A pathogen in front of a dark blue background

Molecular diagnostics have been used for many years in laboratories worldwide for the detection of clinically important nucleic acids and proteins, including infectious agents. Although Severe Acute Respiratory Syndrome (SARS) was first described in 2003, an outbreak in China in 2019 grew rapidly into a global pandemic of SARS-CoV-2, causing over 350,000 deaths in the first five months. Culture-based methods for diagnosing COVID-19 were insufficient due to long processing times. The sensitivity and specificity of molecular techniques created an immense opportunity for new product development and deployment to serve an urgent and evolving need for testing at large scale.

Molecular diagnostics used to assess viral nucleic acids served as a basis for a succession of assays designed to detect the virus in clinical samples. Prior to this pandemic, the types of molecular diagnostic assays available to clinicians focused primarily on infectious disease, cancer, and inherited diseases. The emphasis was on accuracy, not necessarily turnaround time. However, with the emergence of the COVID-19 pandemic, these new molecular technologies were utilized to improve both speed of testing as well as accuracy.

Learning from COVID-19 Molecular Diagnostics

Molecular diagnostic technologies expanded from the initial test developed and provided by the CDC. Although a number of diagnostic approaches were developed, real-time reverse transcriptase polymerase chain reaction (RT-PCR)-based assays became the primary method for the diagnosis of SARS-CoV-2 infection. Manufacturers raced to create reagents and kits which met FDA EUA requirements. Assays were also developed in-house at large reference laboratories, academic medical centers, hospital labs and many smaller opportunistic “pop-up” labs.

For the detection of viral RNA, most labs relied on RT-PCR, which requires the creation of cDNA. However, some innovative laboratories and IVD / reagent manufacturers expanded beyond RT-PCR to employ multiple technologies to identify and quantify COVID RNA sequences, including the identification of new variants. These techniques included digital droplet PCR, CRISPR, LAMP, and NGS. Assay turnaround time was decreased by innovative extraction-free amplification, process automation, and multiplexing several probes in the same assay.

Moreover, laboratory relationships with their clients fundamentally changed. The laboratory client base evolved from educated healthcare providers and knowledgeable clinics to corporations, educational institutions, municipalities, and even individual travelers who had to follow regulatory dictates and manage their institutions along with protecting their own employees and clients. Control of collection, faster turnaround time and clear explanation of results became major responsibilities for COVID-19 testing laboratories. We had to learn what tests were required, how to scale testing and also produce test reports to meet expectations. Rather than a clinical market, the testing had to serve a relatively unsophisticated customer with expectations of rapid turnaround times and accurate results.

Opportunities for the Clinical Lab

In response to the COVID-19 pandemic and the tremendous demand for equipment, reagents, staffing, and collection materials to perform testing, manufacturers and laboratories worldwide expanded their capabilities to meet the needs of their clients. With the reduction in testing volumes, the demand has waned. The COVID-19 scale-up, however, provides the experience needed to renew increased capacities quickly, and it also provides resources that can be repurposed for other types of testing.

Clinical laboratories have a unique opportunity to leverage this increased testing capacity, personnel, and diversified platforms while maintaining bandwidth and competency in case of another COVID-19 surge. According to the COVID Weekly Newsletter published by Health Catalysts Group, PCR lab capacity in the United States was as high as 170 million monthly tests from April through June 2021. In June 2022, capacity dedicated to COVID-19 testing shrunk to 66 million monthly tests. Although COVID-19 is likely not fading away any time soon, in a world where COVID-19 numbers are reduced, some platforms can be used for other assays, as discussed below. Packaging COVID-19 in a respiratory panel with influenza A, B, and RSV, for example, could identify seasonal infections as well as SARS-CoV-2.

Clinical laboratories also added significant numbers of personnel to meet testing needs. Many of these personnel are well-trained laboratorians who can leverage their knowledge for the laboratory’s benefit in other areas. These individuals could rotate within the lab to fill empty roles, perhaps created as a part of the “Great Resignation.”

Expanding Test Menus to Evolve Laboratory Capabilities

With these testing resources, clinical laboratories have an opportunity to expand their molecular diagnostics menu, and thereby maintaining testing capabilities and potentially improving patient outcomes. For example, those additional under-used / unused platforms previously added to address COVID-19 surges could be repurposed for additional infectious disease testing that is faster and more accurate than conventional culture methodologies.

The repurposing of molecular capability should also be used to internalize testing sent to outside laboratories during the pandemic. For example, to focus resources on high-volume COVID-19 testing, other molecular infectious disease tests were often sent out to other testing labs. Now, labs can bring in additional revenue by retaining those specimens and performing those assays in-house with faster turnaround times.

Microbial testing on these molecular platforms can be combined with additional functionalities. For example, there is a growing national drive toward antibiotic/antimicrobial stewardship. The multiplexing capabilities of many molecular platforms will not only allow the identification of a potential pathogen but allow the laboratory to report antibiotic-resistance information to clinicians and patients simultaneously.

Looking back at the COVID-19 pandemic and the scale-up responses of manufacturers and clinical laboratories to meet demands for increased SARS-CoV-2 testing, many of these solutions can be redirected for both clinical and financial gain. As the pandemic evolves from its significant morbidity and mortality rates in 2020-2021, some large clinical laboratories have an opportunity to add to their bandwidth through acquisitions of small laboratories. As the pandemic wanes and government-funded testing dollars dry up, some of these purpose-driven companies may wish to sell their operations leading to an opportunity for quick expansion by strategically focused organizations.

Changes in Consumer Expectations

It became apparent during the COVID-19 pandemic that today’s consumers want access to convenient healthcare. Collecting of samples at home, the local pharmacy, a clinic, or a laboratory patient service center are now all avenues for today’s healthcare consumer to manage their own health, order their own tests, study their test results, and monitor their own health with digital devices. Consumers want to discuss their health with a healthcare provider and are more amenable to telehealth virtual visits. Most of all, they want to have their diagnostic information at their fingertips: clinical, prognostic, and at a reasonable cost.

Over-the-counter self-testing became more popular because there is no appointment and waiting time for results. From the legacy at-home pregnancy tests, we have grown into COVID-19 tests, blood sugar tests, cardiac response to exercise, and other devices to monitor one’s own health.

This diagnostic consumerism also has the potential to aid in reducing some of the noted equity issues in access to molecular diagnostics. As discussed above, molecular diagnostics were traditionally available only to patients who had access to healthcare providers. By making molecular diagnostics more available through a variety of outlets greater access to care is more readily available to all.