May 7, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory Pathology, Laboratory Testing
Genomic analysis of pipes and sewers leading from the National Institutes of Health Clinical Care Center in Bethesda, Md., reveals the presence of carbapenem-resistant organisms; raises concern about the presence of multi-drug-resistant bacteria previously undetected in hospital settings
If hospitals and medical laboratories are battlegrounds, then microbiologists and clinical laboratory professionals are frontline soldiers in the ongoing fight against hospital-acquired infections (HAIs) and antibiotic resistance. These warriors, armed with advanced testing and diagnostic skills, bring expertise to antimicrobial stewardship programs that help block the spread of infectious disease. In this war, however, microbiologists and medical laboratory scientists (AKA, medical technologists) also often discover and identify new and potential strains of antibiotic resistance.
One such discovery involves a study published in mBio, a journal of the American Society for Microbiology (ASM), conducted by microbiologist Karen Frank, MD, PhD, D(AMBB), Chief of the Microbiology Service Department at the National Institutes of Health (NIH), and past-president of the Academy of Clinical Laboratory Physicians and Scientists (ACLPS). She and her colleagues identified a surprising source of carbapenem-resistant organisms—the plumbing, sewers, and wastewater beneath the National Institutes of Health Center (NIHCC) in Bethesda, Md. And they theorize similar “reservoirs” could exist beneath other healthcare centers as well.
Potential Source of Superbugs and Hospital-Acquired Infections
According to the mBio study, “Carbapenemase-producing organisms (CPOs) are a global concern because of the morbidity and mortality associated with these resistant Gram-negative bacteria. Horizontal plasmid transfer spreads the resistance mechanism to new bacteria, and understanding the plasmid ecology of the hospital environment can assist in the design of control strategies to prevent nosocomial infections.”
Karen Frank, MD, PhD (above), is Chief of the Microbiology Service Department at the National Institutes of Health and past-president of the Academy of Clinical Laboratory Physicians and Scientists. She suggests hospitals begin tracking the spread of the bacteria. “In the big picture, the concern is the spread of these resistant organisms worldwide, and some regions of the world are not tracking the spread of the hospital isolates.” (Photo copyright: National Institutes of Health.)
Frank’s team used Illumina’s MiSeq next-generation sequencer and single-molecule real-time (SMRT) sequencing paired with genome libraries, genomics viewers, and software to analyze the genomic DNA of more than 700 samples from the plumbing and sewers. They discovered a “potential environmental reservoir of mobile elements that may contribute to the spread of resistance genes, and increase the risk of antibiotic resistant ‘superbugs’ and difficult to treat hospital-acquired infections (HAIs).”
Genomic Sequencing Identifies Silent Threat Lurking in Sewers
Frank’s study was motivated by a 2011 outbreak of antibiotic-resistant Klebsiella pneumoniae bacteria that spread through the NIHCC via plumbing in ICU, ultimately resulting in the deaths of 11 patients. Although the hospital, like many others, had dedicated teams working to reduce environmental spread of infectious materials, overlooked sinks and pipes were eventually determined to be a disease vector.
In an NBC News report on Frank’s study, Amy Mathers, MD, Director of The Sink Lab at the University of Virginia, noted that sinks are often a locus of infection. In a study published in Applied and Environmental Microbiology, another journal of the ASM, Mathers noted that bacteria in drains form a difficult to clean biofilm that spreads to neighboring sinks through pipes. Mathers told NBC News that despite cleaning, “bacteria stayed adherent to the wall of the pipe” and even “splashed out” into the rooms with sink use.
During the 2011-2012 outbreak, David Henderson, MD, Deputy Director for Clinical Care at the NIHCC, told the LA Times of the increased need for surveillance, and predicted that clinical laboratory methods like genome sequencing “will become a critical tool for epidemiology in the future.”
Frank’s research fulfilled Henderson’s prediction and proved the importance of genomic sequencing and analysis in tracking new potential sources of infection. Frank’s team used the latest tools in genomic sequencing to identify and profile microbes found in locations ranging from internal plumbing and floor drains to sink traps and even external manhole covers outside the hospital proper. It is through that analysis that they identified the vast collection of CPOs thriving in hospital wastewater.
