News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups
Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups
Hosted by Robert Michel
Sign In

McKinsey and Company Report Highlights Precision Medicine’s Advancements in Integrating Genetic Testing Results with Electronic Medical Records

Dec 31, 2018 | Digital Pathology, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology, Laboratory Testing, Management & Operations

New McKinsey report offers three market trends that could help clinical laboratories position themselves as front-runners in the race toward precision medicine 

With federal Medicare reporting and reimbursement programs now weighted heavily toward precision medicine practices that involve genetic testing to reveal predispositions to certain diseases, the trend is widely recognized as the future of U.S. healthcare. But are clinical laboratories and anatomic pathology groups prepared to take advantage of the accelerating reporting and reimbursement requirements that go with it?

A report from global management consulting firm McKinsey and Company provides insights into how integrating genetic test results data into electronic medical records (EMRs) will impact the future of precision medicine (AKA, personalized medicine).

The report, titled, “Genetic Testing: Opportunities to Unlock Value in Precision Medicine,” notes, “Advanced analysis of genomic data integrated with electronic medical records and other data sets, combined with effective reimbursement strategies and full data-regulatory compliance, will distinguish winning diagnostics companies.”

Data/Costs Impact Profitability/Payments to Providers, including Medical Labs

The McKinsey report lists “three major trends that will affect the market for genetic testing.” They include:

  • “Data integration and analytics to realize the value of data have become increasingly important for the healthcare delivery value chain;
  • “Payers are facing increasing pressure on costs and looking for new opportunities to control them; and,
  • “The US reimbursement landscape, which drives the profitability of most diagnostics players, is gradually evolving.”

These market trends may provide a roadmap for labs working to position their business in a healthcare industry where genetic sequencing, the data it produces, and evolving reimbursement methods affect a clinical laboratories financial well-being.

The Value of Genetic Test Data

Personal health data derived from genetic sequencing has value at the individual patient’s level when linked with other health indicators, as recent deals between direct-to-consumer (DTC) genetics testing companies—such as 23andMe—and various pharmaceutical companies demonstrate.

And, as artificial intelligence continues to be integrated into medical diagnostic technology, such data becomes even more valuable.

“Genetic testing, along with the current blooming of “omics” technologies, will continue to drive the pace of precision medicine. In this golden age of bioinformatics, the reimbursement landscape is evolving. The winners will gain first-mover advantages by seamlessly integrating existing big genetic or molecular data with electronic medical records—in full accordance with data privacy laws—to validate tests clinically and analytically through real-time advanced analytics,” the McKinsey report predicts. (Image copyright: MTB Europe.)

There is strong movement toward integrating genetic information into electronic medical records, as the National Institutes of Health (NIH) eMERGE program clearly demonstrates.

The Electronic Medical Records and Genomics (eMERGE) Network brings together researchers from genomics, statistics, clinical settings, and other areas of expertise in order to “develop, disseminate, and apply approaches to research that combine biorepositories with electronic medical record systems,” according to NIH’s website.

Similar efforts are underway through the National Human Genome Research Institute’s IGNITE (Implementing Genomics in Practice) program and the PREDICT (Pharmacogenomic Resource for Enhanced Decisions in Care and Treatment) program, launched in 2010 by Vanderbilt University.

However, data-privacy laws also are becoming stricter. HIPAA (Health Insurance Portability and Accountability Act) and GDPR (General Data Protection Regulation) strictly regulate the collection, retention, and sharing of patient data. Medical laboratories working to derive value from such data should ensure their processes are well within the letter of those laws.

Controlling the Impact of Cost and the Expense of Genetic Testing

In every area of healthcare, there are increasing pressures related to cost and genetic sequencing is no exception. McKinsey offers two reasons that payers are feeling the pinch:

  • Costs are growing faster than insurance premiums; and,
  • There are more innovative genetic and genome sequencing tests.

Payers hope that “innovative” genetic tests can lead to therapies or even cures that lower the cost of healthcare. However, a plethora of factors influence the development of genetic sequencing technology. Nevertheless, consumer demand is driving the costs down.

DTC genetic testing companies are leveraging these lowered costs. However, they also have other revenue streams—marketing their customers’ data, for example.

Although it may seem that 23andMe’s business model derives most of its revenue from selling its genotyping kits, that’s just one of the company’s revenue streams. In 2015, biotechnology company Genentech and DTC genetic testing company 23andMe reached a $60 million deal that gave Genentech access to test results data derived from 23andme customers who had previously signed agreements allowing their data to be used for research.

