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Here at Premier Medical Laboratory Services (PMLS), our mission is to help physicians provide the best care to their patients while remaining an industry leader through cutting-edge technology and scientific innovation. Our Next Generation Sequencing (NGS) capabilities set PMLS apart from other laboratories. NGS has allowed us to expand our genomic research to fulfill our mission. NGS gives our researchers the ability to rapidly sequence whole genomes, utilize deep sequencing techniques for variant discovery, detect epigenetic modifications, profile tumors derived from various tissues, explore the human microbiome, identify novel pathogens, and much more.  

Throughout the COVID-19 pandemic, our world was searching for answers. PMLS was more successful than most laboratories because our NGS research created solutions. With NGS capabilities at PMLS, we’ve been able to track SARS-CoV-2 transmission routes and hotspots, detect mutations stopping the spread of new strains, identify viral mutations that mask, or help targeted strains avoid detection from current molecular diagnostic tests, screen targets for possible COVID-19 therapeutics, and identify viral mutations that may affect vaccine potency. (1,2) PMLS utilizes various methods across multiple platforms for SARS-CoV-2 sequencing; therefore, we are uniquely positioned to tailor our approach to LDH’s fluctuating volume and other challenges. 

NGS can be used for prenatal diagnosis. Noninvasive Prenatal Testing (NIPT) offers genetic screening for chromosomal conditions in as early as ten weeks into the pregnancy. The noninvasive method requires only one tube of blood from the mother carrying the fetus. Once the blood sample has been taken, NGS technology analyzes cfDNA fragments across the whole genome for common chromosomal conditions. NIPT provides high detection rates, low false-positive results, and no risk to the mother or baby. 

Finally, NGS enables PMLS to detect inherited germline mutations associated with hereditary cancer risk. The more our researchers learn about genetic mutations, the more we can take preventative measures to reduce the likelihood of developing cancer. NGS methods rapidly sequence known or suspected hereditary cancer risk-related genes. Consequently, many germline mutations and novel germline variants, linked to cancer, can be detected at once. To reduce sequencing costs, targeted sequencing studies use hereditary cancer panels to assess only specific genes with known cancer predisposition. 

In conclusion, NGS has allowed Premier Medical Laboratory Services the ability to grow, develop, and advance our genomic research in COVID-19 sequencing, non-invasive prenatal diagnosis, and cancer screening. Our NGS technology will continue to allow PMLS to act as an industry leader by fulfilling our mission to help physicians provide the best care to their patients.