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Mayo Clinic Researchers Investigate Ways Telomeres Could be Useful in Clinical Laboratory Diagnoses of Diseases Associated with Short Telomere Syndrome

Using precision genomics, Mayo researchers hope to develop improved medical laboratory tools for screening, diagnosing, and treating patients with inherited genetic disorders such as accelerated aging

Telomeres increasingly are on the radars of physicians and healthcare consumers alike, as researchers gain more knowledge about these critical nucleotides, and doctors continue to indicate their belief that telomeres could make useful diagnostic tools. If so, that would open up a new channel of precision medicine testing for clinical laboratories and anatomic pathology groups.

Telomeres are DNA strands that protect chromosome end points from degrading as people age. Their job is similar to the way plastic tips keep shoelaces from fraying, researchers at the Mayo Clinic explained in a news release. They have been using precision genomics in their assessment of 17 patients with short telomere syndrome (STS) to uncover the genetic causes of the condition.

They published their findings in the July issue of Mayo Clinic Proceedings.

Using Genetic Sequencing to Find Causes of Short Telomeres

People with STS could develop conditions including bone marrow failure, liver disease, and lung disease earlier in life than others, the news release pointed out.

However, according to the researchers’ paper, “Management of STSs is fraught with significant challenges such as delayed diagnoses, lack of routinely available diagnostics modalities, and standardized treatment guidelines.”

Nevertheless, some physicians are already leveraging information about telomeres in patient treatment. And many consumers have been turning to telomere diagnostic testing companies to learn the lengths of their own telomeres. They’ve learned that the longer the telomeres the better, as shorter telomeres are associated with accelerated aging.

“The length of certain telomeres gives a history of all the assaults a person has been subject to over the course of her lifetime,” a Wired article noted, quoting Joseph Raffaele, MD, co-founder of PhysioAge Medical Group, a clinical practice in New York City that specializes in “proactive” medicines. He goes on to call telomeres “the new cholesterol.” (Photo copyright: drraffaele.com.)

More Study into STS is Needed

GenomeWeb summarized the Mayo study’s methodology as follows:

  • “An analysis of data from 17 patients with STS confirmed by flow-FISH (fluorescence in situ hybridization) occurred;
  • Next-generation sequencing (NGS) was used on eight STS-related genes; and,
  • Exome sequencing was deployed to find suspicious germline alterations in participants who had short telomeres without STS variants.”

Researchers reported these findings in Mayo Clinic Proceedings:

Study authors concluded that while some genetic mutations are common to short telomeres, they were found in only about 40% of the people in their study. So, more research is needed to discover other causes of short telomeres.

Telomeres and Lung Disease

Other research into telomeres was conducted by St. Paul’s Hospital and the University of British Columbia Department of Medicine, which focused on telomeres and lung disease.

In this study, researchers used polymerase chain reaction (PCR) to measure absolute telomere length from blood samples provided by 576 people with chronic obstructive pulmonary disease (COPD), according to a paper in the journal CHEST, published by the American College of Chest Physicians.

The study found that when compared to people with normal blood telomeres, people with shorter telomere lengths and more rapidly aging blood cells:

  • Were 50% more likely to develop new or increasing respiratory symptoms;
  • Were nine times more likely to die; and,
  • Had worse health status and quality of life.

“It is known that short telomeres are associated with common morbidities of COPD, but it was not known if there is a relationship between blood telomeres and patient-related outcomes in COPD,” Don Sin, MD, a chest physician who led the research at the Centre for Heart Lung Innovation at St. Paul’s Hospital, stated in a news release.

Other Takes on Telomeres

A Harvard Medical blog noted, however, that short telomeres do not necessarily mean disease is imminent, nor that long ones guarantee optimal health.

“There is mounting evidence that a healthy lifestyle buffers your telomeres,” stated Immaculata De Vivo, PhD, a Harvard Medical School Professor and Genetics Researcher at the Dana-Farber/Harvard Cancer Center, in the blog post.

However, another expert questions the value of measuring telomeres for disease risk.

