Molecular laboratories: the laboratory trend revolutionizing healthcare delivery

Molecular diagnostics is a rapidly developing area of laboratory medicine that investigates human, viral, and microbial genomes and the products they encode. The molecular laboratory performs molecular diagnostic testing for nucleic acid targets in patient samples. Due to the incredible sensitivity and specificity associated with the use of molecular assays, molecular laboratories have the capability to more rapidly and accurately identify pathogens than laboratories that use more conventional methods.¹

Molecular testing has, in the past, been seen as a more specialized area of diagnostic testing, but the shift towards personalized healthcare and a need to balance tight resources with increasing demand for healthcare services mean that these tests are set to play an increasingly important role in healthcare systems, across a number of different types of disease. Embracing laboratory trends like molecular diagnostics will ensure laboratories remain competitive.²

Since it was first introduced in the 1980s, molecular testing has established itself as an essential tool in diagnostics, especially when it comes to disease control; infectious diseases account for approximately 70% of the molecular testing market worldwide.¹

It played a crucial role during the COVID-19 pandemic as reverse transcriptase-polymerase chain reaction (RT-PCR) testing was used by healthcare systems around the world to detect and help to predict the spread of the virus, and it has been used for decades to monitor the viral load of HIV.^3,4

Building on the success of PCR technology, researchers are now developing the next generation of rapid, accurate, and inexpensive molecular assays using CRISPR technology.⁵ Next-generation sequencing is allowing researchers in molecular laboratories to analyze entire genomes at an unprecedented scale:⁶ Shotgun metagenomics, a technology based on high-throughput sequencing, allows all the microorganisms within a single sample to be identified.⁷ The use of automation and high-throughput screening in molecular laboratories also means that these labs can process large volumes of samples rapidly and efficiently, increasing productivity and minimizing human error.⁸

Molecular laboratories will be key partners in facilitating the detection of future outbreaks of infectious diseases. Molecular assays that determine sequence or genotype will allow emerging strains to be detected and characterized, providing data on resistance and treatment prognosis. In this way, disease outbreaks can be tracked, their sources can be identified, and transmission methods can be defined. Thus, the rapid processing provided by molecular testing will support timely clinical decision-making and the implementation of measures that will contain outbreaks and protect public health.¹

Molecular laboratories will support healthcare systems to transition from reactive to preventative medicine approaches. Through genetic testing and analysis, molecular laboratories support early and accurate screening for disease, in addition to prediction of disease likelihood and severity and prognosis before symptoms appear. This will allow early-stage interventions such as lifestyle modifications or pharmacological interventions to be implemented, which may better ameliorate the disease course or prevent it entirely.² Such a shift will benefit patients, and will also result in financial benefits for healthcare systems.²

Currently, patients receive therapies dosed according to demographic features identified in clinical studies.⁹ However, in the future, molecular diagnostic laboratories will play a role in determining individual responses to therapies through pharmacogenetics. By analyzing an individual's unique genetic profile, these labs can identify specific genetic variations that influence drug metabolism and treatment response.⁹ This information will allow physicians to tailor the therapeutic approach for each patient and choose the most efficacious drug with the fewest safety impacts. This ensures that patients receive optimal care and maximizes the chances of successful outcomes.

On a wider scale, the genetic data collected by molecular laboratories will contribute towards data integration, allowing for the development of large, diverse data sets that can be used for the analysis of genomic data and the conduct of population health studies. In doing this, researchers and public health agencies will gain insights into disease prevalence, risk factors, and potential interventions.¹⁰

Annually, an estimated 1.27 million deaths are attributed to bacterial antimicrobial resistance (AMR). Without further intervention, AMR could be responsible for an estimated 10 million deaths per year by 2050.¹¹ A major driver of AMR is the empirical use of antibiotic therapies.¹¹ Clinicians rely heavily on antibiotic susceptibility assessment in order to make antibiotic treatment decisions. Conventional laboratory methods can take days or even weeks to identify AMR meaning clinicians have to prescribe suboptimal antibiotic therapy in the interim.¹¹

Molecular testing allows the nature of an infection and its resistance profile to be determined within a few hours or even minutes.¹¹ Molecular testing also offers the ability to identify organisms that are usually challenging to isolate or that have not been cultured using traditional methods.^1,12 As a result, the molecular laboratory will support more judicious use of antibiotics. Ultimately, this will optimize treatment and patient outcomes, and further reduce the emergence and spread of AMR.

Molecular laboratories offer a range of important services underpinned by cutting-edge molecular technologies. The services offered are empowering healthcare professionals to offer faster, more accurate diagnoses, leading to more timely interventions and improved patient outcomes. Molecular laboratories also represent a key factor in the move towards a new era of personalized medicine, in which patients receive the most effective and targeted therapies. In years to come, the role of the molecular laboratory will continue to grow into critical new areas, such as antimicrobial resistance, sharply increasing the value that these laboratories can bring to the healthcare system.