Experts list the top challenges facing widespread adoption of proteomics in the medical laboratory industry
Year-by-year, clinical
laboratories find new ways to use mass spectrometry to
analyze clinical specimens, producing results that may be more precise than
test results produced by other methodologies. This is particularly true in the
field of proteomics.
However, though mass spectrometry is highly accurate and
fast, taking only minutes to convert a specimen into a result, it is not fully
automated and requires skilled technologists to operate the instruments.
Thus, although the science of proteomics is advancing
quickly, the average pathology laboratory isn’t likely to be using mass
spectrometry tools any time soon. Nevertheless, medical
laboratory scientists are keenly interested in adapting mass spectrometry
to medical lab test technology for a growing number of assays.
Molly Campbell, Science Writer and Editor in Genomics, Proteomics, Metabolomics, and Biopharma at Technology Networks, asked proteomics experts “what, in their opinion, are the greatest challenges currently existing in proteomics, and how can we look to overcome them?” Here’s a synopsis of their answers:
Lack of High Throughput Impacts Commercialization
Proteomics isn’t as efficient as it needs to be to be
adopted at the commercial level. It’s not as efficient as its cousin genomics. For it to become
sufficiently efficient, manufacturers must be involved.
John Yates
III, PhD, Professor, Department of Molecular Medicine at Scripps Research California
campus, told Technology
Networks, “One of the complaints from funding agencies is that you can
sequence literally thousands of genomes very quickly, but you can’t do the same
in proteomics. There’s a push to try to increase the throughput of proteomics
so that we are more compatible with genomics.”
For that to happen, Yates says manufacturers need to
continue advancing the technology. Much of the research is happening at
universities and in the academic realm. But with commercialization comes
standardization and quality control.
“It’s always exciting when you go to ASMS [the conference for the American Society
for Mass Spectrometry] to see what instruments or technologies are going to be
introduced by manufacturers,” Yates said.
There are signs that commercialization isn’t far off. SomaLogic, a privately-owned American protein
biomarker discovery and clinical diagnostics company located in Boulder, Colo.,
has reached the commercialization stage for a proteomics assay platform called SomaScan. “We’ll be
able to supplant, in some cases, expensive diagnostic modalities simply from a
blood test,” Roy
Smythe, MD, CEO of SomaLogic, told Techonomy.
The graphic above illustrates the progression mass spectrometry took during its development, starting with small proteins (left) to supramolecular complexes of intact virus particles (center) and bacteriophages (right). Because of these developments, today’s medical laboratories have more assays that utilize mass spectrometry. (Photo copyright: Technology Networks/Heck laboratory, Utrecht University, the Netherlands.)
Achieving the Necessary Technical Skillset
One of the main reasons mass spectrometry is not more widely
used is that it requires technical skill that not many professionals possess.
“For a long time, MS-based proteomic analyses were technically demanding at
various levels, including sample processing, separation science, MS and the
analysis of the spectra with respect to sequence, abundance and
modification-states of peptides and proteins and false discovery rate
(FDR) considerations,” Ruedi
Aebersold, PhD, Professor of Systems Biology at the Institute of Molecular Systems Biology (IMSB) at
ETH Zurich, told Technology
Networks.
Aebersold goes on to say that he thinks this specific
challenge is nearing resolution. He says that, by removing the problem created
by the need for technical skill, those who study proteomics will be able to
“more strongly focus on creating interesting new biological or clinical
research questions and experimental design.”
Yates agrees. In a paper titled, “Recent Technical Advances in
Proteomics,” published in F1000 Research, a peer-reviewed open research
publishing platform for scientists, scholars, and clinicians, he wrote, “Mass
spectrometry is one of the key technologies of proteomics, and over the last
decade important technical advances in mass spectrometry have driven an
increased capability of proteomic discovery. In addition, new methods to
capture important biological information have been developed to take advantage
of improving proteomic tools.”
No High-Profile Projects to Stimulate Interest
Genomics had the Human Genome Project
(HGP), which sparked public interest and attracted significant funding. One of
the big challenges facing proteomics is that there are no similarly big,
imagination-stimulating projects. The work is important and will result in
advances that will be well-received, however, the field itself is complex and difficult
to explain.
Emanuel
Petricoin, PhD, is a professor and co-director of the Center for Applied
Proteomics and Molecular Medicine at George
Mason University. He told Technology
Networks, “the field itself hasn’t yet identified or grabbed onto a
specific ‘moon-shot’ project. For example, there will be no equivalent to the
human genome project, the proteomics field just doesn’t have that.”