“In short, telomere lengths are too variable within a population, too variable within an individual, and too sensitive to environmental factors to offer any reliable information for common disease risk,” wrote Ricki Lewis, PhD, in PLOS.

Although there are many pitfalls to overcome, some doctors are pushing to use telomere information in patient treatment, and these studies from the Mayo Clinic and other researchers have contributed important data for diagnostic test developers.

In the end, vast and varied content about telomeres exists and clinical laboratory professionals may be called on to help clarify and assess the information. And that’s the long and the short of it.

—Donna Marie Pocius

Related Information:

Precision Genomics Point the Way to Mutations Associated with Accelerated Aging

Telomeres Are the New Cholesterol. Now What?

Clinical Correlates and Treatment Outcomes for Patients with Short Telomeres Syndrome

Mayo Clinic Researchers Use Targeted Sequencing to Diagnose Short Telomere Syndrome

Relationship of Absolute Telomere Length with Quality of Life, Exacerbations, and Mortality in COPD

Blood Telomeres Can Help Predict Risk of Disease Worsening or Death in COPD Patients

Can DNA Markers Called Telomeres Predict Aging?

Telomere Testing: Science or Snake Oil?

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

Summit: Breakthroughs with Genetic and Precision Medicine: What All Health Network CEOs Need to Know

Bloodless Malaria Test Could Signal Major Breakthrough for Early Detection of Diseases Using Light Instead of Traditional Clinical Laboratory Tests

This low-cost, reusable noninvasive light test could serve as a prototype for detecting other biomarkers and diseases in rural and outlying medical laboratories

A 24-year-old Ugandan computer scientist whose own malaria was missed by traditional clinical laboratory blood tests has developed a device that detects signs of the disease using a beam of light directed onto a patient’s finger. The light highlights and detects changes in the color, shape, and concentration of red bloods cells affected by disease.

Brian Gitta, CEO and co-founder of computer software company thinkIT Limited, became the youngest winner of the UK’s Royal Academy of Engineering Africa Prize for Engineering Innovation. His eHealth solution is called Matibabu, which means “treatment” in Swahili.

Gitta and his team are developing a low-cost, reusable device that clips onto a patient’s finger and provides malaria test results within 60 seconds through a mobile phone app, UPI.com reported. The latest Matibabu prototype uses a ‘hybrid of magnetic-optic technology and electro-impedance technology’ to detect the disease,” according to a blog post on the thinkIT website.

“Our next step is to determine the validity and reliability of the Matibabu device compared with the gold standard microscopy and RDT by conducting field tests with malaria patients in selected health facilities in order to obtain information that will be used to improve the device, and eventually roll it out to the market,” the blog post states.

The Matibabu malaria detection device (above) uses the principles of light scattering and magnetism to detect changes to red blood cells that signal disease. The low-cost, reusable device from thinkIT Limited has advanced through several prototypes and now has an estimated 80% accuracy rate. (Photo copyright: Makerere University College of Engineering, Design, Art and Technology.)

TechCrunch reported that the current generation of Matibabu is about 80% accurate, with the expectation that further development will increase the device’s accuracy to 90-95%.

While this new diagnostic technology needs further development and clinical studies, it could potentially be used for other biomarkers and diseases besides malaria. However, according to the Centers for Disease Control and Prevention (CDC), rapid diagnostic tests (RDTs) like this are not yet widely used, so speed-of-diagnosis also is an issue.

Nevertheless, if successful, such a non-invasive test for malaria would be a major breakthrough since, today, the mosquito-borne disease must be confirmed by medical laboratory blood tests using either microscopic diagnosis or antigen detection, which are costly and time consuming.

“It’s a perfect example of how engineering can unlock development—in this case by improving healthcare,” Rebecca Enonchong, Africa Prize judge, noted in a Royal Academy of Engineering statement. “Matibabu is simply a gamechanger.”

Africa Prize judge Rebecca Enonchong (left) presents Ugandan Brian Gitta (right) of Matibabu with the Africa Prize winner’s medal. (Photo/caption copyright: Royal Academy of Engineering.)