Dark Daily recently reported on one DTC genetic test customer who attempted to get her test results removed entirely from the Internet. (See, “Erasing ‘DNA Footprint’ from the Internet Proves Difficult for Consumers Who Provide Data to Genetic Testing Companies,” December 24, 2018.)

Opportunities for Clinical Labs

The three market trends included in the McKinsey report provide some guidance for clinical laboratories and genetic testing companies strategizing to be on the cusp of precision medicine.

Medical laboratories that integrate their data with physicians’ practice EHRs will be rewarded with first-mover status as genetic testing continues to evolve and become more recognized as a critical clinical tool. Additionally, clinical laboratories will play a key role in helping physicians prove medical necessity for genetic tests.

—Dava Stewart

 

Related Information:

Genetic Testing: Opportunities to Unlock Value in Precision Medicine

Electronic Medical Records and Genomics (eMERGE) Network

Implementing Genomics in Practice (IGNITE)

Personalized Drug Prescribing Program Expands, Upgrades

Trends in Microbiology

From Theory to Practice: Translating Whole-Genome Sequencing (WGS) into the Clinic

Erasing ‘DNA Footprint’ from the Internet Proves Difficult for Consumers Who Provide Data to Genetic Testing Companies

Singapore University Researchers Unveil Portable $1 Point-of-Care Testing That Speedily Tests for Multiple Diseases

Dec 28, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations

Hand-held tests developed from the work of the NUS BIGHEART team could help caregivers in remote areas diagnose disease quickly, accurately, and inexpensively

There is great demand in Asia for diagnostic tests that are cheap, accurate, and have a fast time to answer. Especially in Asia’s remote and mobile clinics where caregivers need immediate access to clinical laboratory test results at the time of patients’ visits.

Researchers at the National University of Singapore (NUS) have unveiled just such a test that could eventually be performed at the point-of-care using smartphones for disease detection and analysis.

Dark Daily has reported many times on new clinical laboratory tests that use smartphones in past e-briefings. They are among the most significant developments to impact the pathology industry in our times.

According to the NUS researchers, their test can screen, detect, and analyze multiple diseases through a nucleic acid test platform. Best of all, the test costs less than $1, operates at room temperature, and takes about 30 minutes to an hour to uncover diseases.

NUS published the study in Nature Communications.

Researchers Aim to Simplify Complex Lab Testing

“Rapid, visual detection of pathogen nucleic acids has broad applications in infection management,” the researchers wrote in their study. They found that a screening device using molecular agents to detect disease-specific molecules has implications for a range of diseases: from Zika and Ebola to hepatitis, dengue, malaria, and cancers, according to a news release.

The NUS researchers dubbed their creation enVision (enzyme-assisted nanocomplexes for visual identification of nucleic acids).

2018-0918-enVision-graphic

The enVision microfluidic system (above) consists of a series of enzyme–DNA nanostructures to enable target recognition, target-independent signaling, and visual detection. The common cartridge houses the universal signaling nanostructures, which are immobilized on embedded membranes, for target-independent signaling and visual detection. The platform is designed to complement the modular enVision workflow. (Image and caption copyright: National University of Singapore.)

“Conventional technologies—such as tests that rely on polymerase chain reaction to amplify and detect specific DNA molecules—require bulky and expensive equipment, as well as trained personnel to operate these machines. With enVision, we are essentially bringing the clinical laboratory to the patient,” said Nicholas Ho, PhD, an NUS Biomedical Institute for Global Health Research and Technology (BIGHEART) Research Fellow and study co-first author, in the news release.

Shao-Lab-NUS-BIGHEART-enVision

NUS BIGHEART researchers include Assistant Professor Huilin Shao, PhD, at center holding the enVision cartridge, with Nicholas Ho, PhD, to the left and Lim Geok Soon, PhD, to the right. They tested the performance of enVision on human papillomavirus (HPV), a sexually transmitted infection and primary cause of cervical cancer. HPV has more than 100 subtypes of which 15 are malignant. The researchers studied samples from 35 NUS patients. (Photo copyright: National University of Singapore.)

“HPV is a global epidemic. While mostly benign, some of these infections can progress to cause deadly cervical cancer,” they wrote in Nature Communications. “Point-of-care testing that can distinguish the infection subtypes, and be performed at the patient level, could bring tremendous opportunities for patient stratification and accessible monitoring and is associated with better health outcomes.”

