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

UnitedHealth Group to Launch Electronic Health Records Platform in 2019; Will It Guide Physicians to Preferred Clinical Laboratory Providers?

Jan 11, 2019 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations

Leveraging the user base of its existing Rally mobile wellness platform, UnitedHealth Group plans to expand its new electronic health records system to 50 million benefited members and one million healthcare providers by the end of 2019

Before the end of 2019, UnitedHealth Group plans to introduce an electronic health records (EHR) system that it developed internally. It has a ready market for such a system because of its 50 million beneficiaries and one million providers. But this EHR may raise interesting questions for the clinical laboratory industry if it is designed to guide physicians to UnitedHealth’s preferred clinical laboratories when they use the EHR to order lab tests.

According to Healthcare Dive, UnitedHealth Group (NYSE:UNH) CEO David Wichmann announced plans to roll out a “fully individualized, fully portable” EHR platform in 2019 by leveraging Rally, their existing mobile wellness platform, during their third-quarter earnings call in October. With 20 million registered users already using Rally, this could encourage adoption and use of the new EHR among UnitedHealth Group’s 50 million fully benefited members.

UHC’s IHR Complements EHR Systems

Exact details of the platform’s capabilities are still unclear. However, additional information from a November 27 investors conference indicates that the new platform might function more like Apple’s approach to personal health records (PHRs) and less like a traditional EHR. (See Dark Daily, “Apple’s Update of Its Mobile Health App Consolidates Data from Multiple EHRs and Makes It Easier to Push Clinical Laboratory Data to Patients,” March 21, 2018.)

“UnitedHealth executives offered a few more details on Tuesday, leaving the impression that the new IHR [individual health record] would complement, not replace, existing EHRs,” noted FierceHealthcare in their coverage of the conference.

Coverage from Forbes indicates the UnitedHealth IHR will be available to both patients and healthcare providers, with UnitedHealth Group predicting usage by one million medical care providers by the end of 2019.

“A traditional electronic medical record focuses largely on streamlining internal business processes for facilities and medical groups,” Steve Nelson, CEO of UnitedHealthcare (UHC), explained during the conference. “But the IHR connects numerous EMRs, creating a unified and secure source of truth for both consumers and care providers, and unlocking the value of data that is currently trapped in today’s fragmented healthcare system. That means consumers have a much more complete, personal picture of their health needs.” [Photo copyright: UnitedHealth Group/Business Insider.)

Connecting Data from Multiple EHRs to Provide a Big Picture Look at Care

Forbes quotes Nelson as saying, “[The new IHR] also empowers care providers with connected, credible information at the point of care by enabling them to see a patient’s interactions with other clinicians.”

According to Healthcare Dive, Wichmann noted that the UNH health record platform would be “deeply personal” and suggest “best actions” gleaned from medical data. This would allow UnitedHealth to utilize the strong points of Optum—a UnitedHealth Group venture focused on providing health services and innovations—to leverage analytics capabilities aimed at both encouraging patients to take an active role in managing their health and finding the best providers in their area.

LabCorp, Quest Could Benefit from UnitedHealth’s IHR

FierceHealthcare also outlines other acquisitions made by UnitedHealth and Optum over the past 10 years that might play a role in the new system, including:

• Axolotl: a health information exchange provider bought in 2010;

• Picis: a health IT and analytics company bought in 2010;

• Humedica: a Boston-based analytics company bought in 2013; and,

• CentriHealth: developer of an individual health record system acquired in 2017.

In the medical laboratory market, this might also give LabCorp and Quest Diagnostics an inside track given their in-network status with UnitedHealth. However, the larger trend is that the new IHR stands to position UnitedHealth as the central point between patients, doctors, and the overall care experience.

“You might imagine what that could ultimately lead to in terms of continuing to develop a transaction flow between physicians and us and the consumer and us,” Wichmann told investors in their October earnings call, according to Healthcare Informatics. “And us being the custodian to try to drive better health outcomes for people, but also ensure that the highest level of quality is adhered to.”

According to Becker’s Hospital Review, the IHR system is already in testing at three accountable care organizations (ACOs) as of November 2018.