Shafik Sekitto, Matibabu Vice President of Business Development, told BBC World News that Gitta’s own battle with malaria was prolonged because the first three blood tests failed to diagnose his disease. “[Gitta] brought up the idea: ‘Why can’t we find a new way of using the skills we have in computer science—of diagnosing a disease without having to prick somebody?’” Sekitto explained.

Malaria Threatens Half the World’s Population

The World Health Organization (WHO) estimates that nearly half the world’s population is at risk of malaria. According to WHO estimates, in 2015 there were 429,000 deaths worldwide from malaria, with 90% of cases and 92% of deaths in sub-Saharan Africa.

The Africa Prize, which includes a $33,400 (124-million Uganda shillings) award, is Africa’s biggest prize dedicated to engineering innovation. Its sponsors aim to encourage engineers from sub-Saharan Africa “to apply their skills to develop scalable solutions to local challenges.” In addition to funding, award recipients also receive business training, mentoring, and access to the Royal Academy of Engineering’s network of high profile and experienced engineers and experts, and their networks.

Gitta expects the award of the Africa Prize will help thinkIT Limited better navigate the difficult process of gaining worldwide regulatory approval for a new diagnostic device.

“It’s such a big achievement for us, because it means that we can better manage production in order to scale clinical trials and prove ourselves to regulators,” he predicted in the Royal Academy of Engineering statement. “The recognition will help us open up partnership opportunities—which is what we need most at the moment.”

Many pathologists and clinical laboratory managers are watching the efforts of various companies to develop medical laboratory tests that can be performed with a device that is coupled to a smartphone and can be performed as a point-of-care test. A substantial proportion of these research efforts are targeting the needs for accurate diagnostic testing in developing countries. That’s because of the need for cheap, fast, and accurate assays that can be performed in the rural areas of these nations.

—Andrea Downing Peck

Related Information:

Ugandan Inventor Wins Africa Prize for Bloodless Malaria Test

Ugandan Innovation Wins the Africa Prize for Engineering Innovation

Ugandan Wins Africa Prize for Bloodless Malaria Test

Matibabu Uses Light to Diagnose Malaria

Matibabu Wins the Africa Prize for Engineering Innovation

 

 

Latest Push by CMS for Increased Price Transparency Highlights Opportunities and Risks for Clinical Laboratories, Pathology Groups

As federal regulatory agencies continue to push transparency, hospitals, medical labs, anatomic pathology groups, and other healthcare providers must develop strategies for remaining competitive and maintaining patient volume

More price transparency continues to be a goal of Medicare officials. Some clinical laboratory managers and pathologists may be unaware of a proposed rule issued by the federal Centers for Medicare and Medicaid Services (CMS) in April that would require hospitals to post prices online as early as this January 1, 2019.

This action is a definitive demonstration of how the federal healthcare program continues to scrutinize how healthcare organizations communicate with patients and post their prices. This pressure on healthcare systems and individual providers extends to the clinical laboratories and anatomic pathology groups that support them. Without a plan to address these changes, medical laboratory test volume and practice revenues can be severely impacted.

Recent coverage from RevCycleIntelligence indicates that this trend is only just getting started.

“When you go to receive a healthcare service, there are always going to be situations where you can’t know what the costs will be, especially around emergency situations and some acute situations,” Centers for Medicare and Medicaid (CMS) Administrator Seema Verma told RevCycleIntelligence. “But for a lot of us, we’re going in for planned procedures. You should be able to know what it’s going to cost you.”

In April 2018, CMS posted a proposed rule that requires hospitals to post standard service rates online and update their pricing lists at least annually starting January 1, 2019. While many healthcare organizations currently report pricing to state boards and other online directories, this rule, if enacted, could make it easier for consumers to source reliable pricing information before obtaining care.

“We are concerned that challenges continue to exist for patients due to insufficient price transparency. Such challenges include patients being surprised by out-of-network bills for physicians—such as anesthesiologists and radiologists who provide services at in-network hospitals—and patients being surprised by facility fees and physician fees for emergency room visits. We also are concerned that chargemaster data are not helpful to patients for determining what they are likely to pay for a particular service or hospital stay,” the CMS proposed rule states.