NUS researchers found that the enVision platform had a 95% accuracy rate in screening for HPV, as compared to conventional lab testing, according to Singapore’s Straits Times.

“While laboratory tests can detect one to two HPV strains, the kit is able to detect over 10 strains and has better coverage for each strain,” said Assistant Professor Huilin Shao, PhD, NUS BIGHEART, in the Straits Time article.

How Does it Work? 

The test’s steps, according to an NUS News article, include:

  • The tiny plastic chip holds the sample (blood, urine, or saliva) for analysis, along with a DNA “molecular machine” to recognize genetic sequences;
  • This sample is channeled to a common signal cartridge containing another DNA molecular machine;
  • Visual signals are evidence of disease-specific molecules and an assay turns from colorless to brown if disease is present;
  • Further analysis, potentially using a smartphone app, could delve into the extent of an infection.

“The first machine is a recognition nanostructure which detects specific genetic sequences that relate to different kinds of diseases—the pathogens, bacteria, or viruses for example—and produces a signal,” Ho told NUS News. “It pairs up with what we call an amplifier nanostructure which takes that signal, amplifies it and turns it into a color read-out.”

The researchers note that more studies on other diseases are needed before marketing of the test kit, which they developed over 18 months. The NUS team also sees opportunities to enable better image capabilities and analysis algorithms through smartphone applications (apps).

“Large cohort studies on the detection of pathogen nucleic acids across a spectrum of diseases (e.g., other infections, cancers, inflammatory disorders) using various biological specimens (e.g., tissue, blood, urine) could be performed to validate the clinical utility of the enVision technology for diverse visual detection,” they concluded in Nature Communications.

As healthcare resources become limited and populations continue to grow, studies into portable, low-cost testing become more critical. Clinical laboratories performing tests in rural, outlying areas of the world will especially benefit from the work of researchers like the NUS BIGHEART team at University of Singapore.

—Donna Marie Pocius

Related Information:

New Test Kit Invented by NUS Researchers Enables Quick, Accurate, and Inexpensive Screening of Diseases

Cheap Portable Screening Kit for Multiple Diseases in the Works

Visual and Modular Detection of Pathogen Nucleic Acids with Enzyme-DNA Molecular Complexes

72 Cents Test Screens for Diseases in Less Than an Hour

enVisioning Future Disease Diagnostics

New Fast Inexpensive Mobile Device Accurately Identifies Healthcare-acquired Infections and Communicates Findings to Doctors’ Smartphones and Portable Computers

Multi-channel Smartphone Spectrometer Enables Clinical Laboratory Testing Quickly and Accurately in Remote Regions

Researchers at New York Genome Center and Columbia University Discover Why Certain Genetic Mutations Cause Disease in Some Individuals and Not in Others

Dec 26, 2018 | Digital Pathology, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations

Determining the reason why people with similar genetic makeups can have different risk levels for disease could help scientists develop more accurate tools that clinical laboratories and pathology groups can use for diagnosis and prognosis

It’s been a big question for genetic scientists that now may have part of an answer. Why do individuals who carry identical gene mutations for a particular disease often experience different disease symptoms and severity? The question relates to variable penetrance and a new study suggests some reasons why this is often true.

Researchers at the New York Genome Center (NYGC) and the Columbia University Department of Systems Biology performed the study by examining the important implications of a genetic irregularity known as variable penetrance in human disease.

The researchers published their findings in the scientific journal Nature Genetics.

Disease Risk Determined by Combination of Coding and Regulatory Gene Variants

The phenomenon of variable penetrance refers to the severity of the effects of disease-causing variants and how they may differ among individuals who carry those genetic variants. Variable penetrance has proven to be a challenge when predicting the severity of a disease even when a strong genetic association is present.

The researchers developed a hypothesis for modified penetrance, where genetic variants that regulate gene activity can alter the disease risk caused by protein-coding gene variants. The study links modified penetrance to specific diseases at the genome level, which could help predict the severity of some diseases.

“Our findings suggest that a person’s disease risk is potentially determined by a combination of their regulatory and coding variants, and not just one or the other,” stated Tuuli Lappalainen, PhD, Group Leader at the New York Genome Center and Assistant Professor at Columbia University, in a news release. “Most previous studies have focused on either looking for coding variants or regulatory variants that affect disease in these individuals or potentially looking at common variants that could affect disease. We have merged these two fields into one clear hypothesis that uses data from both of them, which was fairly unheard of before.”