He added, “The equipment needs to be in the background and
what you are doing with it needs to be in the foreground, as is what happened
in the genomics space. If it’s just about the machinery, then proteomics will
always be a ‘poor step-child’ to genomics.”
Democratizing Proteomics
Alexander
Makarov, PhD, is Director of Research in Life Sciences Mass Spectrometry
(MS) at Thermo Fisher
Scientific. He told Technology
Networks that as mass spectrometry grew into the industry we have today,
“each new development required larger and larger research and development teams
to match the increasing complexity of instruments and the skyrocketing
importance of software at all levels, from firmware to application. All this
extends the cycle time of each innovation and also forces [researchers] to
concentrate on solutions that address the most pressing needs of the scientific
community.”
Makarov describes this change as “the increasing democratization of MS,” and says that it “brings with it new requirements for instruments, such as far greater robustness and ease-of-use, which need to be balanced against some aspects of performance.”
One example of the increasing democratization of MS may be
several public proteomic datasets available to scientists. In European
Pharmaceutical Review, Juan
Antonio Viscaíno, PhD, Proteomics Team Leader at the European Bioinformatics Institute (EMBL-EBI)
wrote, “These datasets are increasingly reused for multiple applications, which
contribute to improving our understanding of cell biology through proteomics
data.”
Sparse Data and Difficulty Measuring It
Evangelia
Petsalaki, PhD, Group Leader EMBL-EBI, told Technology
Networks there are two related challenges in handling proteomic data.
First, the data is “very sparse” and second “[researchers] have trouble
measuring low abundance proteins.”
Petsalaki notes, “every time we take a measurement, we
sample different parts of the proteome or phosphoproteome and
we are usually missing low abundance players that are often the most important
ones, such as transcription
factors.” She added that in her group they take steps to mitigate those
problems.
“However, with the advances in MS technologies developed by
many companies and groups around the world … and other emerging technologies
that promise to allow ‘sequencing’ proteomes, analogous to genomes … I expect
that these will not be issues for very long.”
So, what does all this mean for clinical laboratories? At the
current pace of development, its likely assays based on proteomics could become
more common in the near future. And, if throughput and commercialization ever
match that of genomics, mass spectrometry and other proteomics tools could
become a standard technology for pathology laboratories.
If insurance plans are removed from the billing cycle for primary care, it’s not clear how clinical laboratories will be reimbursed for their services
Direct Primary Care (DPC) is gaining popularity in the United States. This emerging movement enables primary care providers to bill patients directly for services rendered, bypassing traditional health plans. On a large scale, employers can contract with primary care practices directly for their employees’ primary care coverage. The idea is to lower healthcare costs. But what exactly is DPC and how are clinical laboratories affected by it?
In operation, direct primary care is similar to concierge medicine, where a patient pays an annual retainer for direct access to a specific healthcare provider. DPC practices offer members unlimited, on-demand visits to primary care physicians for a flat, monthly fee.
The DPC movement has its own lobbying group—the Direct Primary Care Coalition—which supports physicians who opt to practice direct primary care. According to the group’s website, there are currently about 1,000 DPC practices in 48 states which serve over 300,000 patients.
DPC has gained Senatorial support. In December, Senators Bill Cassidy, MD (R-LA), Doug Jones (D-AL), Jerry Moran (R-KS) and Jeanne Shaheen (D-NH) introduced legislation to “lower the cost of healthcare and expand patients’ access to their primary care providers.”
Their bill (H.R. 3708), titled the “Primary Care Enhancement Act of 2019,” would amend the Internal Revenue Code of 1986 to “allow individuals with direct primary care service arrangements to remain eligible individuals for purposes of health savings accounts, and for other purposes.”
A press release announcing the Senate version of the bill (S. 2999), described DPC as a model that “encourages patients to develop personal relationships with their primary care physician, including extending access to care beyond office visits and business hours and through telemedicine. It focuses on prevention and primary care, relying less on specialist and hospital referrals. It is a growing model used by more than 1,000 practices across 48 states and the District of Columbia.”
The press release also states, “DPC models replace copays and deductibles with flat, affordable monthly fees. Current law makes DPC incompatible with health savings accounts (HSAs) paired with high-deductible health plans (HDHPs).”
Direct Primary Care in Practice
Physicians seem to like the DPC model. It frees them, they
say, from the unnecessary interference of insurance providers, the burdens of excessive
paperwork, and ever-increasing administration costs, while allowing them to
have a better patient-doctor relationship.
“I know all my patients by name. I have time for them,” Matthew Abinante, DO, told The DO, a journal of the American Osteopathic Association (AOA). “I probably interact with about 20 patients a day when you factor in the electronic communication.”