In an article, GenomeWeb quoted Frank’s study, noting that “Over two dozen carbapenemase gene-containing plasmids were identified in the samples considered” and CPOs turned up in nearly all 700 surveillance samples, including “all seven of the wastewater samples taken from the hospital’s intensive care unit pipes.” Although the hospital environment, including “high-touch surfaces,” remained free of similar CPOs, Frank’s team noted potential associations between patient and environmental isolates. GenomeWeb noted Frank’s findings that CPO levels were in “contrast to the low positivity rate in both the patient population and the patient-accessible environment” at NIHCC, but still held the potential for transmission to vulnerable patients.
Antibiotic-Resistance: A Global Concern
The Centers for Disease Control and Prevention (CDC) reports that more than two million illnesses and 23,000 deaths in the US are caused each year by antibiotic resistance, with 14,000 deaths alone linked to antibiotic resistance associated with Clostridium difficile infections (CDI). Worldwide those numbers are even higher.
Second only to CDI on the CDC’s categorized list of “18 drug-resistant threats to the United States” are carbapenem-resistant Enterobacteriaceae (CRE).
Since carbapenems are a “last resort” antibiotic for bacteria resistant to other antibiotics, the NIHCC “reservoir” of CPOs is a frightening discovery for physicians, clinical laboratory professionals, and the patients they serve.
The high CPO environment in NIHCC wastewater has the capability to spread resistance to bacteria even without the formal introduction of antibiotics. In an interview with Healthcare Finance News, Frank indicated that lateral gene transfer via plasmids was not only possible, but likely.
“The bacteria fight with each other and plasmids can carry genes that help them survive. As part of a complex bacterial community, they can transfer the plasmids carrying resistance genes to each other,” she noted. “That lateral gene transfer means bacteria can gain resistance, even without exposure to the antibiotics.”
The discovery of this new potential “reservoir” of CPOs may mean new focused genomic work for microbiologists and clinical laboratories. The knowledge gained by the discovery of CPOs in hospital waste water and sinks offers a new target for study and research that, as Frank concludes, will “benefit healthcare facilities worldwide” and “broaden our understanding of antimicrobial resistance genes in multi-drug resistant (MDR) bacteria in the environment and hospital settings.”
—Amanda Warren
Related Information:
Genomic Analysis of Hospital Plumbing Reveals Diverse Reservoir of Bacterial Plasmids Conferring Carbapenem Resistance
Snooping Around in Hospital Pipes, Scientists Find DNA That Fuels the Spread of Superbugs
CSI Bethesda: Sleuths Used Sequenced Genome to Track Down Killer
Antibiotic/Antimicrobial Resistance
Study Tracks How Superbugs Splash Out of Hospital Sink Drains
CDC: Biggest Threats
Antimicrobial Stewardship: How the Microbiology Laboratory Can Right the Ship
Superbugs Breeding in Hospital Plumbing Put Patients at Risk
Microbiologists at Weill Cornell Use Next-Generation Gene Sequencing to Map the Microbiome of New York City Subways
Mar 12, 2018 | Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing
Public health agencies and physicians would gain access to accurate, rapid dip-stick test that could give results similar to a pregnancy test
Tuberculosis is a major killer that ranks alongside HIV/AIDS as a leading cause of death worldwide. This deadly disease takes the lives of more than a million people each year. And, unfortunately, traditional medical laboratory testing using X-rays, blood/skin/sputum specimens, or the new molecular diagnostic systems can be time consuming and expensive.
Now, scientists at George Mason University (GMU) in Virginia have developed a urine test for tuberculosis (TB) that could lead to a dip-stick technology that would accurately and rapidly diagnose the deadly lung disease. Similar to a pregnancy test, if successfully developed for use in clinical settings, the dip-stick could not only enable public health agencies to test for TB more effectively, but also allow primary care physicians and other doctors to easily test their patients for TB at the point of care. However, it also could mean clinical laboratories might find their participation.
Nearly All TB Deaths Occur in Resource Strapped Areas
Such a breakthrough would certainly be a boon to public health and global healthcare, especially in resource strapped areas of the world. According to the World Health Organization (WHO), more than 95% of the 1.7 million TB deaths each year occur in low- and middle-income countries. This is one reason why an inexpensive and easy-to-use detection method for diagnosing the lung disease has long been sought. TB is curable, particularly if diagnosed early.