In the proposed rule that references out-of-network bills, pathologists should have been included as a hospital-based physician service—such as anesthesiologists and radiologists—that submits bills to patients for care provided in the hospital. Pathology practice administrators may want to review the specific language of the proposed rule to understand how hospitals served by the pathology group will be required to post prices.

Seema Verma

“If you’re buying a car or pretty much anything else, you’re able to do some research,” Seema Verma (above), Administrator, Centers for Medicare and Medicaid Services told RevCycleIntelligence. “You’re able to know what the quality is. You’re able to make comparisons. Why shouldn’t we be able to do that in healthcare? Every healthcare consumer wants that.” (Photo copyright: Centers for Medicare and Medicaid Services.)

Transparency Concerns Lead to Additional Questions from CMS

Alongside the proposed rule, CMS also is issuing a request for information (RFI) to give healthcare experts an opportunity to:

  1. Demonstrate the impact of current proposals; and,
  2. Make recommendations to further align the proposal with both the needs of healthcare organizations and service providers as well as the cost-reduction goals of CMS.

Key questions, according to RevCycleIntelligence, include:

  • How should “standard charges” be defined (e.g., average or median rates for chargemaster items; average or median rates for groups of services commonly billed together as determined by the hospital; or average discount off the chargemaster amount across all payers)?
  • What types of information would help patients understand hospital prices and patient financial responsibility? How should hospitals use this information to inform patients and decision-making?
  • Should healthcare providers be required to tell patients about their out-of-pocket costs for a service prior to care delivery? Should providers even play a role in informing patients of out-of-pocket costs?
  • Should CMS require providers to give patients information on what Medicare pays for a service?
  • How should CMS enforce healthcare price transparency requirements? Should hospitals have to attest to meeting requirements?

Implications for Healthcare Services and Diagnostics Providers

RevCycleIntelligence reports that between CMS rules and bills introduced by Senators, an increase in healthcare transparency pricing is likely. These requirements will continue to apply pressure to clinical laboratories, anatomic pathology groups, and other diagnostics providers.

Much like the importance of communicating value to the new wave of payer and physician partnerships emerging around the country, transparency will offer an opportunity to communicate value to consumers.

However—particularly for high-margin services and assays—laboratories must create strategies to address pricing transparency and communicate the value of their services if they hope to maintain volumes and financial integrity at existing levels.

A study conducted by Johns Hopkins University researchers and published in The American Surgeon also highlights benefits that transparency might hold outside of simple regulatory compliance.

Analyzing data from six ambulatory care centers from 2016, they found that five out of six reported increases in both patient volume and revenue after adopting price transparency. Half of the centers also reported a reduction in administrative burden—a concern that medical laboratories must also address as streamlining operations and optimizing efficiency becomes a core part of successful lab operation in the face of healthcare reform.

Clinical laboratories and anatomic pathology groups should develop a strategy for addressing new transparency requirements. That strategy should include ways to effectively communicate their value to both healthcare providers and consumers. Should the CMS proposed rule progress to a final rule, failure to address pricing transparency may result in enforcement and compliance concerns—a critical issue for laboratories already facing tighter markets and increased regulatory and payer scrutiny.

—Jon Stone

 

Related Information:

“Just the Beginning” of Healthcare Price Transparency, Verma Says

CMS Aims to Catalyze Advancements in Consumer Price Transparency

Verma: CMS Will “Use Every Lever” for Promoting Interoperability, Data Access

CMS to Require Healthcare Price Transparency Online for Hospitals

Publish Your Prices, Boost Your Bottom Line

Healthcare Price Transparency in U.S. Not Improved in Recent Years

The Impact of Price Transparency for Surgical Services

Patients’ Views on Price Shopping and Price Transparency

Could Clinical Laboratories and Pathologists Have a New Use for DNA as a Data Storage Technology?

Researchers in Boston are working to develop DNA as a low-cost, effective way to store data; could lead to new molecular technology industries outside of healthcare

Even as new insights about the role of DNA in various human diseases and health conditions continue to tumble out of research labs, a potential new use for DNA is emerging. A research team in Boston is exploring how to use DNA as a low-cost, reliable way to store and retrieve data.