Abinante is a board-certified family physician. He practices at Elevated Health, a direct primary care practice in Huntington Beach, CA. Patients pay an average of $75 per month for membership. This fee includes unlimited same day/next day appointments and the ability to talk to a doctor via telephone, e-mail, text, or video chat—24/7.
Matthew Abinante, DO, is shown above treating a patient at Elevated Health, a DPC practice in California. “Our goal is to keep you as healthy as possible, while saving you time and money. We remove the barriers of traditional insurance and provide you with a modern take on the personal, old-fashioned care missing in today’s healthcare industry,” he said. (Photo copyright: Elevated Health.)
At Elevated Health, some minor clinical laboratory tests and
procedures are included in the monthly fee. They include:
Other medical laboratory testing, imaging, and medications
are available to patients at contracted wholesale prices, which are quoted up
front. This is consistent with the trend for price transparency in healthcare.
“What everyone really needs to know is that patients do get better care when their doctor is more satisfied with what they’re doing. And that takes time. What the [fee-for-service] system cannot provide us is time with the patient,” Tiffanny Blythe, DO, told The DO. Blythe runs Blue Lotus Family Medicine, a DPC practice in Kansas City, MO.
When Direct Primary Care Does Not Work
The DPC model has been tried before. In 2010, a DPC provider called Qliance was formed primarily on investment capital from Jeff Bezos of Amazon. The goal was to free doctors and patients from the constraints of traditional health insurance.
Qliance opened several clinics in the Seattle area and by
2014 had nearly 50,000 DPC patients—including employees of Expedia and Comcast. It also had a contract to
provide primary care services with a state Medicaid insurer. Nevertheless, Qliance
closed in 2017.
“We would open up a clinic and add a bunch of docs before we had enough patients to pay for it,” Nick Hanauer, a Seattle venture capitalist and investor in Qliance, told STAT.
“It’s just hard to get the customers because you had to
break the paradigm that was in everyone’s heads about how healthcare had to
work, and you had to disrupt the relationships people had with their insurance
companies,” Hanauer explained.
“Somebody with more economic power than we had could do
this—and should,” he added.
Not All Physicians Support Direct Primary Care
Since the DPC model is so new, there is little research or statistics to confirm it will have a positive effect on healthcare outcomes or lower healthcare costs. Some healthcare professionals have reservations about direct primary care. Their concerns include the potential for less oversight of practitioners and the possibility that patients will slight themselves regarding insurance coverage.
“What we don’t hear about are the people who need more than can cover and what happens to them when they fall into that gap,” Carolyn Engelhard, a health policy analyst and Assistant Professor at the University of Virginia School of Medicine. “We don’t know if they just don’t get care or then enter the traditional healthcare system and start over.”
There are also concerns that DPC plans could draw a large
percentage of healthier patients, which could raise costs for those in
traditional insurance plans, and that it may be more difficult for DPC patients
to gain access to needed specialists and other services.
“Healthcare is fragmented, and if we continue to have little
carve-outs so some [doctors] can practice medicine the way they want, it is not
helping to make the system more responsive and integrated,” Engelhard added.
Nonetheless, both Direct Primary Care and Concierge Medicine
are growing in popularity in the US. And because it’s unclear how clinical
laboratories would interact with or bill DPC practices, clinical laboratory
leaders should keep a close eye on this trend.
As more patients opt for these models of care, healthcare
organizations, pathology groups, and clinical laboratories will have to create
ways to adapt. Since DPC practices are out of most networks, clinical labs may
have to bill patients directly for their services. Not all clinical labs are
prepared to do that, and those that are could experience a slowdown in the
payment process. Labs may also have to contract with physicians to provide
testing services on a pre-determined wholesale cost basis.
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.
Changes in reimbursement models and federal compliance, as well as tougher payer audits, make it critical clinical laboratory managers are fully informed and prepared for what lies ahead in 2020
Not only does January 1st bring the new year of 2020, but it
also brings tough challenges for leaders of the nation’s clinical
laboratories and anatomic
pathology groups. Most of these challenges are triggered by the ongoing
transformation of the American healthcare system.
“Healthcare’s transformation in this country has two primary
elements,” said Robert L.
Michel, Editor-in-Chief of The Dark
Report, sister publication of Dark Daily. “One is the
integration of medical care to meet the related goals of keeping people out of
hospitals—the most expensive site of care—and to proactively manage patients to
keep them healthy.
“The second is reimbursement reform,” he continued.