NYGC-Columbia-University-Tuuli-Lappalainen-PhD-Stephane-Castel-PhD

Tuuli Lappalainen, PhD (top photo left), and Stephane Castel, PhD (bottom photo left), of the New York Genome Center (NYGC) and Columbia University, co-led the new study. The hypothesis of the study is illustrated here with an example in which an individual is heterozygous for both a regulatory variant and a pathogenic coding variant. The two possible haplotype configurations would result in either decreased penetrance of the coding variant, if it was on the lower-expressed haplotype, or increased penetrance of the coding variant, if it was on the higher-expressed haplotype. (Image and caption copyrights: NYGC.)

The researchers first tested their modified penetrance hypothesis by analyzing data from the Genotype-Tissue Expression (GTEx) Project, a database created by the National Institutes of Health (NIH) to increase our understanding of how genes contribute to diseases. By evaluating the interactions of regulatory and coding variants in people without severe genetic disorders, they found an enrichment of haplotypes, a group of alleles of different genes on a single chromosome that are closely enough linked to be inherited.

Haplotypes protect against disease by decreasing the penetrance of coding variants associated with disease development. Because the researchers were looking at individuals without severe genetic diseases, the presence of enhanced haplotypes was expected.

The scientists then tested their hypothesis of modified penetrance in a disease-specific population of patients. They analyzed data from The Cancer Genome Atlas (TCGA), a database complied by the NIH, along with information from the Simons Simplex Collection (SSC).

The SSC is a project of the Simons Foundation Autism Research Initiative (SFARI) that has a permanent repository of genetic samples from 2,600 families, each of which has one child affected with autism spectrum disorder (ASD), and unaffected parents and siblings.

In both the cancer patients and individuals with ASD, the researchers discovered an enrichment of haplotypes forecasted to increase the penetrance of coding variants associated with the two disorders.

The team then designed an experiment using CRISPR/Cas9 genome editing technology to test their modified penetrance hypothesis. For this portion of the experiment, they chose a coding variant associated with Birt-Hogg-Dube´ Syndrome, a rare genetic disorder that can cause susceptibility to certain types of tumors.

By editing the single-nucleotide polymorphism (SNP) into a cell line on different haplotypes with a regulatory variant, they were able to prove that the regulatory variant did modify the effect of the coding disease-causing variant.

“Now that we have demonstrated a mechanism for modified penetrance, the long-term goal of the research is better prediction of whether an individual is going to have a disease using their genetic data by integrating the regulatory and coding variants,” said Lappalainen in the news release.

New Tools for More Precise Diagnosis/Prognosis

This discovery should help provide a framework for scientists to test disease SNPs to assess if they could be affected by modified penetrance, which could help medical professionals better predict an individual’s potential risk of disease development and severity.

“In the future, studies of the genetic causes of severe diseases should take into account this idea that regulatory variants need to be considered alongside coding variants,” said Stephane Castel, PhD, Senior Research Fellow at NYGC, in the news release. “This should eventually lead to a more fine-grained understanding of the risk of coding variants associated with disease.”

Of course, such test are years away from clinical use. However, the NYGC/Columbia University study highlights how much more precise diagnosis/prognosis could become with these types of tools.

Should further research validate these early insights, clinical laboratories could soon have new genetic tests that better predict and identify which health outcomes patients should expect based on their unique genetic makeup.

—JP Schlingman

Related Information:

Research: Molecular Mechanism Explains Why Genetic Mutations Affect Some People

Modified Penetrance of Coding Variants by Cis-regulatory Variation Contributes to Disease Risk

New Study Explains Why Genetic Mutations Cause Disease in Some People but Not in Others

Dr. Tuuli Lappalainen Awarded Major NIH Grant to Study Genomic Phenomenon Variable Penetrance

Rutgers University Researchers Develop Desktop Venipuncture Robot Capable of Drawing Blood Samples and Rendering Analyses Outside of Medical Laboratories

Dec 21, 2018 | Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology

Robotics combined with microfluidic systems continue to push traditional clinical laboratory testing and procedures toward physician’s offices and other point-of-care settings

Researchers at Rutgers University have developed a new venipuncture robot that can not only draw blood and perform medical laboratory tests, but also provide immediate analyses of blood samples at point-of-care locations, such as clinics, private doctor’s offices, and rural environments.