This has implications for the nation’s clinical laboratories and anatomic pathology groups, because they are gaining experience in sequencing DNA, then storing that data for analysis and use in clinical care settings. If a way to use DNA as a data storage methodology was to become reality, it can be expected that medical laboratories will have the skillsets, experience, and information technology infrastructure already in place to offer a DNA-based data storage service. This would be particularly true for patient data and healthcare data.

Finding a way to reduce the cost of data storage is a primary reason why scientists are looking at ways that DNA could be used as a data storage technology. These scientists and technology developers seek ways to alleviate the world’s over-crowded hard drives, cloud servers, and databases. They hope this can be done by developing technologies that store digital information in artificially-made versions of DNA molecules.

The research so far suggests DNA data storage could be used to store data more effectively than existing data storage solutions. If this proves true, DNA-based data storage technologies could play a key role in industries outside of healthcare.

If so, practical knowledge of DNA handling and storage would be critical to these companies’ success. In turn, this could present unique opportunities for medical laboratory professionals.

DNA Data Storage: Durable but Costly

Besides enormous capacity, DNA-based data storage technology offers durability and long shelf life in a compact footprint, compared to other data storage mediums.

“DNA has an information-storage density several orders of magnitude higher than any other known storage technology,” Victor Zhirnov, PhD, Chief Scientist and Director, Semiconductor Research Corporation, told Wired.

However, projected costs are quite high, due to the cost of writing the information into the DNA. However, Catalog Technologies Inc. of Boston thinks it has a solution.

Rather than producing billions of unique bits of DNA, as Microsoft did while developing its own DNA data storage solution, Catalog’s approach is to “cheaply generate large quantities of just a few different DNA molecules, none longer than 30 base pairs. Then [use] billions of enzymatic reactions to encode information into the recombination patterns of those prefab bits of DNA. Instead of mapping one bit to one base pair, bits are arranged in multidimensional matrices, and sets of molecules represent their locations in each matrix.”

The Boston-based company plans to launch an industrial-scale DNA data storage service using a machine that can daily write a terabyte of data by leveraging 500-trillion DNA molecules, according to Wired. Potential customers include the entertainment industry, federal government, and information technology developers.

Catalog is supported by $9 million from investors. However, it is not the only company working on this. Microsoft and other companies are reportedly working on DNA storage projects as well.

“It’s a new generation of information storage technology that’s got a million times the information density, compared to flash storage. You can shrink down entire data centers into shoeboxes of DNA,” Catalog’s CEO, Hyunjun Park, PhD (above center, between Chief Science Officer Devin Leake on left and Milena Lazova, scientist, on right), told the Boston Globe. (Photo copyright: Catalog.)

Microsoft, University of Washington’s Synthetic DNA Data Storage

Microsoft and researchers at the University of Washington (UW) made progress on their development of a DNA-based storage system for digital data, according to a news release. What makes their work unique, they say, is the large-scale storage of synthetic DNA (200 megabytes) along with the ability to the retrieve data as needed.

“Synthetic DNA is durable and can encode digital data with high density, making it an attractive medium for data storage. However, recovering stored data on a large-scale currently requires all the DNA in a pool to be sequenced, even if only a subset of the information needs to be extracted,” the researchers wrote in their paper published in Nature Biotechnology.

“Here, we encode and store 35 distinct files (over 200 megabytes of data ) in more than 13-million DNA oligonucleotides and show that we can recover each file individually and with no errors, using a random access approach,” the researchers explained.

“Our work reduces the effort, both in sequencing capacity and in processing, to completely recover information stored in DNA,” Sergey Yekhanin, PhD, Microsoft Senior Researcher, told Digital Trends.

Successful research by Catalog, Microsoft, and others may soon lead to the launch of marketable DNA data storage services. And medical laboratory professionals who already know the code—the life code that is—will likely find themselves more marketable as well!