With that goal in mind, an international team led by Alessandra Luchini, PhD, Associate Professor at GMU, and Lance Liotta, PhD, MD, co-director and co-founder of the GMU Center for Applied Proteomics and Molecular Medicine, developed the potentially revolutionary urine test that uses nanotechnology to measure a sugar molecule in urine that identifies TB with a high degree of accuracy. The scientists published their results in Science Translational Magazine.
George Mason University scientists Alessandra Luchini, PhD (above left), and Lance Liotta, MD, PhD (above right), head an international team that has developed a nanotechnology that may lead to a simple dipstick urine test to detect tuberculosis. Such a test could greatly impact medical laboratories by reducing the need for traditional lab tests. (Photo copyrights: George Mason University.)
While past attempts at developing an accurate urine test for TB failed to reliably detect low concentrations of the sugar entity lipoarabinomannan (LAM) in HIV-negative, TB-infected patients, the GMU team developed a technology capable of doing so.
According to New Scientist, the GMU team’s test “uses tiny molecular cages embedded with a special dye that can catch and trap these sugar molecules. This makes the test capable of detecting the sugar at low concentrations, making the technique as much as 1,000 times more accurate [than] previous methods for detecting TB in urine.”
“We can measure now what could never be measured before,” Liotta noted in a news release.
World Health Organization Recommends Not Using Serodiagnostic Blood Tests
Common methods to detect TB currently include microscopy of sputum samples—a fast and accurate but expensive detection method (that also can diagnosis drug resistant disease)—or a skin test. A third test for TB, an Interferon-Gamma Release Assay, provides results in less than 24 hours but cannot distinguish between active and latent infection. In 2011, the WHO issued a Policy Recommendation urging countries to stop using serodiagnostic blood tests to diagnose TB, calling these tests unreliable and inaccurate. X-rays, meanwhile, detect only advanced lung damage.
In the GMU study, 48 Peruvian patients were chosen, all with active pulmonary TB, none of whom was infected with HIV or previously had received treatment for TB. According to the research, TB infections were detected with greater than 95% sensitivity, with TB-positive, HIV-negative patients having detectably higher concentrations of LAM in their urine compared to the controls. Patients who had more advanced disease also had elevated LAM concentrations. Eight of nine patients who were smear-negative and culture-positive for TB tested positive for urinary LAM.
“The technology can be configured in a variety of formats to detect a panel of previously undetectable very-low-abundance TB urinary analytes … This technology has broad implications for pulmonary TB screening, transmission control, and treatment management for HIV-negative patients,” the study’s authors told Science.
While The Scientist reports the GMU urine test gives results in about 12 hours, Luchini’s goal is for that timeframe to be dramatically shortened as the test is refined.
“We showed that our technology could be used to measure several different kinds of markers for TB in the urine and could be configured as a rapid test similar to a pregnancy test,” Luchini said in a GMU news release.
According to the university, GMU researchers will continue their work in Peru, where students will begin testing hundreds of patients as part of a research study. Grants from the National Institutes of Health and the Bill and Melinda Gates Foundation are funding their work. Luchini told New Scientist her goal is to make their TB urine test easier to use and to test it on thousands more people.
If successful, she predicts the test could be commercially available for physicians and clinical laboratories to use within three years. GMU’s biotechnology partner Ceres Nanosciences will be commercializing the technology, with the aim of making the test available worldwide, the university said in a statement.
—Andrea Downing Peck
Related Information:
TB, or Not TB? At Last, a Urine Test Can Diagnose It Quickly
Urine Lipoarabinomannan Glycan in HIV-Negative Patients with Pulmonary Tuberculosis Correlates with Disease Severity
Mason Scientists Develop Nanotechnology-based Urine Test that Could Lead to Early TB Detection
Urine Test for TB Yields Results in 12 Hours
Tuberculosis Serodiagnostic Tests Policy Statement 2011
Tuberculosis Mortality Nearly Halved Since 1990
Tuberculosis Fact Sheet
Jun 16, 2017 | Digital Pathology, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology
Pathologists and clinical lab managers can help physicians more effectively select appropriate genetic tests and better interpret results to identify the most appropriate therapies for their patients
Clinical laboratories and pathology groups aren’t the only healthcare providers being scrutinized for cost cutting and workflow efficiencies. Physicians ordering genetic tests are now in the spotlight thanks to a study of genetic test misordering by one healthcare institution.
