Researchers are finding multiple approaches to metabolomic research and development involving disparate technology platforms and instrumentation
Human metabolome has been discovered to be a wealth of medical laboratory biomarkers for diagnosis, therapy, and patient monitoring. Because it can provide a dynamic phenotype of the human body, there are many potential clinical laboratory applications that could arise from metabolomics, the study of metabolites.
Researchers are discovering numerous ways the expanding field of metabolomics could transform the future of healthcare. However, to fully exploit the potential of human metabolome, developers must choose from various approaches to research.
“The metabolites we’re dealing with have vast differences in chemical properties, which means you need multi-platform approaches and various types of instrumentation,” James MacRae, PhD, Head of Metabolomics at the Francis Crick Institute in London, told Technology Networks. “We can either use an untargeted approach—trying to measure as much as possible, generating a metabolic profile—or else a more targeted approach where we are focusing on specific metabolites or pathways,” he added.
A multi-platform approach means different diagnostic technologies required to assess an individual’s various metabolomes, which, potentially, could result in multi-biomarker assays for medical laboratories.
Measuring All Metabolites in a Cell or Bio System
Metabolomics is the study of small molecules located within cells, biofluids, tissues, and organisms. These molecules are known as metabolites, and their functions within a biological system are cumulatively known as the metabolome.
Metabolomics, the study of metabolome, can render a real-time representation of the complete physiology of an organism by examining differences between biological samples based on their metabolite characteristics.
“Metabolomics is the attempt to measure all of the metabolites in a cell or bio system,” explained MacRae in the Technology Networks article. “You have tens of thousands of genes, of which tens of thousands will be expressed—and you also have the proteins expressed from them, which will then also be modified in different ways. And all of these things impact on a relatively small number of metabolites—in the thousands rather than the tens of thousands. Because of that, it’s a very sensitive output for the health or physiology of your sample.
“With that in mind, metabolomics has great potential for application in most, if not all, diseases—from diabetes, heart disease, cancer, HIV, autoimmune disease, parasitology, and host-pathogen interactions,” he added.
There are four major fields of study that are collectively referred to as the “omics.” In addition to metabolomics, the remaining three are:
The graphic above is taken from a study published in the Journal of the American College of Cardiology (JACC). It notes, “State-of-the-art metabolomic technologies give us the ability to measure thousands of metabolites in biological fluids or biopsies, providing us with a metabolic fingerprint of individual patients. These metabolic profiles may serve as diagnostic and/or prognostic tools that have the potential to significantly alter the management of [chronic disease].” (Image and caption copyright:Journal of the American College of Cardiology.)
• Genomics: the study of DNA and genetic information within a cell;
• Proteomics: the large-scale study of proteins; and,
• Transcriptomics: the study of RNA and differences in mRNA expressions.
Researchers caution that metabolomics should be used in conjunction with other methods to analyze data for the most accurate results.
“Taking everything together—metabolic profiling, targeted assays, label incorporation and computational models, and also trying to associate all of this with proteomics and
genomics and transcriptomic data—that’s really what encapsulates both the power and also the challenges of metabolomics,” MacRae explained.
Metabolome in Precision Medicine
Metabolomics may also have the ability to help researchers and physicians fine-tune therapies to meet the specific needs of individual patients.
“We know we’re all very different and we don’t respond to drugs in the same way, so we could potentially use metabolomics to help select the best treatment for each individual,” Warwick Dunn, PhD, Senior Lecturer in Metabolomics at the University of Birmingham, Director of Mass Spectrometry, Phenome Center Birmingham, and, Co-Director, Birmingham Metabolomics Training Center, UK, told Technology Networks.
“Our genome is generally static and says what might happen in the future. And the metabolome at the other end is the opposite—very dynamic, saying what just happened or could be about the happen,” Dunn explained. “So, we could apply it to identify prognostic biomarkers, for example, to predict if someone is at greater risk of developing diabetes five to ten years from now. And if you know that, you can change their lifestyle or environment to try and prevent it.”
Metabolomics continues to tap the many diagnostic possibilities posed by the human metabolome. And, the resulting human biomarkers derived from the research could result in a rich new vein of medical laboratory assays.