—Donna Marie Pocius

Related Information:

The Rise of DNA Data Storage

The Next Big Thing in Data Storage is Actually Microscopic

Catalog Hauls in $9 Million to Make DNA-Based Data Storage Commercially Viable

UW and Microsoft Researchers Achieve Random Access in Large-Scale DNA Data Storage

Random Access in Large-Scale DNA Data Storage

Microsoft and University of Washington Show DNA Can Store Data in Practical Way

Online Negative Reviews Can Threaten Clinical Laboratories Not Prepared to Address Feedback or Manage Their Internet Presence

As consumers increasingly choose physicians and service providers based on other people’s feedback on review websites, Internet-based customer service programs are becoming critical business tools for clinical laboratories and pathology groups

Clinical laboratory managers are becoming increasingly aware that negative reviews on anonymous online review sites, such as Yelp and others, can negatively impact revenues.

Official sources and surveys, such as Medicare’s Hospital Consumer Assessment of Healthcare Providers and Systems (HCAHPS), already provide information and ratings on healthcare service providers. However, recent coverage in Healthcare Dive highlights how consumers are finding the narrative reviews on websites such as Yelp more accessible and relatable. And, that these reviews focus on the criteria consumers find most important.

“We’re moving to a health system where patient ratings are becoming more important, [one] where top-down ratings are really inaccessible to patients and probably not that useful,” Yevgeniy Feyman, PhD, told Healthcare Dive. Feyman, along with Paul Howard, PhD, co-authored the Manhattan Institute report, “Yelp for Health.”

In the report, they examined the correlation between Yelp reviews of New York hospitals and objective measures of hospital quality. “We find that higher Yelp ratings are correlated with better-quality hospitals and that they provide a useful, clear, and reliable tool for comparing the quality of different facilities as measured by potentially preventable readmission rates (PPR), a widely accepted metric,” they stated.

This is a significant finding for clinical laboratory administrators and pathologists. It demonstrates that how patients review their provider experiences does align with objective measures of provider quality that may be public, but are not as easy for consumers to find as websites like Yelp, Healthgrades, and others.

Online Reviews: A Metric for Determining Healthcare Value and Quality?

Andrea Ducas, Senior Program Manager with the Robert Wood Johnson Foundation (RWJF), told Healthcare Dive the primary considerations patients use to pick providers include:

  • “Treats patients with respect;
  • “Accepts insurance;
  • “Shares in decision-making;
  • “Responsiveness to phone calls; and,
  • “Professional skill.”

Research into how patients find/choose their physicians conducted by OnePoll and commissioned by Binary Fountain determined that, of more than 1,000 adults surveyed:

  • “95% of respondents regard online ratings and reviews as ‘somewhat’ to ‘very’ reliable;
  • “75% of Americans say online ratings and review sites have influenced their decision when choosing a physician; and,
  • “30% of consumers share their own healthcare experiences via social media and online ratings and review sites.”

Common research sources listed by respondents included:

Can Online Reviews Damage Healthcare Providers?

“Given that the majority of quality measures out there … aren’t really that accessible for patients, this is a very good proxy,” Feyman told U.S. News in a report on physicians’ concerns about the use and popularity of review sites.

“[T]he emphasis placed on a small number of patient opinions—far fewer patients leave reviews than are treated in a typical health system—makes it harder for doctors to do their job for fear of a career-harming bad review. And a few negative posts from disgruntled patients could unfairly skew public perception—and eventually, a provider’s bottom line,” U.S. News noted.

Despite this, Luther Lowe, Yelp’s Senior Vice President of Public Policy and Government Affairs, assured Healthcare Dive they have processes to “filter spam and quell suspicious activity daily.”

Online reviews recently played an important role in the Wall Street Journal (WSJ) exposé on Theranos, which Dark Daily covered in 2016. Investigative reporter John Carreyrou (above) used Yelp to locate patients who reported negative experiences with specific healthcare services and practices. He described how he used the platform during a presentation to the Association of Health Care Journalists (AHCJ) in April 2018. Click on this link to watch a video of Carreyrou’s presentation. (Photo copyright: Association of Healthcare Journalists.)