In her award-winning presentation, “Genetic Testing Costs and Compliance with Clinical Best Practices,” given at the 2016 annual clinical and scientific meeting of the American College of Obstetricians and Gynecologists (ACOG), Kathleen Ruzzo, MD, revealed some startling facts to the attendees. Ruzzo is an obstetrics and gynecology (OB-GYN) resident at the Naval Medical Center (NMC) in San Diego. She and a team of NMC researchers had reviewed all genetic tests ordered during a 3-month period. They found that more than one-third of the genetic tests examined were unnecessary and had led to more than $20,000 in additional healthcare expenditures. This got the attention of the ACOG, which awarded her 1st prize.
Critical Importance of Staying Informed on Genetic Tests
The researchers examined 114 charts that contained billing codes for genetic tests. They evaluated the charts for compliance with practice guidelines and completed a cost analysis of the tests. The tests were classified per GeneReviews guidelines and were labeled as:
- Appropriate;
- Misordered/Not Indicated;
- Misordered/False Reassurance; or
- Misordered/Inadequate.
GeneReviews is an online database focusing on information, diagnosis, management, and counseling of single-gene disorders. It is published by the National Center for Biotechnology Information.
The researchers found that:
- 44 of the 114 charts examined (39%) were misordered based on the guidelines;
- 24 of the tests were labeled as misordered/not indicated;
- Eight tests were classified as misordered/false reassurance; and
- 12 tests were determined to be misordered/inadequate.
“We know there is an ever-expanding number of genetic tests available for clinicians to order, and there is more direct marketing to the patient,” stated Ruzzo in an Ob. Gyn. News article. “It can be difficult to stay on top of that as we have so many different clinical responsibilities.”
Kathleen Ruzzo, MD (above right) and Monica Lutgendorf, MD (above left) of the Naval Medical Center in San Diego, reviewed 114 genetic tests ordered during a three-month period. They discovered that 39% of the tests were misordered according to guidelines, costing a total of $75,000. (Photo copyright: Naval Medical Center.)
The actual testing was performed by Laboratory Corporation of America and occurred over a three-month period. The seven common genetic tests that were reviewed were tests for:
The cost analysis of the tests revealed that $20,000 could have been saved by following the GeneReviews guidelines. The total costs affiliated with the 114 tests reached $75,000. Potential savings were thus 26.6% of the total cost of the genetic tests involved in this study. In many clinical settings, if pathologists and medical laboratory managers could help physicians better utilize genetic tests while reducing the cost of such testing by almost 27%, that would be a major contribution. Plus, patients would be getting better care.
Ordering the Right Genetic Test Saves Money and Protects Patients
According to the National Institutes of Health (NIH), costs affiliated with genetic tests can range from less than $100 to more than $2,000 depending on the type and intricacy of the test. The NIH notes that many insurance companies will pay for genetic testing if ordered by a physician.
Ruzzo also shared that many of her cohorts were surprised at the results of the research.
“I think it opened a lot of people’s eyes … to be more meticulous about [genetic] testing and to ask for help when you need help,” she stated in the Ob. Gyn. News article. “Having trained individuals, reviewing genetic tests could save money in the healthcare system more broadly. We could also approve the appropriate testing for the patient.”
Ruzzo did admit there were limitations to the study; the researchers only looked at small amounts of tests for a short period and they did not concentrate on the consequences of the misordering to the patients.
Monica Lutgendorf, MD, Maternal Fetal Medicine Physician at the Naval Medical Center, was one of the coauthors of the paper. In the Ob. Gyn. News article, she described the findings as “a call to action in general for ob-gyns to get additional training and resources to handle the ever-expanding number of [genetic] tests.”
“I don’t think that this is unique to any specific institution. I think this is part of the new environment of practice that we’re in,” Lutgendorf concluded.
Due to the costs of genetic testing and the fact that so many physicians have not been able to keep up with all the latest advances in genetic medicine and testing, misordering will, most likely, continue to be a problem. Nevertheless, pathologists and clinical laboratory managers can serve a crucial role in helping physicians be more effective at selecting the correct genetic tests and assisting them in interpreting results to choose the most appropriate therapies for their patients.
Meanwhile, for those pathologists and medical laboratory professionals interested in developing effective utilization management programs for lab tests, Dark Daily is presenting a special webinar, titled, “Simple, Swift Approaches to Lab Test Utilization Management: Proven Ways for Your Clinical Laboratory to Use Data and Collaborations to Add Value.” It will take place on Thursday, June 29, 2017 at 1PM EDT.