It’s a development that could give clinical laboratories new opportunities to support physicians. But, should blood labs, phlebotomists, and medical technologists feel threatened by this development?

“This device represents the holy grail in blood testing technology,” said Martin L. Yarmush, MD, PhD, Bioengineer and Translational Scientist, Professor in the Department of Biomedical Engineering at Rutgers University, and senior author of the study, in a news release. “Integrating miniaturized robotic and microfluidic (lab-on-a-chip) systems, this technology combines the breadth and accuracy of traditional blood drawing and laboratory testing with the speed and convenience of point-of-care testing.”

Dark Daily has reported on several “lab-on-a-chip” systems (or other types of “lab-on-a-” test devices) in past e-briefings. However, those devices for the most part are administered as part of procedures performed at clinical laboratories. Now comes a device that could make it feasible for doctors to perform some traditional clinical laboratory procedures in-office, while patients are still present. Such an innovation, if embraced, could impact clinical lab workflows and revenues.

The Rutgers researchers published their findings in Technology, an online scientific journal.

Rutgers Researchers Goal: ‘Nobody Touches a Needle’

Diagnostic blood testing is the most commonly performed medical test in the world, and the results influence most healthcare treatment decision-making. Traditionally, the success rate of manually drawing blood samples depends upon the skill of the clinician and the physiology of the patient. By locating the blood vessels before the venipuncture, the researchers expect their device to prevent stressful multiple blood-draw attempts, bruising, and injuries to arm nerves.

Martin-Yarmush-MD-PhD

“There are about two billion blood draws done in the U.S. alone each year,” Martin L. Yarmush, MD, PhD (above), Bioengineer and Translational Scientist at Rutgers University and senior author of the study, told Smithsonian Magazine. “It is the number one patient injury procedure. It’s also the number one clinical injury procedure. The device is meant to take over such that nobody touches a needle.” (Photo copyright: Rutgers University.)

The end-to-end tabletop device includes an image-guided robot for extracting blood samples from veins, a sample-handling module, and a centrifuge-based blood analyzer. The venipuncture robot works by first utilizing a combination of near-infrared and ultrasound imaging to locate blood vessels in a patient. The device then creates a 3D image of the vessels before sticking the patient with a needle to collect a blood sample.

The robot potentially could make it easier and faster to obtain blood samples from patients, particularly for patients where traditional blood draws can be difficult, such as children and the elderly.

“We wanted to create a device that would perform venipuncture procedure with little to no human involvement, thus minimizing human error,” Yarmush told Smithsonian Magazine. “As such, our automated device requires little to no training, allowing it to be easily adapted to any clinical environment.”
Rutgers-University-blood-test-robot

The Rutgers venipuncture robot (above) contains a centrifuge-based analyzer capable of performing instant blood analyses, such as white blood cell counts and hemoglobin measurements. Immediate readings could mean that medical practices won’t need to send blood samples to a clinical laboratory for analysis. (Image copyright: Rutgers University/Smithsonian Magazine.)

Protecting Phlebotomists as well as Patients

The researchers also hope their robot could help prevent accidental needle sticks to phlebotomists. According to a study published in Mayo Clinic Proceedings titled, “Phlebotomists at Risk,” a hard-working phlebotomist may perform as many as 10,000 venipunctures annually. The median needlestick injury rate is about 1 per 10,000 venipunctures, so a dedicated phlebotomist could experience one accidental percutaneous blood exposure per year.

The researchers tested their prototype on “tissue-like” artificial arms containing tubes filled with blood-like substances. They hope to begin performing clinical trials on the venipuncture robot within the next year and aspire to establish other uses for the device.

“When designing the system, our focus was on creating a modular and expandable device,” Max Balter, PhD, stated in the news release. Balter led the study while a graduate research fellow at Rutgers. He is currently a senior research and development engineer at Medtronic. “With our relatively simple chip design and analysis techniques, the device can be extended to incorporate a broader panel of tests in the future.”

Such a device could provide valuable and rapid test results in emergency settings such as ambulances, emergency departments, and army medical facilities. The robot also would be a boon to rural/remote settings located far from a clinical lab, as well as regions that suffer from a shortage of trained medical personnel and critical resources.