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Every medical laboratory ready to begin the move away from fee-for-service payment and towards value-based reimbursement needs to start offering lab tests that support the practice of precision medicine
Nearly every clinical laboratory and pathology group in America today is aware of the opportunity to provide medical laboratory tests that enable physicians to successfully practice precision medicine. The goal of precision medicine is to enable a patient to get a more accurate diagnosis, receive the most appropriate therapy, and have his/her condition monitored with unprecedented insight during the course of treatment.
The good news for the clinical laboratory industry concerning precision medicine is that it is the fastest-growing sector of lab testing and these are the tests that contribute the greatest value in patient care. For example, molecular and genetic tests are revolutionizing the diagnosis and treatment of infectious disease. These are the clinical lab tests that enable a physician to identify the specific subtype of the bacteria or virus, then help him or her select the therapeutic drug that will have maximum benefit for the patient.
Clinical Laboratories Support Cancer Diagnosis with Companion Diagnostic Tests
It is equally true that the diagnosis and treatment of cancer is undergoing a major transformation. Genetic knowledge is being used to develop both diagnostic tests and new therapies that enable physicians to better diagnose cancer, and then treat it with the drugs identified by a companion diagnostic test as having the best potential to cure the patient or slow the progression of the disease.
But if there is an area of precision medicine with immense potential, it is pharmacogenomics and its associated testing.
In 2015, the Kaiser Family Foundation reported that more than four billion prescriptions were filled in the United States. As science understands more about the human genome, proteome, metabolome, and microbiome (to name just a few of the “omes”), it becomes possible to design clinical laboratory tests that:
1. Contribute to a more accurate diagnosis;
2. Identify which prescription drugs will be of the greatest benefit; and
3. Inform the physician as to which drugs will not be effective and may even be harmful to the patient.
More Good News for Medical Laboratories
There is even more good news. Many clinical laboratories, hospital labs, and pathology groups already have lab instruments capable of performing the tests used in precision medicine. For these labs, no major up-front investment is needed to begin offering tests that allow physicians to practice precision medicine.
“Many of our lab clients got started in this way,” stated Don Rule, MBA, Founder and Chief Executive Officer of Translational Software in Bellevue, Wash. “They realized that their existing lab instruments could run some of the lab tests physicians use when practicing precision medicine. This would be a low-cost way to enter the precision medicine field and they could, on a small scale with minimal risk, begin offering these tests to gain experience, learn more about the market, and identify which such tests would have highest value to the physicians in the communities they serve.”
Is Your Pathology Group Interested in Supporting Precision Medicine?
“For a lab that is serious about understanding the current and future clinical demand for precision medicine tests, several careful steps are recommended,” he continued. “One step is to build demand by educating clinicians and their staffs about the best ways to use these tests to improve patient care. Keep in mind that more of a physician’s reimbursement is now keyed to the patient outcomes they deliver. These doctors recognize that labs helping them do a better job with precision medicine are also helping them demonstrate greater value in the patient care they provide.
“There are other steps required to launch an effective, clinically successful precision medicine testing program,” Rule noted. “For example, labs need to understand how to be paid by the health insurers in their region. That includes getting in-network and teaching physicians and lab staff how to follow each payer’s clinical and coding criteria so that clean claims will be paid in a timely manner.
“Another step is to build the market in a careful fashion,” he emphasized. “For example, labs should identify the thought leaders among their clients and work with them to demonstrate the clinical utility of tests performed in support of precision medicine. And above all, it’s important to focus on patients that are most likely to get some insight from testing. When your lab starts with the right population, it’s remarkable how often you will uncover actionable issues.”
Clinical Labs Can Enter Precision Medicine by Initially Referring Tests
“It’s also feasible for a lab to start its precision medicine strategy by referring out testing in the early stages and using third-party experts to do the interpretations,” Rule advised. “Then, as specimen volume increases, and the lab’s clinical team gains more experience with these molecular and genetic tests, it becomes easy to bring that testing in-house to develop the market further with faster turnaround times and in-house expertise that local physicians appreciate.”
