![]() The present promises of molecular diagnostics are a tip of the ice berg, and now is the time to address the hitches that prevent expansion of their use. These and many other examples build a strong case for routine use of molecular diagnostics even in the face of, largely surmountable, challenges 7. Molecular methods can increase pathogen identification in patients with meningitis several-fold, as shown by the examination of archived samples from Bangladesh 6, which trebled the conventional sensitivity and retrospectively uncovered a chikungunya virus outbreak. Culture followed by whole-genome sequencing (WGS) made it possible to simultaneously identify the unusual etiologic agents of neonatal sepsis in hospitals in the Gambia, determine their antimicrobial resistance profiles and pinpoint nosocomial outbreaks 5. In both instances, the advance information provided by on-the-spot PCR testing provided early insights that guided the public health response 3. Unexpected appearance of Ebola and Yellow fever hemorrhagic viruses in Nigeria in the past decade was rapidly detected using molecular methods weeks before more standard reference techniques could be deployed. Success case studies for molecular diagnostic applications in low-income settings extend well beyond COVID-19. Supply chains for pathogen-specific diagnostics are also complex, easily disrupted and difficult to adjust to new pathogens. Serological methods, although typically much faster and simpler, often do not provide the breadth and depth of information needed to make informed and effective decisions, sometimes lack specificity and are not available for many pathogens. The impact of culture-based methods on patient care, infection prevention and control, and outbreak responses is further limited by long turnaround times and challenges in quality assurance. Some pathogens are cheap to culture, whereas culture is costly for others. However, traditional culture-based clinical microbiology, typically deemed ‘appropriate’, has been notoriously difficult to sustain at the required quality in lowest-income settings without external support 1, 2. Despite their utility and precision, molecular diagnostics were deemed ‘inappropriate’ for decades, as they were considered to be too finicky, contamination-prone, expensive and technically complex to be used where resources are constrained, skills in short supply and infrastructure not up to date. The Molecular Diagnostics Laboratory complements these tests by performing in situ hybridization and quantitative PCR to assay for Epstein-Barr virus and supports the 16S ribosomal RNA DNA sequencing test to identify bacteria.A golden rule for building laboratory capacity in resource-limited settings is selecting techniques that are workable and can be sustained. The Clinical Virology Laboratory tests for multiple viral pathogens, whereas the Clinical Microbiology Laboratory tests for M. ![]() Other department laboratories perform molecular testing for microorganisms. We also perform several additional genetic tests including hemochromatosis and cystic fibrosis screens for adults and in conjunction with the prenatal laboratory for newborns.Ī listing of our testing can be found here. ![]() ![]() ![]() Hematopathology is a main focus of our lab with testing performed in genetic analysis of hematologic malignancies for diagnosis and therapeutic decision-making, coagulation genetics, and evaluation of stem-cell transplant patients. The three broad areas of testing we provide are: We offer a wide array of tests at the forefront of molecular diagnostics and precision medicine. The Molecular Diagnostics Laboratory is responsible for the development and performance of molecular diagnostic tests for nucleic acid targets found in a variety of settings in medicine. ![]()
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