A cost-effective, reliable phlebotomy robot could be a valuable asset for clinical laboratories in the future as well. However, were such a device to find a place in clinical care, it could reduce the demand for phlebotomists. It could also accelerate the trend of moving traditional clinical laboratory testing to doctor’s offices, clinics, and remote point-of-care settings.

—JP Schlingman

Related Information:

Automated Robotic Device for Faster Blood Testing

A Robot May One Day Draw Your Blood

Automated End-to-end Blood Testing at the Point-of-care: Integration of Robotic Phlebotomy with Downstream Sample Processing

Phlebotomists at Risk

Rutgers Researchers Develop Automated Robotic Device for Faster Blood Testing

Why It’s Time for All Clinical Laboratories and Anatomic Pathology Groups to have a Genetic Testing and Gene Sequencing Strategy

Dec 3, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory Pathology, Laboratory Testing, Management & Operations

As personalized medicine becomes more popular, clinical laboratories, and anatomic pathologists are uniquely positioned to use next-generation sequencing to advance their scope among regulators, insurers, providers and patients, while adding clinical value and generating a new revenue source

By now, most clinical pathologists and medical laboratory scientists recognize that genetics, genetic testing, and gene sequencing will be a major transformative force in this country’s healthcare system. Genetics is the future of modern medicine.

At the same time, most independent labs and health network labs still lack the key resources needed for them to provide accurate and state-of-the-art genetic testing and gene sequencing services in support of clinical care.

The good news is that it is not yet prime time for genetic testing—meaning few genetic tests have become part of routine care, particularly in primary care settings. Today’s limited use of genetic tests creates the opportunity for any medical laboratory and anatomic pathology group to use this time to develop its genetic testing strategy. It also has time to incrementally put in place the resources it will need to offer genetic testing and gene sequencing services to its client physicians.

“Every clinical lab that wants to be a provider of genetic tests needs three basic resources,” stated Robert L. Michel, Editor-in-Chief of The Dark Report and Dark Daily. “First, the lab must have information technology in place that can handle genetic and molecular data. The second thing needed are pathologists, PhDs, and clinical laboratory scientists trained in genetic and molecular diagnostics. Of course, the third resource is to have the lab analyzers, instruments, and automation needed to extract, amplify, and sequence specimens.”

Experts agree that adoption of genetic testing will happen at a rapid pace. “Next-generation sequencing (NGS) is an incredibly powerful, positive force in medical care. We were in the Dark Ages before this. It is the tsunami on our shores, and it’s going to take over all of medicine. It’s not a trend. It’s the future of medicine. There’s no question about it,” predicts Maurie Markman, MD, an oncologist and President of Medicine and Science at Cancer Treatment Centers of America, in an article he penned for Health Connect South.

 

“As knowledge of genomic medicine has increased, its cost has plummeted,” notes Maurie Markman, MD (above), President of the Cancer Treatment Centers of America, in his Health Connect South article. “Sequencing a human genome [in 2015] costs less than $10,000, compared to more than $100 million in 2001. Not only are the tests more available to patients, but more oncologists are trying their hand at tumor testing and building on the base of knowledge.” (Photo copyright: Cancer Treatment Centers of America.)

“If you agree with Markman’s comments, then your medical lab should have a plan for how it will incorporate NGS technologies and genetic testing into its menu of lab tests,” observed Michel. “Because NGS is the engine powering much of this new genetic information and igniting the potential of personalized medicine, probably the single most important business step clinical labs and pathology groups can take at this point is to begin to create the informatics capabilities needed to support genetic testing.

“This can be done by either adding the needed functions to the existing laboratory information system (LIS) or supplementing that LIS with appropriate middleware solutions,” he continued. “This is true even if a lab plans to outsource both the gene sequencing and the annotation and interpretation of the resulting gene sequences. It will need in-house informatics capabilities to store and report that genetic information.”

NGS, Gene Sequencing, Precision Medicine, and Clinical Laboratories

Purchasing, implementing, and operating NGS technologies can be a costly venture, so it is critical that labs know and understand the needs of their referring clients.

“Knowing who your lab’s customers are and what you do for them today should guide you as a laboratory,” notes Brian Keefe, Vice President of Sales and Customer Innovation at Psyche Systems, a laboratory solutions developer for the medical industry based in Boston. “For example, your pathology group knows it should be offering NGS testing, and the justification for needing to go in this direction is because 90% of your clients are oncologists.”