Negative Reviews: A Critical Concern for Medical Laboratories

Consumers continue to use Internet platforms to both share ratings and compare information on healthcare professionals and the clinical laboratories supporting them. Thus, to prevent damage from negative reviews, labs must actively monitor feedback, pursue inaccurate information posted online, and encourage consumers to provide positive feedback and opinions.

According to data from Alexa, Yelp is the 32nd most visited website in the United States. Yelp’s own data reports that more than 150-million reviews have been added to the site since its inception 13 years ago.

And, Yelp categorizes 7% of the reviewed businesses as “health-related.”

Between easy-to-access information distributed online and an increased push for transparency, clinical laboratories and other healthcare service providers must work to take charge of the narrative created about their businesses and encourage positive feedback on these developing platforms.

Failing to do so could cost laboratories the physicians’ practices they service.

“There are some providers who are trying to get ahead of the curve and post reviews directly on their website,” Ducas told Healthcare Dive. “Another thing they can do is encourage their patients to read some reviews online and invite them to leave feedback. That’s a radical invitation but it’s certainly something they can do.”

As healthcare customers increasingly turn to review sites for feedback about healthcare facilities and the service providers supporting them, clinical laboratories and anatomic pathology groups must focus on their Internet presence and respond quickly to any negative review feedback with great customer service.

—Jon Stone

Related Information:

Providers Jittery over ‘Yelpification’ of Healthcare

Highlights from the Healthcare Consumer Insight and Digital Engagement Survey

Yelp Proving to Be Reliable for Hospital Reviews, Addresses 12 More Measures than HCAHPS Scores

Using Yelp for Your Health

Most Top Hospital Online Reviews Are Lukewarm or Negative

Hospitals That Receive Top Marks in Quality Rankings Earn Mediocre Reviews Online, Analysis Finds

Study: Nearly 63% of Yelp Reviewers Give Top-Ranked Hospitals Mediocre to Poor Ratings

Study Suggests Yelp Can Help People Find Quality Healthcare

Yelp for Health: Using the Wisdom of Crowds to Find High-Quality Hospitals

Federal Appeals Court Rules Yelp Not Responsible for Bad Reviews; Labs Advised to Examine Their Online Presence

Penn State University College of Medicine Pilot Study Finds MicroRNA in Saliva Can Be Used in Diagnosis and Treatment of Concussions in Children

Identifying patients who will likely develop prolonged concussion symptoms could lead to new clinical laboratory tests and personalized medicine treatments

Researchers are homing in on a new diagnostic assay for concussion that could potentially generate significant numbers of test referrals to the nation’s clinical laboratories. This innovative work is targeting how concussions are diagnosed and treated.

Each year, thousands of children receive sports-related injuries, including concussions. There are ways for anatomic pathologists and hospital medical laboratories to diagnose concussions; however, testing can be invasive and doesn’t always reveal a complete picture of the injury state.

Additionally, about one third of children with concussions develop prolonged symptoms. However, when prescribing treatment plans, physicians have been unable to predict which patients are likely to recover quickly versus those who will have a longer recovery.

Now, researchers at Penn State College of Medicine (Penn State) believe they have discovered five microRNAs in saliva that could be used to identify patients who will likely experience prolonged concussion symptoms even one month after the initial injury.

The study also found that certain materials in saliva can help diagnose the severity of concussions and could hold the key to more effective clinical laboratory tests and personalized medicine treatments.

The Penn State researchers published their study results in JAMA Pediatrics, a publication of the Journal of the American Medical Association (JAMA).

Concussion Leading Sports-related Brain Injury

There are approximately 3.8 million sports and recreation-related traumatic brain injuries in the United States each year and the majority of those cases are concussions, according to The Concussion Place. Most concussions treated in emergency rooms are due to falls, motor-vehicle related injuries, being struck by an object, assaults, or playing sports.

Also known as mild traumatic brain injuries (mTBI), concussions are caused by blows or jolts to the head or body that cause the brain to move with excessive force inside the skull. The sudden impact damages brain cells and causes chemical changes within the brain that alter normal functioning. Though usually not life threatening, the damage can be serious and linger for months.

