Advances in Point of Care Tech Alter the Genetic Testing Landscape
How are advances in point-of-care testing altering the genetic testing landscape, and what does this mean for the clinical lab?
![Illustration of tablet with DNA strands surrounded by three sample tubes, a syringe, human figure, another DNA strand, and a magnifying glance, representing the concept of portable genetic testing.](https://www.g2intelligence.com/wp-content/uploads/2024/08/Sept24.CDI_.POCT-GeneticTesting.OB-iStock-2153965068-1100x800-1.jpg)
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:
- de Olazarra AS, Wang SX. Advances in point-of-care genetic testing for personalized medicine applications. Biomicrofluidics. 2023;17(3):031501. doi:10.1063/5.0143311.
- Liu X et al. The creation of point-of-careology. Point Care. 2019;18(3):77–84. doi:10.1097/POC.0000000000000191.
- Larkins MC, Thombare A. Point-of-Care Testing. May 29, 2023: https://www.ncbi.nlm.nih.gov/books/NBK592387/
- Zhang C et al. Genotyping of multiple clinical samples with a combined direct PCR and magnetic lateral flow assay. iScience. 2018;7(1):170–179. doi:10.1016/j.isci.2018.09.005.
- Jain S et al. Internet of medical things (IoMT)-integrated biosensors for point-of-care testing of infectious diseases. Biosens Bioelectron. 2021;179(1):113074. doi:10.1016/j.bios.2021.113074.
- Mathkor DM et al. Multirole of the internet of medical things (IoMT) in biomedical systems for managing smart healthcare systems: an overview of current and future innovative trends. J Infect Public Health. 2024;17(4):559–572. doi:10.1016/j.jiph.2024.01.013.
- Haynes B et al. Developments in point-of-care diagnostic technology for cancer detection. Diagnostics. 2018;8(2):39. doi:10.3390/diagnostics8020039.
- Widdice LE et al. Performance of the Atlas rapid test of Chlamydia trachomatis and women’s attitudes toward point-of-care testing. Sex Transm Dis. 2018;45(11)723–727. doi:10.1097/OLQ.0000000000000865.
- Hong JM et al. Point-of-care diagnostic tests for tuberculosis disease. Sci Transl Med. 14(639):eabj4124. doi:10.1126/scitranslmed.abj4124.
- Wang C et al. Implementing digital systems to facilitate genetic testing for hereditary cancer syndromes: an observational study of 4 clinical workflows. Genet Med. 2023;25(5):100802. doi:10.1016/j.gim.2023.100802.
- Wagner IM et al. Racial disparities in accessing care along the continuum of cancer genetic service delivery. Cancer Epidemiol Biomarkers Prev. 2024;33(1)55–62. doi:10.1158/1055-9965.EPI-23-0596.
- Heidt B et al. Point of care diagnostics in resource-limited settings: a review of the present and future of PoC in its most needed environment. Biosensors. 2020;10(10):133. doi:10.3390/bios10100133.
- Kost GJ et al. Geospatial point-of-care testing strategies for COVID-19 resilience in resource-poor settings: rural Cambodia field study. JMIR Public Health Surveill. 2024; online ahead of print. doi:10.2196/47416.
- Xu H et al. An ultraportable and versatile point-of-care DNA testing platform. Sci Adv. 2020;6(17):eaaz7445. doi:10.1126/sciadv.aaz7445.
- Giraldi DM et al. Disparities in rural health care: a look at the field of laboratory medicine. Crit Values. 2018;11(4):40–45. doi:10.1093/crival/vay035.
- Kost GJ et al. Using geographic rescue time contours, point-of-care strategies, and spatial care paths to prepare island communities for global warming, rising oceans, and weather disasters. Int J Health Geogr. 2023;22(1):38. doi:10.1186/s12942-023-00359-y.
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