For information about this high-value webinar and to register, use this link (or copy this URL and paste into your browser: https://ddaily.wpengine.com/webinar/simple-swift-approaches-to-lab-test-utilization-management-proven-ways-for-your-clinical-laboratory-to-use-data-and-collaborations-to-add-value.)
—JP Schlingman
Related Information:
More Than One-Third of Genetic Tests Misordered, Study Finds
Genetic Tests Often Overused and Misinterpreted, Sometimes with Tragic Consequences
Webinar: Simple, Swift Approaches to Lab Test Utilization Management: Proven Ways for Your Clinical Laboratory to Use Data and Collaborations to Add Value
Research Awards Announced for ACOG 2017 Annual Meeting
Unnecessary Genetic Tests Wastes $500 Million Annually
Jun 14, 2017 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Operations, Laboratory Pathology, Laboratory Testing, Management & Operations
New discoveries about the genetics of prostate cancer could lead to better tools for diagnosing the disease and selecting effective therapies based on each patient’s specific physiology
In recent decades, the biggest challenge for urologists, and for the pathologists who diagnosed the prostate tissue specimens they referred, has been how to accurately differentiate between non-aggressive prostate cancer, which can exist for decades with no apparent symptoms, and aggressive prostate cancer that kills quickly.
Thus, a research study that has identified unique genetic features within prostate cancer that can help determine if the cancer is aggressive or not, and whether certain drugs may be effective, is good news for men, for urologists, and for the clinical laboratories that will be called upon to perform testing.
These types of breakthroughs bring precision medicine ever closer to having viable tools for effective diagnosis of different types of cancer.
Genetic Fingerprints of Cancer Tumor Types
One such study into the genetic pathways of prostate cancer is bringing precision medicine ever-closer to the anatomic pathology laboratory. Researchers from the Princess Margaret Cancer Centre, which is associated with the University of Toronto Faculty of Medicine, have discovered that some tumors in prostate cancer have a genetic fingerprint that may indicate whether or not the disease will become more aggressive and less responsive to treatment.
Robert Bristow, MD, PhD, and Paul Boutros, PhD, conducted a study of nearly 500 Canadian men who had prostate cancer. Published in the journal Nature, the researchers examined the genetic sequences of those tumors, looking for differences between those that responded to surgery or radiation and those that did not.
In the video above, Dr. Robert Bristow, clinician-scientist at Princess Margaret Cancer Centre, discusses the findings of a key piece in the genetic puzzle that explains why men born with a BRCA2 mutation develop aggressive prostate cancer. (Caption and photo copyright: University Health Network/Princess Margaret Cancer Centre.)
According to a FierceBiotech article, approximately 30% of men who have a type of prostate cancer thought to be curable eventually develop an aggressive metastatic type of the disease. About half of the men who developed a metastatic form of cancer had mutations to three specific genes:
“This information gives us new precision about the treatment response of men with prostate cancer and important clues about how to better treat one set of men versus the other to improve cure rates overall,” stated Bristow in a University Health Network (UHN) press release.
In another study, researchers looked at 15 patients with BRCA2-inheritied prostate cancer and compared the genomic sequences of those tumors to a large group of sequences from tumors in less-aggressive cancer cases. According to a ScienceDaily news release, they found that only 2% of men with prostate cancer have the BRCA2-inherited type.
Knowing what type of cancer a man has could be critically important for clinicians tasked with prescribing the most efficient therapies.
“The pathways that we discovered to be abnormal in the localized BRCA2-associated cancers are usually only found in general population cancers when they become resistant to hormone therapy and spread through the body,” noted Bristow in the ScienceDaily release. If clinicians knew from diagnosis that the cancer is likely to become aggressive, they could choose a more appropriate therapy from the beginning of treatment.
Genetic Mutations Also Could Lead to Breast and Brain Cancer Treatments
BRCA mutations have also been implicated in breast, ovarian, and pancreatic cancers, among some other types. The knowledge that BRCA1 and BRACA2 mutations could indicate a more aggressive cancer is likely to spark investigation into whether poly ADP ribose polymerase (PARP) inhibitors could be used as an effective therapy.