Helping Patients Manage Their Care

The information released in November supports a prediction referenced in Fierce Healthcare by Matt Guldin, a senior analyst at Chilmark Research, that UnitedHealth is focusing on an “Apple-type strategy” with their new platform. However, unlike Apple, UnitedHealth stands to directly benefit from providing a centralized hub of personal health information for consumers looking for ways to manage their care experience while keeping costs affordable in the face of rising premiums and deductibles.

Whether UnitedHealth’s new offering works to replace or supplement existing EHR platforms, their attempt to use data-driven technologies to both shape the healthcare process of benefited members and optimize costs by positioning the company as a middleman between patients and doctors highlights the importance of communicating value for medical laboratory services.

Having a major health insurer develop and launch an electronic health records system with some number of useful functions is one more example of the potential upheavals happening in healthcare today. It is the latest reminder that clinical laboratories and anatomic pathology groups must have a strategy to stay relevant in a medical marketplace that is being transformed by such technologies as the Internet-of-Things, big data, real-time analytics, and artificial intelligence (AI).

For almost 20 years, innovative clinical lab executives and pathologists have pointed out their respective laboratory organizations are information factories. Yet, as of 2019, only a handful of such medical labs have developed services that leverage their lab test data to convert it into actionable intelligence for physicians, patients, and payers—intelligence for which these labs can be paid. UnitedHealth’s plans for its EHR is the latest warning that it is timely for labs to develop informatics strategies that deliver value to the stakeholders they serve.

—Jon Stone

Related Information:

UnitedHealth to Launch ‘Fully Integrated’ EHR Next Year

EHR, PHR or Something In Between? UnitedHealth’s Tech Venture Prompts Skepticism and Intrigue

UnitedHealth to Roll Out Individual Health Record, Predicts What It Will Look like in 10 Years

UnitedHealth to Launch New EHR Service by End of 2019

UnitedHealth Grows Q3 Revenue, Eyes 2019 Expansion

UnitedHealth Plans to Roll Out a New EHR Offering for Consumers and Providers by the End of 2019

UnitedHealth to Debut EHR in 2019: 8 Things to Know

UnitedHealth Group Plans to Unveil Health Record for Members, Providers in 2019

UnitedHealth’s EHR to Serve 50M Members in 2019

UnitedHealth Rolls Out Beta Individual Health Record to 3 ACOs, Touts Promising Early Results

UnitedHealth’s Individual EMR Tested at 3 ACOs, CEO Says

UnitedHealth Group: 50M to Access New Personal Health Record in 2019

Apple’s Update of Its Mobile Health App Consolidates Data from Multiple EHRs and Makes It Easier to Push Clinical Laboratory Data to Patients

Health Insurers Spending Big Dollars to Be Players in ‘Big Data’; Trend Has Implications for Clinical Pathology Laboratories

 

 

Becker’s Hospital Review Lists Top Challenges Facing Hospitals and Health Networks in 2019

Jan 9, 2019 | Compliance, Legal, and Malpractice, Laboratory Management and Operations, Laboratory Operations, Laboratory Pathology, Management & Operations

Rising cost of prescription drugs tops Becker’s list of ‘headwinds’ facing healthcare industry, but no clinical laboratory issues make the list

Clinical laboratory managers and anatomic pathologists working in hospitals and health network systems will find their employers facing many familiar challenges in the coming year. And a report by Becker’s Hospital Review (Becker’s) predicts the top challenges it expects hospitals and health systems to encounter in 2019.

Topping the list is the rising price of prescription pharmaceuticals, which is a chronic strain on the wallets of hospitals, health networks, and patients. However, other items on Becker’s list may be equally challenging.

Readers of Dark Daily who are pathologists and clinical laboratory managers working in hospitals and health systems will find the list presented by Becker’s in “11 Headwinds Facing Hospitals and Health Systems” to be useful at bringing together the main challenges confronting their parent organizations today.

Drug Prices Spiraling Upward

The top challenges facing hospitals and health networks include:

  • “Pharmaceutical costs, particularly non-generic;
  • “Payers expanding into providers and combining with providers;
  • “Payer market share;
  • “Health IT and cybersecurity costs;
  • “Labor costs and a labor-intensive business;
  • “High costs of bricks and mortar;
  • “Medicare as a larger percentage of health system revenue and Medicare reimbursement softening now and over time as federal deficits rise;
  • “Slowing overall healthcare inflation as hospitals rise;
  • “Siphoning off of better paying commercial patients;
  • “Siphoning off of profitable ancillaries; and,
  • “Entry of big technology firms into healthcare.”

