What is molecular testing?
Molecular diagnostics is a technique used to analyze biological markers in the genome and proteome – the individual’s genetic code and how their cells express their genes as proteins – by applying molecular biology to medical testing. The technique is used to diagnose and monitor disease, detect risk, and decide which therapies will work best for individual patients.
From a practical viewpoint, the relevance of molecular testing is nothing short of a revolution in providing lab diagnostic information for certain disease states, including infectious diseases. Speed of results (tests that once took days can now be completed in hours or less) and accuracy (how sensitive and specific test results can be) offer benefits including antibiotic stewardship and reduction of empirical antibiotic prescription. Some molecular tests can offer sensitivities that are 10 times greater1 than legacy methods or more, and are also specific for the substance being tested.
Acquisition of a good throat, wound or nasopharyngeal swab has been a concern for microbiology testing, particularly for rapid lateral flow antigen detection methods. A significant advantage of molecular testing for infectious agents is the amplification of the substance being tested for, which is inherent in molecular tests. This reduces the concerns about swab sample collection techniques and reduces the number of false negatives inherent in rapid diagnostic methods needing enough specimen to react with the antibody and generate a result.
Molecular testing is a growing market
Molecular testing offers significant advantages in laboratory testing by improving prospects for accurate, timely diagnosis of diseases, which has become a major reason for their adoption in infectious disease testing. Infectious disease tests, including molecular assays for respiratory diseases and enteric pathogens, are growing rapidly and represent about a $3 billion market2 in the US today. Key market entrants include Quidel, Alere, Roche, Cepheid, Meridian and BioFire among others.
Molecular tests for cancer diagnosis and treatment monitoring are the next fastest growing test segment and include new tests to guide immunotherapy decisions.2 Molecular testing use in understanding personal genome mutations that lead to a pre-disposition for certain diseases (Factor V Leiden, colorectal cancer and others) or that point to the most effective cancer treatments is also driving adoption of current molecular tests, as well as research and development directed at pushing back the frontiers of personalized medicine further and further. Today the market for molecular tests exceeds $6.5 billion and is growing at a predicted rate of 9.1% worldwide.2 The US market for infectious disease alone is greater than $3 billion.
The future of molecular testing: New tests, new entrants
All signs point to increasing adoption of molecular tests for detection of known disease markers, including influenza and enteric pathogen detection. Biofire’s FilmArray technology has introduced a very wide range of tests for common respiratory and enteric pathogens that deliver fast, accurate results to enable proper antibiotic prescription as necessary. Cepheid has a range of methods including tests that can determine whether the patient’s bacteria are resistant to typical antibiotics and that help target the most appropriate antibiotic therapy.
Even more importantly, molecular assays are creating a frontier of new tests for tumor markers and disease pre-disposition (BRCA1 and BRCA2, for example) that promise earlier, more accurate diagnosis, especially for cancer and inherited diseases. Some of these same tests also hold promise to guide more effective treatment of disease, based on an understanding of the underlying relationship between the patient’s metabolism and the disease state itself; that is, they can help guide decisions regarding the use of specific chemotherapeutic agents or immunotherapy. Emerging companies like Epigenomics are exploring new markers for colorectal, lung and other cancers.
From the perspective of ease-of-use and market adoption, molecular tests are becoming easier to use, with friendly test formats and sophisticated software and hardware that brings this sophisticated technology into more and more laboratory sites. Some test methods are even CLIA-waived, including Alere I and Roche LIAT respiratory tests. Many other tests are CLIA moderate. Suppliers are competing for increased ease-of-use, more available tests and faster turn around times, all factors that show promise for wider adoption of these tests and the opportunity for better patient care.
PAMA, MACRA & the adoption of molecular testing
New laboratory reimbursement rates under the Protecting Access to Medicare Act (PAMA) establish a market-based pricing system for lab tests in which Medicare payment for a test is based on the weighted median average of private payors rates. Underpinning this legislation is the need to reduce the cost of health care, improve patient outcomes and improve patient satisfaction. The advantages of molecular testing, coupled with higher reimbursement than conventional methods, makes its adoption even more likely since it “checks the boxes” in each of these critical areas. There can be no doubt that increased adoption of current molecular tests and the development of exciting new tests is creating a true revolution in laboratory testing and, more importantly, in patient care. Molecular testing is driving much of the future of lab testing in key disease state detection and management.
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