Modern biomedical research and clinical diagnosis of pediatric patients rely heavily on the use of massively parallel DNA sequencing technologies. At the Rasmussen Institute for Genomic Medicine, these technologies provide a foundational mechanism to uncover new genetic clues to disease development and severity, which is fueled by patient-centric research studies focused on a broad spectrum of diseases ranging from epilepsy to psychiatric genetics, from cardiology to immunology, and from craniofacial defects to cancer. In our clinical laboratory, massively parallel sequencing is utilized to refine the diagnosis of cancers and complex medical genetics cases, including the rapid diagnosis of critically ill babies in our neonatal intensive care unit within 72 hours. These results, in turn, inform patient care decisions and ensure the best outcomes for our patients. More recently, our expertise in genomics-focused cancer diagnosis has expanded its scope to include clinical molecular profiling of pediatric cancer patients across the United States, who are being enrolled onto the Children’s Oncology Group (COG) Project Every Child (APEC15B1) registry. Funded by the National Cancer Institute, this project will evaluate the importance of broad genomic profiling of DNA and RNA for cancer patients as a screening mechanism to direct their accrual onto COG clinical trials over the next five years and will revolutionize the way that U.S.-based pediatric cancer patients are diagnosed and treated into the future. As our activities in research and clinical diagnosis in the pediatric setting have grown, so has our need for sequencing capacity, including the need to reserve capacity on a daily basis, to accommodate rapid/rush cases that present in our hospital. In addition, the demands of clinical testing include satisfying turnaround time specifications that closely correspond to the reliance on these results to guide patient care decisions in real time.
Hence, we are requesting CDS funds to purchase, install and use a massively parallel sequencing instrument (NovaSeq 6000) from Illumina, Inc., to further our efforts in research and clinical genomics, impacting the lives of children in Ohio and across our nation for the years to come.