Advances in Point of Care Tech Alter the Genetic Testing Landscape

Many of the advances in point-of-care testing (POCT) technologies, originally driven by rapid infectious disease diagnostics, are increasingly finding their way into genetic testing platforms and personalized medicine.¹ 

As further genetic POCT developments improve the speed, sensitivity, user-friendliness, and ultimately the adoption of this testing, clinical lab professionals will likely find that their roles in these testing workflows—like the technologies themselves—evolve. This evolution seems set to not only ensure high quality and accurate genetic POCT, but also extend the reach of pathology and laboratory medicine to all patients, especially toward those that the clinical lab has often struggled to reach.

Getting to the genetic point (of care)

“The area of POCT and genetics is expanding rapidly,” says Gerald J. Kost, professor emeritus and director at the University of California, Davis, Point-of-Care Testing Center for Teaching and Research. Kost has worked in the field for more than 40 years and is credited with coining the term “POCT.”²

In particular, he points to the growing body of literature showcasing clinical applications and developments that aim to bring POCT genetic testing in line with general POCT guidelines, which emphasize rapid results, cost effectiveness, high sensitivity, and ease of use for minimally trained users.³

New sample preparation technologies include commercial sample preparation kits, often employing solid phase extraction methods; microfluidic- and cartridge-based sample preparation platforms, several of which are fully automated; and paper-based sample preparation technology, which offer speed, simplicity, low-cost, and relative independence from external instruments.¹

These developments have condensed the often laborious, time-consuming, and potentially hazardous process of sample extraction and preparation into one that is simple, effective, and suitable for untrained users. Similarly, advances in polymerase chain reaction (PCR) can offer high-speed, low-consumption assays, and developments in isothermal amplification can make testing faster and simpler. Alternatively, some POCT approaches negate the need for DNA purification altogether—for instance, a multi-institutional research team used a combined direct PCR and magnetic lateral flow assay to directly detect the genotype of multiple clinical sample types without purification.⁴

Among the vast array of nucleic acid detection methods, some of the most common and promising approaches include fluorescence, electrochemical, magnetic, paper-based, and CRISPR/Cas-mediated detection, which facilitate real-time and endpoint nucleic acid biosensing of varying complexity.¹ Further enhancing POCT’s promise in the clinic is the connectivity between patients, health experts, medical centers, and clinical labs brought about by the incorporation of Internet of Medical Things-integrated POCT biosensors as part of POCT workflows.

This enables efficient on-site diagnostics and personalized disease management.⁵ Meanwhile, advances in parallel technologies, including big data visualization and analytics, artificial intelligence, and 5G networks, may further the impact of genetic POCT.⁶

Clinical diagnostics within crisis

Genetic POCT has already showcased applications in detecting, among others, various cancers,⁷ alongside POCT molecular testing which has been used to identify diseases such as chlamydia trachomatis⁸ and tuberculosis disease⁹—and studies indicate that offering genetic testing at the point of care may increase uptake of such tests¹⁰ and reduce racial disparities in genetically informed care.¹¹

However, although genetic testing at the point of care will continue to have utility across general clinical practices, Kost believes POCT will make its greatest impact in under-resourced settings. “In limited-resource countries, hospital directors want to address 80 percent of clinical problems at the originating points of care, not in overloaded ERs,” he explains. “POCT is invaluable in achieving this goal.”

In these environments, where the nearest clinical laboratory is often hours away, POCT may be the only viable route for genetic diagnostics,¹² meaning that developing a solid, regional POCT infrastructure is crucial to ensuring that patients are not cut off from care. Kost and his team discovered this themselves in a forthcoming study looking at the outbreak of COVID-19 in Cambodia,¹³ where they found that implementing rural diagnostic ports with 24/7 automated test access and timely diagnosis is key to ensuring patients can manage their health and that of those around them. It is in this vein that inexpensive, ultraportable, and versatile genetic POCT platforms, such as the POCKET (point-of-care kit for the entire test), have been developed.¹⁴

The lessons from Kost’s study may have implications for rural communities in the US, where access to a hospital laboratory can be hindered by distance or shortages in lab staffing.¹⁵

Kost also cautions that increasing numbers of patients may face temporary or permanent resource limitations—for instance, as a result of disasters such as those arising from climate change.¹⁶ “Global warming is a major challenge with which pre-hospital testing and POCT can help,” he explains.

Disaster preparation, including the strategic deployment of POCT, is imperative to ensure continuation of care. “Get ready for disasters, whether man-made or not,” he warns. “In the worst cases, such as the war in Gaza, POCT is an absolute necessity because numerous hospitals have been destroyed.”

An evolving role for clinical labs

So, what does the increasing uptake of genetic POCT mean for laboratories’ role in genetic testing? Although the testing itself may not occur within the physical space of the clinical laboratory, lab professionals will be key in managing it to evaluate effectiveness and maintain high quality standards.

“Lab professionals need to be involved in analytical and clinical validation and interpretation of results of these POCTs,” says Sridevi Devaraj, medical director of clinical chemistry and point of care at Texas Children’s Hospital, director of labs at the Center for Children and Women, and professor of pathology and immunology at Baylor College of Medicine.

“As point-of-care genetic testing is more widely adopted, having lab professionals who play a critical part in maintaining the quality and accuracy of these tests will translate to patient safety and improved outcomes—and will allow us to reach many underserved populations,” Devaraj adds. “There needs to be a seamless concordance between the clinical lab and POCT.”

Kost agrees: “The key future innovations in POCT and genetics are the development of suitable point-of-care technologies for testing in the community—so that family and personal genetics can be addressed at points of need—and the mobilization of those strategies so that they are more accessible.”

“The challenge for the clinical lab then becomes supporting the technology, quality control, proficiency testing, and training of the community personnel who perform the testing, as well as laypersons in their homes where ultimately genetic testing will become available,” he concludes.

References:

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