PARP inhibitors are increasingly of interest to scientists. In addition to being used to treat some BRCA1/BRCA2-implicated cancers, two recent studies show that it could be effective in treating brain cancer with low-grade gliomas that involve a mutation to the gene isocitrate dehydrogenase (IDH), according to an article published by the National Cancer Institute and the National Institutes of Health (NIH).
Researchers of the study published in the journal Clinical Cancer Research investigated how PARP inhibitors impact DNA repair in gliomas.
Researchers of the study published in the journal Science Translational Medicine stated that they “demonstrate mutant IDH1-dependent PARP inhibitor sensitivity in a range of clinically relevant models, including primary patient-derived glioma cells in culture and genetically matched tumor xenografts in vivo.”
According to the UHN press release, the next step in using the knowledge that BRCA1 and BRCA2 may indicate a more aggressive prostate cancer is for researchers to create a diagnostic tool that can be used to determine what type of prostate cancer a man has. They expect the process to take several years. “This work really gives us a map to what is going on inside a prostate cancer cell, and will become the scaffold on which precision therapy will be built,” Boutros stated in a Prostate Cancer Canada news release.
Unlocking Knowledge That Leads to Accurate Diagnoses and Treatments
Research that furthers precision medicine and allows clinicians to choose the most appropriate treatment for individuals shows how quickly scientists are applying new discoveries. Every new understanding of metabolic pathways that leads to a new diagnostic tool gives clinicians and the patients they treat more information about the best therapies to select.
For the anatomic pathology profession, this shows how ongoing research into the genetic makeup of prostate cancer is unlocking knowledge about the genetic and metabolic pathways involved in this type of cancer. Not only does this help in diagnosis, but it can guide the selection of appropriate therapies.
On the wider picture, the research at the Princess Margaret Cancer Centre is one more example of how scientists are rapidly applying new knowledge about molecular and genetic processes in the human body to identify new ways to more accurately diagnose disease and select therapies.
—Dava Stewart
Related Information:
Genomic Hallmarks of Localized, Non-Indolent Prostate Cancer
Newly Discovered Genetic Fingerprint for Prostate Cancer Promises to Personalize Treatment
Prostate Cancer Team Cracks Genetic Code to Show Why Inherited Disease Can Turn Lethal
PARP Inhibitors May Be Effective in Brain, Other Caners with IDH Mutations
Chemosensitivity of IDH1-Mutated Gliomas Due to an Impairment in PARP1-Mediated DNA Repair
2-Hydroxyglutarate Produced by Neomorphic IDH Mutations Suppresses Homologous Recombination and Induces PARP Inhibitor Sensitivity
Prostate Cancer Researchers Find Genetic Fingerprint Identifying How, When Disease Spreads
Scientists Identify DNA Signature Linked to Prostate Cancer Severity
May 30, 2017 | Digital Pathology, Instruments & Equipment, Laboratory Instruments & Laboratory Equipment, Laboratory Management and Operations, Laboratory News, Laboratory Pathology, Laboratory Testing
Few anatomical tools hold more potential to revolutionize the science of diagnostics than biomarkers, and pathologists and medical laboratories will be first in line to put these powerful tools to use helping patients with chronic diseases
There’s good news for both anatomic pathology laboratories and medical laboratories worldwide. Large numbers of clinically-useful new biomarkers continue to be validated and are in development for use in diagnostic tests and therapeutic drugs.
Clinical laboratories rely on biomarkers for pathology tests and procedures that track and identify infections and disease during the diagnostic process. Thus, trends that highlight the critical role biomarkers play in medical research are particularly relevant to pathology groups and medical laboratories.
Here’s an overview of critical trends in biomarker research and development that promise to improve diagnosis and treatment of chronic disease.
Emerging Use of Predictive Biomarkers in Precision Medicine
Recent advances in whole genome sequencing are aiding the development of highly accurate diagnostics and treatment plans that involve the development and use of Predictive Biomarkers that improve Precision Medicine (PM).
PM involves an approach to healthcare that is fine-tuned to each patient’s unique condition and physiology. As opposed to the conventional one-size-fits-all approach, which looks at the best options for the average person without examining variations in individual patients.
Predictive biomarkers identify individuals who will most likely respond either favorably or unfavorably to a drug or course of treatment. This improves a patient’s chance to receive benefit or avoid harm and goes to the root of Precision Medicine. (Image copyright: Pennside Partners.)
