About this Research Topic
Advances in genomic sequencing technologies have greatly expanded the ability to identify underlying genetic diagnosis in critically-ill patients. Diagnostic approaches employing massively-parallel sequencing for multi-gene panels, rapid exome or genome sequencing have been demonstrated in multiple studies to have a high diagnostic yield and medical care impact for these patients. Examples of this impact include: suggesting new dietary or pharmacologic therapies or stem cell or solid organ transplant, outlining a plan for healthcare surveillance, or assisting parents in making end-of-life decisions. Additionally, identifying a molecular genetic diagnosis may indicate other family members at risk for medical complications or aid the parents in reproductive decision-making. However, important questions still remain. Which patients should have genetic testing? Which is the best genetic test for each patient (gene panel versus exome versus genome sequencing)? What is the cost-effectiveness of genomic sequencing in the context of critical care medicine? What is the impact of the diagnosis on the patient’s family?
Furthermore, the ethical, legal and social implications associated with such technologies must be addressed before they can be widely used in ICUs. For this Research Topic, we are interested in manuscripts evaluating a variety of approaches to genetic diagnosis in the intensive care unit and the relationship of a genetic diagnosis to clinical outcomes. We are interested in exploring the use of artificial intelligence-based approaches for patient identification and phenotype-driven approaches as well as the optimal timing for genetic testing and how to select the appropriate test. We are also interested in manuscripts addressing specific therapies that are guided by a genetic diagnosis and those dealing with the ethical, legal, and social implications of genetic testing. Manuscripts may include original research, case studies, and systematic or narrative reviews. Overall, this Research Topic will serve to delineate current state-of-the-art genomic sequencing approaches in the intensive care unit as well as the future of diagnosis and management for critically-ill pediatric patients.
Keywords: genome, exome, sequencing, genetic diagnosis, intensive care
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