Every clinical lab, hospital lab, and pathology group that is considering how to support precision medicine will want to participate in a special webinar, titled, “What Molecular and Genetic Testing Labs Need to Know to Succeed with Commercialization of Their Precision Medicine Products.” It will take place on Wednesday, March 22, 2017 at 1 PM EDT.
Two expert speakers will cover the essentials that all labs should know about building a market presence in precision medicine. First to present is Don Rule of Translational Software. Rule currently provides a variety of services to more than 80 lab clients, which includes the annotation and interpretation of gene sequences. In addition, Rule and his team provide consulting expertise to help labs develop their strategies for precision medicine, identify the best tests to offer physicians, and develop the steps needed to obtain network status with payers.
Webinar Will Present the Best Successes of Molecular, Genetic Testing Labs
Rule will share the experiences and best successes of the molecular and genetic testing labs he has worked with since 2009. He will discuss the types of lab tests used in precision medicine in different specialties, identify the fastest-growing sectors, and note which instruments already found in most clinical laboratories can be used to provide lab tests used for precision medicine.
Don Rule (above left), Founder and CEO of Translational Software, and Kyle Fetter (above right), Vice President of Advanced Diagnostics at XIFIN, will share their unique insights, knowledge, and experience at developing a precision medicine lab testing program for clinical laboratories that want to build more market share, make the billing/collections team more effective, and increase revenue. (Photo copyright: Dark Daily.)
As one example, a growing number of long-term care facilities are using tests to practice precision medicine—and paying for these tests under value-based arrangements—because so many of their patients are taking from 10 to 15 prescriptions each day. If a lab test indicates that the patient may not be getting therapeutic benefit from a specific drug (or that there are negative side effects from the polypharmacy), then the long-term care facility is money ahead because of less spending on drugs and the decreased care costs from patients who remain healthier. In the extreme case, the care facility might lose a patient to a skilled nursing facility due to mental fog or a fall that is precipitated by adverse drug effects.
Making the Case for a Precision Medicine Lab Testing Program
Additional topics to be discussed are:
• How to make the case to administration and the clinicians;
• How to build demand; and
• How to identify thought leaders and work with them to educate the physicians in the lab’s service region.
The second speaker will address the important topic of how to get paid. Kyle Fetter, MBA, is Vice President of Advanced Diagnostics at XIFIN, Inc., based in San Diego. XIFIN provides revenue cycle management (RCM) services to more than 200 labs and handles as many as 300 million lab test claims annually. What this means is that Fetter sees which labs are most successful with their coding, billing, and collections for molecular and genetic tests. He also sees how different payers are handling these claims.
During his presentation, Fetter will provide you and your lab team with valuable knowledge about the best ways to collect the information needed to submit clean claims and be paid promptly. He will illustrate ways to optimize the process of gathering this data and the different software tools that not only make the job easier, but help ensure that a higher proportion of claims are clean and paid at first submission.
Secrets of Preparing for Payer Challenges, Denials, and Audits
But the single best element of Fetter’s presentation will be how labs performing molecular and genetic testing should prepare, as part of the normal course of business, for the inevitable challenges, denials, and audits. He will describe the elements of a system that helps labs be ready to make the case that claims are properly documented, and that they represent appropriate and necessary tests for the patient.
You can find details for this important webinar at this link. (Or copy this URL and paste it into your browser: https://www.darkdaily.com/webinar/what-molecular-and-genetic-testing-labs-need-to-know-to-succeed-with-commercialization-of-their-precision-medicine-products.)
This webinar is perfect for any lab that is already performing molecular and genetic tests, and which is interested in building more market share, making the billing/collections team more effective, and increasing revenue.
For every lab watching the precision medicine space, this webinar is a “must attend” because it delivers to you and your lab team the collective knowledge and insights from two experts who are working with hundreds of the nation’s most successful labs. It is your guaranteed way to get the accurate, relevant information you need to craft your own lab’s strategy for expanding its molecular and genetic testing opportunities.
Genetic Tests and Precision Medicine Start to Win Acceptance by Some Payers; Pathologists and Clinical Laboratories Have Opportunity as Advisors