The National Institutes of Health (NIH) defines PM as “an emerging approach for disease treatment and prevention that considers individual variability in genes, environment, and lifestyle for each person.” It gives physicians and researchers the ability to more accurately forecast which prevention tactics and treatments will be optimal for certain patients.
Combining Drugs for Specific Outcomes
Cancer treatment will be complimented by the utilization of combination drugs that include two or more active pharmaceutical ingredients. Many drug trials are currently being performed to determine which combination of drugs will be the most favorable for specific cancers.
Combination drugs should become crucial in the treatment of different cancers treatments, such as immunotherapy, which involves treating disease by inducing, enhancing, or suppressing an immune response.
Biomarkers associated with certain cancers may enable physicians and researchers to determine which combination drugs will work best for each individual patient.
Developing More Effective Diagnostics
In Vitro diagnostics (IVDs) are poised for massive growth in market share. A report by Allied Market Research, states the worldwide IVD market will reach $81.3 billion by 2022. It noted that IVD techniques in which bodily fluids, such as blood, urine, stool, and sputum are tested to detect disease, conditions, and infections include important technologies such as:
Allied Market Research expects growth of the IVD market to result from these factors:
- Increases in chronic and infectious diseases;
- An aging population;
- Growing knowledge of rare diseases; and
- Increasing use of personalized medicines.
The capability to sequence the human genome is further adding to improvements in diagnostic development. Pharmaceutical companies can generate diagnostic counterparts alongside related drugs.
Biopsies from Fluid Sources
Millions of dollars have been spent on developing liquid biopsies that detect cancer from simple blood draws. The National Cancer Institute Dictionary of Cancer Terms defines a liquid biopsy as “a test done on a sample of blood to look for cancer cells from a tumor that are circulating in the blood or for pieces of DNA from tumor cells that are in the blood.”
At present, liquid biopsies are typically used only in the treatment and monitoring of cancers already diagnosed. Companies such as Grail, a spinoff of Illumina, and Guardant Health are striving to develop ways to make liquid biopsies a crucial part of cancer detection in the early stages, increasing long-term survival rates.
“The holy grail in oncology has been the search for biomarkers that could reliably signal the presence of cancer at an early stage,” said Dr. Richard Klausner, Senior Vice President and Chief Medical Officer at Grail.
Grail hopes to market a pan-cancer screening test that will measure circulating nucleic acids in the blood to detect the presence of cancer in patients who are experiencing no symptoms of the disease.
Clinical Trials and Precision Medicine
The Precision Medicine Initiative (PMI), launched by the federal government in 2015, investigates ways to create tailor-made treatments and prevention strategies for patients based on their distinctive attributes.
Two ongoing studies involved in PMI research are MATCH and TAPUR:
- MATCH (Molecular Analysis for Therapy Choice) is a clinical trial run by The National Cancer Institute. The researchers are studying tumors to learn if they possess gene abnormalities that are treatable by known drugs.
- TAPUR (Targeted Agent and Profiling Utilization Registry), is a non-randomized clinical trial being conducted by the American Society of Clinical Oncology (ASCO). The researchers are chronicling the safety and efficacy of available cancer drugs currently on the market.
New Tools for Pathologists and Clinical Laboratories
The attention and funds given to these types of projects expand the possibilities of being able to develop targeted therapies and treatments for patients. Such technological advancements could someday enable physicians to view and treat cancer as a product of specific gene mutations and not just a disease.
These trends will be crucial and favorable for clinical laboratories in the future. As tests and treatments become unique to individual patients, pathologists and clinical laboratories will be on the frontlines of providing advanced services to healthcare professionals.
—JP Schlingman
Related Information:
5 Trends Being Impacted by Biomarkers
Immuno-Oncology Stories of 2016
Bristol-Myers Leads Immune-Oncology Race but Merck, Astrazeneca and Roche Still Have Contenders
Five Companies to Watch in the Liquid Biopsy Field
Illumina Spinoff GRAIL to Trial Liquid Biopsies for Early Detection of Cancer
Illumina Forms New Company to Enable Early Cancer Detection via Blood-Based Screening
A to Z List of Cancer Drugs
Personalized Medicine and the Role of Predictive vs. Prognostic Markers
Understanding Prognostic versus Predictive Biomarkers
NCI-MATCH Trial (Molecular Analysis for Therapy Choice)
Six Months of Progress on the Precision Medicine Initiative
