the revenue generated from cornering
the market on combined medical, pharmaceutical, and genetic data from upwards
of 10-million customers would be a sizable boon to the genetic test company.
CNBC reported that “the company confirmed that it’s a
beta program that will be gradually rolled out to all users but declined to
comment further on its plans. The service is still being piloted, said a person
familiar with the matter, and the product could change depending on how it’s
received.”
Will 23andMe Have to Take on Apple?
23andMe already earns a large portion of its revenue through
research collaborations with pharmaceutical companies, and it hopes to leverage
those collaborations to produce new drug therapies, CNBC reported.
This new venture, however, brings 23andMe into competition
with Apple on providing a centralized location from where consumers can access
and share their health data. But it also adds something that Apple does not
have—genetic data that can provide insight into consumers’ predispositions to
certain diseases, which also can aid in the development of precision medicine
treatments for those diseases.
Whether Apple Healthcare perceives 23andMe’s encroachment on
the health data market as a threat remains to be seen.
Nevertheless, this is another example of a prominent company
attempting to capitalize on marketable customer information. Adding medical information
to its collected genetic data could position 23andMe to generate significant
revenue by selling the merged data to pharmaceutical companies and diagnostics
developers, while also helping patients easily access and share their data with
healthcare providers.
It’s a smart move, and those clinical laboratory executives
developing ways to produce revenue from their lab organization’s patient lab test
data will want to watch closely as 23andMe navigates this new market.
Through partnerships with CVS, Utah Health, and Kaiser Permanente the new UPSFF drone service could deliver savings to healthcare consumers and reduced TATs for clinical laboratories
United Parcel Service (UPS) successfully delivered by air medical prescriptions from a CVS pharmacy to customers’ residences in Cary N.C. This was the next step in the package delivery company’s plan to become a major player in the use of drones in healthcare and it has major implications for clinical laboratories and pathology groups.
Earlier this year, Dark Daily’s sister publication, The Dark Report (TDR), covered UPS’ launch of a drone delivery service on the WakeMed Health and Hospitals medical campus in Raleigh, N.C. The implementation followed a two-year test period during which UPS used drones manufactured by Matternet, a company in Menlo Park, Calif., to fly clinical laboratory specimens from a medical complex of physicians’ offices to the health system’s clinical laboratory more than 100 times. (See TDR, “WakeMed Uses Drone to Deliver Patient Specimens,” April 8, 2019.)
At the 24th Annual Executive War College on Lab and Pathology Management in April, Chairman and CEO David Abney (above) explained why UPS is investing in drone technology for clinical laboratory health network delivery. “Healthcare is a strategic imperative for us,” Abney said. “We deliver a lot of important things, but lab [shipments] are critical, and they’re very much a part of patient care.” (Photo copyright: Dark Daily.)
In October, UPS signed a letter of intent with CVS Health to “explore drone deliveries, expanding UPS’ sights from hospital campuses to the homes of CVS customers as it builds out its drone delivery subsidiary,” Modern Healthcare reported.
In November, UPS succeeded in these goals with UPS Flight Forward, Inc. (UPSFF), UPS’ new drone delivery service which, according to its website, is the first “drone airline” to receive full Part 135 certification (Package Delivery by Drone) from the Federal Aviation Administration (FAA).
“This drone delivery, the first of its kind in the industry, demonstrates what’s possible for our customers who can’t easily make it into our stores,” said Kevin Hourican, EVP, CVS Health and President of CVS Pharmacy, in a UPS press release. “CVS is exploring many types of delivery options for urban, suburban, and rural markets. We see big potential in drone delivery in rural communities where life-saving medications are needed and consumers at times cannot conveniently access one of our stores.”
Drones Deliver Clinical Lab Specimens and Pharmaceuticals
Since March, UPSFF has completed more than 1,500 drone
flights (with 8,000 clinical laboratory samples) at WakeMed in Raleigh, N.C.
UPS’ drone delivery decreased delivery time of clinical laboratory specimens
between WakeMed’s physician office building to the hospital-based lab from 19
minutes to three minutes, according to UPS data reported in October by an Advisory
Board daily briefing.
WakeMed is seeking to “provide advantages in patient care
that cannot be obtained in any other way” Michael
Weinstein, MD, PhD, Director of Pathology Laboratories at WakeMed, told TDR.
With the signing of the UPS (NYSE:UPS)-UPSFF (UPS Flight
Forward)-CVS (NYSE:CVS.N) agreement in October—and initial first flights which
took place on November 1 between a CVS pharmacy and customers’ residences in
Cary, NC—UPS completed the “the first revenue-generating drone delivery of a
medical prescription from a CVS pharmacy directly to a consumer’s home,” the
UPS press release states.
“When we launched UPS Flight Forward, we said we would move quickly to scale this business … and that’s exactly what we are doing,” Scott Price (above), UPS Chief Strategy and Transformation Officer, told Supply Chain Dive. “We started with a hospital campus environment and are now expanding scale and use-cases,” he added. Clinical laboratories can probably look forward to similar UPS drone delivery services in all 50 states and Washington, DC. (Photo copyright: UPS.)
