DESIGN, TESTING, AND TROUBLESHOOTING OF INDUSTRIAL EQUIPMENT: A SYSTEMATIC REVIEW OF INTEGRATION TECHNIQUES FOR U.S. MANUFACTURING PLANTS

Abstract

This systematic review provides an in-depth examination of Allele-Specific Polymerase Chain Reaction (AS-PCR) as a pivotal diagnostic methodology in the field of molecular genetics, with a specific focus on its diagnostic efficacy, methodological development, and translational applications in clinical and public health settings. AS-PCR, a targeted DNA amplification technique, has emerged as a foundational tool for the rapid and precise detection of single nucleotide polymorphisms (SNPs) and known point mutations. Renowned for its high specificity, cost-effectiveness, and operational simplicity, AS-PCR remains particularly valuable for resource-constrained environments and targeted genetic screening initiatives. This review systematically analyzes 86 peer-reviewed articles published between January 1990 and March 2023, encompassing a wide range of applications in monogenic disorders, hereditary cancer syndromes, reproductive health, and population-level screening programs. The collective evidence underscores the broad utility of AS-PCR in the diagnosis of inherited conditions such as beta-thalassemia, cystic fibrosis, sickle cell anemia, Tay-Sachs disease, and various autosomal recessive and dominant disorders. It has also proven indispensable in identifying pathogenic mutations associated with hereditary cancer syndromes, including BRCA1/2 mutations linked to familial breast and ovarian cancers and mismatch repair genes implicated in Lynch syndrome. Across these studies, AS-PCR consistently demonstrated diagnostic sensitivity and specificity rates above 95%, positioning it as a reliable frontline assay for early risk detection and carrier screening. The method’s speed and simplicity have allowed it to be effectively incorporated into neonatal screening programs, preimplantation genetic diagnosis (PGD), and cascade testing protocols, especially in populations with high consanguinity or founder mutations. Several national health systems have leveraged AS-PCR for population-wide screening initiatives aimed at reducing disease incidence through early intervention and reproductive counseling. Importantly, AS-PCR's adaptability to various sample types—such as peripheral blood, dried blood spots, and buccal swabs—has facilitated its deployment in diverse clinical and field settings, particularly in low- and middle-income countries (LMICs). Studies from South Asia, sub-Saharan Africa, the Middle East, and parts of Latin America have demonstrated the feasibility of conducting AS-PCR in decentralized or mobile diagnostic laboratories using basic thermal cyclers and minimal reagent sets. This has greatly expanded access to genetic testing in settings where next-generation sequencing (NGS) platforms remain impractical due to cost, infrastructure, or workforce limitations. AS-PCR’s successful integration into mobile health (mHealth) and public health outreach programs illustrates its relevance in achieving diagnostic equity and bridging healthcare disparities across global populations. This makes it an ideal tool for targeted screening, especially where prevalence data or ethnic mutation profiles are well-established.