Using NGS technology and marketing it to clients will be a valuable benefit for clinical laboratories. It will enable labs to participate in personalized medicine and allow them to become the “go to” facility for specific genetic tests.

“If you’re a laboratory that has figured out how to map the genome for nightmare bacteria, it doesn’t matter whether you’re three miles or 3,000 miles away, physicians will send their samples to your lab regardless of the distance,” Keefe notes. “If your lab is first to market, you establish powerful brand recognition and attract positive attention, which justifies your lab’s cost to set up and offer that testing in the first place.”

Learn More by Requesting the Dark Daily NGS White Paper

To help medical laboratories and anatomic pathology groups learn more about the growing role of NGS in clinical care, and how NGS can benefit clinical and molecular laboratories, Dark Daily and The Dark Report have produced a white paper titled, “How Next-Generation Sequencing Helps Molecular Laboratories Deliver Personalized Medicine Services to their Client Physicians.”

Medical laboratory leaders who want to learn how labs can establish NGS services and implement the IT/Informatics needed to be successful in using NGS should request a copy of this important white paper. It reviews how pathologists can help providers select targeted therapies and touches on marketing strategies to use NGS to procure new customers and retain existing customers.

The NGS white paper can be downloaded at no cost by clicking here or placing https://www.darkdaily.com/how-next-generation-sequencing-helps-molecular-laboratories-deliver-personalized-medicine-services-to-their-client-physicians-601/ into your browser.

—JP Schlingman

Related Information:

How Next-Generation Sequencing Helps Molecular Laboratories Deliver Personalized Medicine Services to their Client Physicians

Genomic Medicine: The Future of Cancer Treatment Is Now

Clinical Pathology Labs Are on Track to Get New Genetic Test That Screens for 448 Rare Childhood Diseases

Is Whole-genome Sequencing Reaching a Tipping Point for Clinical Pathology Laboratories?

Innovations in Microsampling Blood Technology Mean More Patients Can Have Blood Tests at Home, and Clinical Laboratories May Advance Toward Precision Medicine Goals

Nov 28, 2018 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing

Clinical laboratory leaders aiming for patient-centered care and precision medicine outcomes need to acknowledge that patients do not want to be in hospitals or travel to physician offices and patient care centers for blood tests. It can be inconvenient, sometimes costly, and often painful.

That’s why disease management methods such as remote patient monitoring are appealing to many people. It’s a big market estimated to reach $1 billion by 2020, according to a Transparency Market Research Report. The study also associated popularity of devices such as heart rate and respiratory rate monitors with economic pressures of unnecessary hospital readmissions.

But can remote patient monitoring be used for more than to check heart rates, monitor blood glucose, and track activity levels? Could such technology be effectively leveraged by medical laboratories for remote blood sampling?

Microsampling versus Dried Blood Collecting

Remote patient monitoring must be able to address a large number of diseases and chronic health conditions for it to continue to expand and gain acceptance as a viable way to care for patients in different settings outside of hospitals. However, as most clinical pathologists and laboratory scientists know, clinical laboratory testing has an essential role in patient monitoring. Thus, there is the need for a way to collect blood and other relevant samples from patients in these remote settings.

One promising approach is the development of new microsampling technology that can overcome past obstacles of dried blood collection. Furthermore, microsampling-enabled devices can make it possible for medical laboratories to reach out to the homebound to secure accurate and volumetrically appropriate samples in a cost-effective manner.

“One well-established fact in today’s healthcare system is that an ever-greater proportion of patients want clinical care that is less invasive and less intrusive,” noted Robert Michel, Editor-in-Chief of Dark Daily and The Dark Report. “Patients want to take more control over their treatment and be more effective at maintaining the stability of their chronic conditions, and often are happier than those who need to travel to have chronic conditions monitored. To meet this need there has been significant innovation, particularly in the area of remote blood sampling using microsampling technology.”

For decades, medical laboratories have tried various methods for acquiring and transporting blood samples from remote locations. One such non-invasive alternative to venipuncture is called dried blood spot (DBS) collecting. It involves placing a fingerprick of blood on filter paper and allowing it to dry prior to transport to the lab.

But DBS collected bio samples often do not contain enough hematocrit (volume percentage of red blood cells) for laboratories and clinical pathologists to provide accurate reports and interpretations. Reported reasons DBS cards have not penetrated a wide market include:

  • Hematocrit bias or effect;
  • Costly card punching and automation equipment; and,
  • Possible disruption to existing lab workflows.