Other Healthcare Organizations on Board
WakeMed and CVS are not alone in UPS drone deployment for
healthcare deliveries. Advisory Board reported that UPSFF also partnered
with other healthcare systems to provide drone flights for on-campus delivery of
pharmaceuticals and medical supplies, including:
AmerisourceBergen:
to move pharmaceuticals, supplies, and records to “qualifying” medical
campuses;
Kaiser
Permanente: to send medical supplies between buildings at different campus
sites; and
University
of Utah Health’s hospital campuses: to transport biological samples,
documents, supplies, and medical instruments between their facilities.
Drone delivery of clinical laboratory specimens is swiftly become a global reality that labs should watch closely. Past Dark Daily e-briefings reported on drone deliveries being conducted in Virginia, North Carolina, Australia, Switzerland, and Rwanda.
Pathologists and medical laboratory managers need to stay
abreast of these developments, as widespread drone delivery of clinical laboratory
specimens may happen on a surprisingly fast timeline. Drone delivery already
has TAT improvement implications and could be a way for labs to differentiate
their businesses and enhance workflow.
Half of the genes identified were found to be singletons, unique to specific individuals, offering the possibility of developing precision medicine therapies targeted to specific patients, as well as clinical laboratory tests
Microbiologists and other medical laboratory scientists may soon have more useful biomarkers that aid in earlier, more accurate detection of disease, as well as guiding physicians to select the most effective therapies for specific patients, a key component of Precision Medicine.
The scientists also found that more than half of the bacterial genes examined occurred only once (called “singletons”) and were specific to each individual. A total of 11.8 million of these singletons came from oral samples and 12.6 million of them derived from gut samples, a Harvard news release noted.
In a paper published in Cell Host and Microbe the researchers state, “Despite substantial interest in the species diversity of the human microbiome and its role in disease, the scale of its genetic diversity, which is fundamental to deciphering human-microbe interactions, has not been quantified.”
To determine this quantity, the researchers conducted a meta-analysis of metagenomes from the human mouth and gut among 3,655 samples from 13 unique studies. Of their findings, they wrote, “We found staggering genetic heterogeneity in the dataset, identifying a total of 45,666,334 non-redundant genes (23,961,508 oral and 22,254,436 gut) at the 95% identity level.”
The scientists also found that while genes commonly found in
all the samples seemed to drive the basic functions of a microbe’s survival,
the singletons perform more specialized functions within the body, such as
creating barriers to protect the micro-organisms from external onslaughts and
helping to build up resistance to antibiotics.
“Some of these unique genes appear to be important in solving evolutionary challenges,” said Braden Tierney, a PhD student at Harvard Medical School and one of the authors of the study, in the news release. “If a microbe needs to become resistant to an antibiotic because of exposure to drugs, or suddenly faces a new selective pressure, the singleton genes may be the wellspring of genetic diversity the microbe can pull from to adapt,” he concluded.
‘More Genes in the Human Microbiome than Stars in the
Universe’
According to their published paper, the team of microbiologists and bioinformaticians pinpointed more than 46 million bacterial genes contained within 3,655 Deoxyribonucleic acid (DNA) samples. They identified 23,961,508 non-redundant genes in the oral samples and 22,254,436 non-redundant genes in the intestinal samples.
While similar research in the past has targeted bacteria in
either the gut or the mouth, the scientists believe their study is the first
that analyzed DNA collected from both areas simultaneously.
The graphic above, taken from the Harvard Medical School study, illustrates the ratio of singleton vs. non-singleton bacteria contained in human microbiome. The sheer amount of diversity seems to have impressed the scientists. “There may be more genes in the collective human microbiome than stars in the observable universe, and at least half of these genes appear to be unique to each individual,” the Harvard news release states. This diversity could lead to new precision medicine treatments and clinical laboratory diagnostics. (Graphic copyright: Harvard Medical School.)
“Just like no two siblings are genetically identical, no two bacterial strains are genetically identical, either,” said study co-author Chirag Patel, PhD, Assistant Professor of Biomedical Informatics at Harvard’s Blavatnik Institute. “Two members of the same bacterial strain could have markedly different genetic makeup, so information about bacterial species alone could mask critical differences that arise from genetic variation.”
The scientists also endeavored to determine the number of
genes that reside in the human microbiome but found the precise number difficult
to identify. One calculation estimated that number to be around 232 million,
while another suggested the number could be substantially higher.
“Whatever it may be, we hope that our catalog, along with a
searchable web application, will have many practical uses and seed many directions
of research in the field of host-microbe relationships,” stated Patel in the
news release.
New Diagnostics for Clinical Laboratories?
This type of research could have lasting effects on clinical
laboratories. As the volume of data generated by diagnostic testing of microbes
in patients opens new understanding of how these factors affect human disease
and create differences from one individual to another, the increased number of
genes and gene mutations mean that microbiology laboratories will increase
their use of information technology and analytical software tools.
“Ours is a gateway study, the first step on a what will
likely be a long journey toward understanding how differences in gene content
drive microbial behavior and modify disease risk,” said Tierney in the Harvard
news release.
That’s good news, because new biomarkers derived from such
research will help microbiologists and other clinical laboratory scientists
more accurately detect disease and identify the best therapies for individual
patients.