Symptoms of concussion include: headaches, fatigue, nausea, vomiting, dizziness, balance problems, confusion, memory problems, sleep disturbances, and double or blurry vision. Symptoms usually occur immediately, but could take days or even weeks to appear.

Identifying Severity/Predicting Prolonged Symptoms of Traumatic Brain Injuries

After a concussion occurs, brain cells release small fragments of genetic material known as microRNAs while they attempt to repair themselves. A portion of these microRNAs appear in the injured person’s blood and saliva.

In order to determine whether these microRNAs could be used to determine the severity of a traumatic brain injury and predict whether prolonged symptoms would occur, the prospective cohort study researchers gathered saliva samples from 52 concussion patients between the ages of seven and 21:

  • The average age of the subjects was 14;
  • Twenty-two of the participants were female;
  • They were all athletes; and,
  • The majority of the samples were collected one to two weeks after the initial injury.

The researchers examined distinct microRNAs in the samples and identified some that enabled them to predict how long a patient’s concussion symptoms might last. In addition, they found one microRNA in children and young adults that accurately predicted which subjects would experience memory and problem-solving difficulties as part of their symptomatology.

The researchers also evaluated the concussion patients using the Sport Concussion Assessment Tool (SCAT-3), Third Edition. Physicians use this questionnaire to assess the symptoms and severity of concussions. The researchers also asked the parents of the concussed patients for observations about their children’s symptoms.

During follow up visits, which occurred at four- and eight-week increments following the original assessment, the Penn State researchers collected additional saliva samples and re-evaluated the patients using SCAT-3.

New Biomarkers Based on MicroRNAs Instead of Protein

“There’s been a big push recently to find more objective markers that a concussion has occurred, instead of relying simply on patient surveys,” Steven Hicks, MD, PhD, Assistant Professor of Pediatrics, Penn State College of Medicine, Hershey, Pa., one of the study researchers, told Penn State News.

“Previous research has focused on proteins, but this approach is limited because proteins have a hard time crossing the blood-brain barrier. What’s novel about this study is we looked at microRNAs instead of proteins, and we decided to look in saliva rather than blood,” he noted.

According to Steven Hicks, MD, PhD (above), who worked on the Penn State College of Medicine study, microRNAs could be more accurate than the traditional questionnaire when diagnosing and forecasting the effects of concussions. “The microRNAs were able to predict whether symptoms would last beyond four weeks with about 85% accuracy,” he told Penn State News. “In comparison, using the SCAT-3 report of symptoms alone is about 64% accurate. If you just go off the parent’s report of symptoms, it goes down to the mid-50s. In this pilot study, these molecular signatures are outperforming survey tools.” (Photo copyright: MD Magazine.)

The goal of this research was to develop a way to definitively ascertain that a concussion had occurred, predict the length and type of symptoms, and then use that data to improve and personalize care for children and young adults who have had a concussion.

“With that knowledge physicians could make more informed decisions about how long to hold a child out of sports, whether starting more aggressive medication regimens might be warranted, or whether involving a concussion specialist might be appropriate,” Hicks told MD Magazine. “Anytime we can use accurate, objective measures to guide medical care, I think that represents an opportunity to improve concussion treatment.”

Further research and clinical trials will be needed to solidify the effectiveness and accuracy of these new biomarkers. However, a rapid, non-invasive saliva test that can determine the severity of a concussion, and predicted whether prolonged symptoms will likely occur, would be widely used and could be an important assay for clinical laboratories. Particularly those associated with hospital medical laboratories and emergency rooms.

—JP Schlingman

Related Information:

Association of Salivary MicroRNA Changes with Prolonged Concussion Symptoms

Saliva Test May Detect Biomarker for Prolonged Concussion

Molecules in Spit May be Able to Diagnose and Predict Length of Concussions

Prolonged Concussion Symptoms Identifiable by Salivary MicroRNA

Spit Test May Help Reveal Concussion Severity

Saliva Test May Lead to Improved Concussion Care for Youths

 

 

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