“Healthcare policymakers want to eliminate fee-for-service
payments and move providers to different forms of value-based
reimbursement. The federal Medicare program seems to be taking the lead
over private payers as it introduces different pilot programs that reimburse
physicians and hospitals through such methods as bundled
payments, shared-savings arrangements, and per-member per-month (PMPM)
arrangements.”
Michel predicts that both the integration of care delivery
and the shift away from fee-for-service payment will become more urgent
challenges for clinical laboratory managers and pathologists during 2020.
“Take the integration of care, for example. Clinical laboratories,
since their inception, have been organized to serve the different provider
silos,” Michel stated. “Each client—whether it was a primary care physician, a
specialist doctor, a hospital, or a nursing home—could be served as a
stand-alone customer. That client ordered tests and the lab performed those
tests, submitted the results to that client, then billed insurance as
appropriate.
“Integration of clinical care changes that laboratory
service model in significant ways,” he continued. “Now, when a provider within
an integrated health system orders a medical laboratory test, the lab will want
those lab test results to be available, via the electronic
health record (EHR) system, to other providers within that health system.
“That is one example of how integrated care requires
clinical labs to realign their service model,” Michel added. “Combine that need
to change with the steady transition away from fee-for-service to reimbursement
based on value and you can see why all labs in the United States will be
uniquely challenged, not just in 2020, but in the succeeding years.”
Robert Michel (above) is Editor-in-Chief of The Dark Report and Dark Daily and founder of The Dark Intelligence Group. He will be hosting the 25th anniversary Executive War College on Lab and Pathology Management, which takes place April 28-29, 2020, in New Orleans. (Photo copyright: The Dark Report.)
Even Minor Changes in Care Require Major Responses by
Medical Laboratories
It is important for clinical laboratory managers, pathology
practice administrators, and the pathologists who are the business leaders of
their groups to understand the width and depth of the changes happening in
healthcare and laboratory medicine in the United States today. Even little
changes in how care is delivered can require a major response in how medical
laboratories are organized and how they deliver lab testing services.
For example, here are distinct trends associated with how
providers are responding to healthcare’s current transformation:
Meanwhile, the clinical laboratory industry is undergoing
its own transformation. Three major trends illustrate how labs are responding
to the new healthcare marketplace realities:
More use of Lean,
Six Sigma,
and process improvement techniques as labs strive to cut costs while protecting
quality and maintaining top-flight service levels.
More collaboration with providers, payers, and
even consumers, as innovative medical laboratory organizations move to deliver
more value, consistent with the Clinical Lab
2.0 business model.
Acquiring more robust information technologies
and analytics tools needed to leverage the lab’s clinical test data in ways to
provide increased value, not just to hospitals and physicians, but to payers,
patients, and a new class of care management companies that want to use big data and machine learning to
help payers and providers improve patient outcomes.
All of these trends will not only be high profile during
2020, but they will be driving forces throughout the decade of the 2020s.
This is why The Dark Report’s 25th anniversary Executive War College on Lab and
Pathology Management, which takes place April 28-29, 2020, in New Orleans,
will feature essential sessions and expert speakers who have the answers you need
to guide your lab through the challenging times yet to come.
Narrowing networks that exclude your lab from access to
patients? Executive War College has health plan lab network managers to share
insights with you, along with experienced lab managed care contracting
executives who can challenge these payers and teach you the secrets of winning
and keeping status as an in-network laboratory.
Concerned about new compliance issues—such as EKRA
(Eliminating Kickback in Recovery Act of 2018) and Medicare’s recent affiliation
disclosure rule for tougher government and private payer audits—that
challenge your lab’s financial integrity? Executive War College is bringing
together the nation’s smartest minds in compliance, billing/collections, and
lab accreditation to give you first-hand updates on the must-dos and the
must-avoids, so your lab is always inspection ready and compliant.
Because this is the 25th anniversary of the Executive War
College, we are pulling out all the stops to put on the biggest and best
conference on lab and pathology management that the nation has seen. There will
be more than 125 speakers and 90 sessions, along with our always-popular
two-roundtables for Lab CFOs, Academic Pathology, Lab CIOs, and Lab
Quality/Compliance Managers.
Most importantly for you, this year’s Executive War College
may be the most important lab management meeting you attend in 2020, because
there is no other place that puts you face-to-face with experts in every aspect
of clinical laboratories and anatomic pathology group management, while—at the
same time—giving you unparalleled networking with the lab profession’s
innovators.
This is the best investment you can make in both your professional management career and the successful operation of your laboratory.
Register today at https://dark.regfox.com/executive-war-college-2020 to reserve your seat and save $200 off regular registration rates, but act now while it’s fresh on your mind as these super-early-bird savings end January 31.
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.
