The field of molecular diagnostics, which uses biological analysis to detect specific sequences in DNA or RNA that might be associated with disease, is growing rapidly. A 2015 report from Mordor Intelligence estimated the value of the global market for molecular diagnostics at $6 billion; by 2020, it’s expected to grow to nearly $10 billion.
The rapid improvement in workflow and turnaround time for most molecular testing methods has provided promising results. These tools now have the potential to replace many conventional microbiology laboratory assays. Developments in technology have also resulted in more user-friendly testing platforms that are automated, have lower risks for contamination and have the ability to deliver faster results. But fast-moving technology also presents challenges and can increase supply chain costs, at least initially.
“Molecular diagnostics is a rapidly evolving area that is revolutionizing the way healthcare is delivered and, as a result, has become an essential and growing component of laboratory supply chain management programs,” says Federico Monzon, M.D., president-elect of the Association of Molecular Pathology (AMP) and the chief medical officer at Castle Biosciences.
As suppliers are continually developing their technology, increasing numbers of molecular diagnostic tools will be available over the next few years. “These newly developed assays will be more accurate than conventional testing methodologies; therefore, clinicians will demand access to the newer technologies, which will result in increased testing costs,” says Belinda Vanatta, director of Laboratory Services at HealthTrust.
As healthcare becomes more dependent on molecular diagnostic testing, suppliers are continually developing new molecular methods. These include improvements in PCR (polymerase chain reaction), as well as newer methodologies such as TMA (transcription-mediated amplification), NASBA (nucleic acid sequence-based amplification), SDA (strand displacement amplification), branched DNA, hybrid capture, LAMP (loop-mediated Isothermal amplification), NEAR (nicking enzyme amplification reaction) and HDA (helicase-dependent amplification.
“Each supplier has a different philosophy on menu development,” Vanatta says. “There are as many different ways to address molecular testing as there are suppliers in the marketplace.”
For instance, some suppliers start with pathogens (such as flu and strep) for which they have a history of marketing success and research and development expertise. Other companies are starting from scratch by focusing on disease states that can be the most devastating to a patient or costly to treat, such as sepsis. Some take a specific path, looking for one or only a few causative agents, while others test the patient for many agents at once based on symptoms.
While molecular diagnostic tests have the potential to revolutionize patient care, they have limitations. For instance, the MALDI-TOF method is currently unable to determine antibiotic susceptibility with the technology. “So, even though the laboratory can deliver an identification result, it can still be up to 24 hours—or longer for slow-growing organisms—before we know exactly what drug the organism is sensitive to,” Vanatta explains.
To make quicker treatment decisions, practitioners can also consider historical geographic experience and certain molecular assays, Vanatta says.
“The main advantage of MALDI-TOF over other microbiological identification methods is its ability to reliably identify, at low cost and rapidly, a wide variety of microorganisms directly from the selective medium used to isolate them,” she says. “The absence of the need to purify the suspect colony allows for much faster turnaround times. Thus, MALDI-TOF may well become the standard method for species identification in medical microbiological laboratories over the next few years.”
Supply Chain Impacts
As molecular testing plays a bigger role in diagnosing disease, supply chain professionals “need to understand that it is expensive, no matter how you do it,” Vanatta says. “Molecular testing can consume your entire clinical laboratory budget if you let it.”
However, costs for molecular assays and MALDI-TOF will continue to decrease—and already have decreased with some suppliers, Vanatta says. As suppliers continue to expand their menus of tests, customers continue to adopt the products, and more consolidation occurs in the marketplace, suppliers will be able to spread development costs over a larger number of assays and pass the savings on to customers.
While prices are expected to fall, testing will remain a significant budget item. New technologies are only successful when they are applied judiciously to patient care, and cost-effective test use and pathogen- or disease-targeted algorithms will be necessary to realize the true value of these technologies. For that reason, healthcare teams must work together to quantify the actual cost-versus-benefit ratio and compute the correct algorithms and patient populations to make best use of the technologies.
“If we test everyone who comes into the hospital, we wouldn’t have the money to do anything else,” Vanatta says. “Coming up with a workable plan for molecular testing must be a hospital-wide effort, not just a laboratory initiative. It’s incumbent on physicians, pharmacists and other providers to collaborately decide when to use these tests and how all the technologies can work together to best serve patient populations.”
Outside resources, such as a recent cost and value analysis by AMP that studied specific genomic sequencing procedures (GSPs) newly coded by the American Medical Association Current Procedural Terminology Editorial Panel, can help clinicians in making those decisions.
The AMP analysis resulted in cost-impact models for three clinical scenarios: use of a targeted gene panel in optimizing care for patients with advanced non-small-cell lung cancer; use of a targeted gene panel in the diagnosis and management of patients with sensorineural hearing loss; and exome sequencing in the diagnosis and management of children with neurodevelopmental disorders of unknown genetic cause. Each model demonstrated value by either reducing healthcare costs or identifying appropriate care pathways, according to AMP. And the templates generated can aid laboratories in assessing their individual costs, considering the value structure in their own patient populations and contributing their data to the ongoing dialogue regarding the impact of GSPs on improving patient care.
“The increasing use of advanced nucleic acid sequencing technologies for clinical diagnostics and therapeutics has made it vital to understand the costs of performing these procedures as well as the value to patients, providers and payers,” AMP’s Monzon says.
Find more AMP resources here.