Microsampling Technology Enables Collection of Appropriate Samples

Microsampling has to have the capability to enable labs to deliver quality results from reliable blood samples. This remote sampling technology makes it possible for phlebotomists to offer a comfortable collection alternative for homebound patients and rural residents. It also can be useful for physicians stationed in remote areas. Patients themselves can even collect their own blood samples.

Volumetric Absorptive Microsampling (VAMS) technology enables accurate samples of blood or other fluids from amounts as small as 10, 20, or 30 microliters, according to Neoteryx, LLC, of Torrance, Calif., the developer of VAMS. The technology is integrated into the company’s Mitra microsampler blood collection devices (shown above) in formats for patient use and for medical laboratory microsample accessioning and extraction. Click here to watch a video on the Mitra Microsampler Specimen Collection Device. (Photo copyright: Neoteryx.)

One company developing these types of products is Neoteryx, LLC, of Torrance, Calif. It develops, manufactures, and distributes microsampling products. Patients with the company’s Mitra device use a lancet to puncture their skin and draw a small amount of blood, collect it on the device’s absorptive tip, and then mail the samples to a blood lab for testing (Neoteryx does not perform testing).

Fasha-Mahjoor

“Technologies such VAMS are driving [precision medicine] in an extremely cost-effective manner, while only requiring minimal patient effort. Patients are taking a more active role in their healthcare journeys, and at-home sampling is supporting this shift,” stated Fasha Mahjoor, Chief Executive Officer, Neoteryx, in a blog post. (Photo copyright: Neoteryx.)

Advantages of Microsampling

Patient satisfaction survey data collected by Neoteryx suggest patients are comfortable with their role in blood collection:

  • 70% are comfortable or very comfortable with the process;
  • 86% say it is easy or very easy to use the Mitra device;
  • 92% report it is easy to capture blood on the device’s tip;
  • 55% of Mitra device users are likely or very likely to choose microsampling over traditional venipuncture; and,
  • 93% noted they are likely or very likely to choose the device for child care.

A list of published studies describes certain advantages of VAMS technology that have implications for medical laboratories and clinical pathologists:

  • Microsampling has benefits and implications for therapeutic drug monitoring, infectious disease research, and remote specimen collection;
  • Dried blood microsamples from fingerstick can generate reliable data “correlating” to traditional blood collection processes;
  • Bioanalytical data collected with the Mitra device are accurate and dependable; and,
  • In a study for a panel of anti-epileptic drugs, VAMS led to optimized extraction efficiency above 86%, which means there was no hematocrit bias.

Learn More by Requesting the Dark Daily Microsampling White Paper

To help medical laboratories and clinical pathologists learn more about microsampling and VAMS devices, Dark Daily and The Dark Report have produced a white paper titled “How to Create a Patient-Centered Lab with Breakthrough Blood Collection Technology: Microsampling Takes Blood Collection Out of the Clinic.” The paper includes sections addressing these topics:

  • Rise of patient-centered care and remote patient monitoring;
  • Dried blood collection over the years and the hematocrit effect;
  • A look at microsampling and how it takes blood collection out of the clinic;
  • How Volumetric Absorptive Microsampling (VAMS) technology works;
  • Patient satisfaction data;
  • Research about microsampling including extensive graphics;
  • Launching new VAMS technology; and,
  • Frequently asked questions.

neoteryx-white-paper-cover

Innovative medical laboratory leaders who want to increase their understanding of how microsampling technology and remote patient monitoring relates to the goal of becoming a patient-centered lab are encouraged to request a copy of the white paper. It can be downloaded at no cost by clicking here, or placing https://www.darkdaily.com/how-to-create-a-patient-centered-lab-with-breakthrough-blood-collection-technology-9-2018/ into your browser.

—Donna Marie Pocius

Related Information:

Remote Patient Monitoring Devices Market

Neoteryx, LLC, and Cedars Sinai Partner to Investigate at Home Blood Sampling Possibilities for Patients with Inflammatory Bowel Disease

Creating a Patient-Centered Lab with Breakthrough Blood Collection Technology Using New Microsampling Methods Provides Reliable, Economic Collection, Shipping and Storage Solutions

How to Create a Patient-Centered Lab with Breakthrough Blood Collection Technology: Microscopy Takes Blood Collection Out of the Clinic

 

;