Since pharmacy operations consume an estimated 10% to 20% of the average U.S. hospital’s overall operating budget, persistent drug-price increases can be damaging to a hospital’s bottom line. According to PipelineRx, a medication management company, average inpatient drug spending increased 38.7% on a per admission basis (from $714 to $990) from fiscal year 2013-2015.

“Drug prices for both commonly and infrequently used drugs are spiraling up faster than bundled reimbursements can keep up with,” explained PipelineRx.

And the Vizient Drug Price Forecast estimates that in 2019 health systems can expect a 4.92% increase in the price of pharmaceutical purchases. The Vizient forecast for 2018 had projected a 7.61% boost in drug costs.

“While the projected increase for 2019 is less than 2018, it is still growing quickly,” said Dan Kistner, Senior Vice President, Pharmacy Solutions for Vizient, in a news release. “Two key themes we saw were the continued growth of specialty pharmacy products as a share of total spending and the critical importance of ongoing, robust generic and biosimilar competition on restraining overall price growth.”

In spite of pressure from the White House to lower drug prices, Pfizer is one of several large pharma companies that recently announced drug-price increases beginning January 1. The Wall Street Journal (WSJ) reported Pfizer is boosting the prices of 41 prescription drugs—10% of its portfolio. Elliot Wilbur (above), Senior Equity Research Analyst with Raymond James Financial, told the WSJ that drug companies have raised list prices on 263 drugs by an average of 7.8%. (Photo copyright: CNBC.)

While the 2019 increases are below the double-digit averages seen in 2014 and 2015, the American Hospital Association’s “Trends in Hospital Inpatient Drug Costs: Issues and Challenges” report explains the impact of rapidly rising hospital pharmacy costs.

“Hospitals bear a heavy financial burden when the cost of drugs increases and must make tough choices about how to allocate scarce resources. One hospital put the challenge starkly: last year, the price increases for just four common drugs, which ranged between 479% and 1,261%, cost the same amount as the salaries of 55 full-time nurses,” the report noted.

Meanwhile, many of the other items on Becker’s 2019 “headwinds” list will not surprise healthcare administrators, such as:

  • High cost of stand-alone hospitals;
  • Impact of softening Medicare reimbursements;
  • Health insurers’ changing business model; and,
  • The entry of Apple, Google, and other giant technology companies into the healthcare space.

Becker’s list could be a harbinger of tough times ahead. It should make pathologists and clinical laboratory mangers who work within health networks and hospitals mindful of the importance of adding value to their parent organizations while providing their patients with excellent service.

—Andrea Downing Peck

Related Information:

11 Headwinds Facing Hospitals and Health Systems

Vizient Drug Price Forecast Projects Lower Inflation in 2019 than 2018

Trends in Hospital Inpatient Drug Costs: Issues and Challenges

Vizient Forecasts Nearly 5 Percent Hike in Pharmaceutical Prices for 2019, But Also Potential Downward Trend in Spending

Pfizer to Rise Prices on 41 Drugs in January

 

 

Nebula Genomics Offers FREE Whole Genome Sequencing to Customers Willing to Allow Their Data Be Used by Researchers for Drug Development

Jan 7, 2019 | Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Management & Operations

Different model for medical laboratory testing has customers receiving compensation for the use of their genetic data while maintaining control over who receives it and how it is used

Clinical laboratory leaders and anatomic pathologists will agree that offering whole genome sequencing to customers for FREE is unique in the direct-to-consumer (DTC) genetics market. Nevertheless, Nebula Genomics (Nebula), a start-up genetics company in Massachusetts, has announced exactly that.

Founded by George Church, PhD, Harvard Medical School/MIT professor of genetics, health sciences and technology, and Harvard graduates Dennis Grishin, PhD, and Kamal Obbad, Nebula aims to connect customers with scientists to advance biomedical research, according to a news release.

Interested customers answer questions about their health history, physical activities, medications, and more. The information helps them earn Nebula credits toward free genetic information. Researchers then can review this biographic information and elect to subsidize the cost of sequencing specific customers in exchange for access to the resulting genomic data, which they use to develop pharmaceutical drugs and treatments.

Customers wishing to avoid answering questions can pay Nebula $99 for a personal genome sequencing, which delivers a basic analysis of their ancestry and inherited traits.

“Ninety-nine bucks will get you a little bit of genetic information. But to get the full thing, companies or researchers will have to be interested in either your traits or your genome or both,” Church told National Public Radio (NPR).

The “full thing,” as Church put it, is a full genome sequence using next-generation sequencing technology, which costs about $1,000. Nebula uses 30-times genetic coverage during the sequencing, BioSpace explained.

“We are using next-generation sequencing technology. This enables us to generate thousands of times more data from a genome than most of our competitors,” Dennis Grishin, PhD, Nebula’s co-founder and Chief Scientific Officer told Digital Trends.

Kamal-Obbad-George-Church-Dennis-Grishin-Nebula-Genomics-Harvard-MIT

Kamal Obbad (left), George Church, PhD (center), and Dennis Grishin, PhD (right) created Nebula Genomics “to bring the costs of personal genome sequencing down to zero and to address the issues of genomic data ownership and privacy,” Grishin told Digital Trends. “Our mission is to achieve mass adoption of personal genome sequencing, which would lead to a genomic revolution that would transform biomedical research and healthcare.” (Photo copyright: Nebula Genomics.)

Transparency, Blockchain, and Consumer Control of Data

Nebula says its process enables participants to control what genetic data researchers can access and how it is used. According to NPR, the process may begin with a researcher or pharmaceutical firm contacting Nebula expressing interest in studying a group of patients with a specific disease—such as diabetes—adding that Nebula follows up the request with an encrypted search of participants.

“Nebula will enable individuals to get sequenced at much lower cost through sequencing subsidies paid by the biopharma industry,” Church told BioSpace. “We need to bring the costs of personal genome sequencing close to zero to achieve mass adoption.”

According to a Ledger Insights (Enterprise Blockchain News) report, a blockchain platform enables customers to choose how they want their data used and by whom and be compensated for it. But the customers’ actual genomic data is stored on an Arvados storage platform at Veritas Genetics, a genome sequencing company Church also co-founded.

“I’m hopeful that this model (financial reward and control over data) will actually attract people where historically people have been very disinterested in participation in research,” Church told NPR.

Putting DNA Sequences Up for Sale

Nebula Genomics is not the only start-up attempting to match customers with DNA buyers. EncrypGen, a peer-to-peer genomic data marketplace founded in 2016, says that it enables DNA data to be bought and sold with DNA tokens.

EncrypGen’s Chief Executive Officer and co-founder David Koepsell, PhD, told The Scientist that the company has plans to soon offer whole genomic testing through a partner and users may be able to subsidize the $1,500 cost with tokens earned through the platform.

“We are the world’s first blockchain genomic marketplace serving as a benefit to science and the public,” EncrypGen claims on its Website.

Medical laboratory leaders may wonder what impact Nebula’s offer for free whole genome sequencing will have. It may result in many more people participating in whole genome sequencing and having a master blueprint for managing their health, which is a good thing. It’s also possible more studies about drugs to precisely prevent and treat disease will go forward as researchers and customers connect and act.

—Donna Marie Pocius

 

Related Information:

Nebula Genomics Launches Platform Offering Opportunity for Free DNA Sequencing and Control Over Personal Genomic Data: Individuals Can Contribute to Medical Breakthroughs and Get Rewards for Sharing Health and Genomic Data

Start-up Offers to Sequence Your Genome Free of Charge, Then Lets You Profit from It

Nebula Genomics Offers Free Whole Genome Sequencing

This Start-up Will Sequence Your Entire Genome for Free—But There’s a Catch

Nebula Launches DNA Blockchain Platform

Nebula Genomics is Among the First Blockchain-based Companies to Reward Users for Contributing Personal Data for Research

Nebula Genomics Wants to Sequence Your Entire Genome for Free … With One Little Catch

These 30 Under 30 Founders Want Your Genome

Blockchain Technology Could Impact How Clinical Laboratories and Pathology Groups Exchange Lab Test Data

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

;