Genetic testing in neonatal and pediatric intensive care settings is a pivotal tool for diagnosing rare diseases, many of which have genetic underpinnings. Baylor Genetics discusses techniques such as Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES), which are utilized to uncover the genetic basis of diseases in infants and children. WGS is a method used to determine the complete DNA sequence of an organism's genome at a single time. This comprehensive approach allows scientists and clinicians to understand the entire genetic makeup of an individual, including all genes and the regions in between. WES focuses on sequencing only the exome, which consists of all the genome's exons—regions coding for proteins. This represents about 1% of the genome but contains the majority of known disease-related variants, making WES a cost-effective choice for targeting potential genetic disorders. These tests can detect a wide range of genetic disorders, facilitating early and accurate diagnoses crucial for determining the most effective treatments. Understanding a child's genetic makeup helps clinicians tailor interventions that are specific to the genetic abnormalities present, improving outcomes in these critical care scenarios. Diagnosing rare diseases in neonatal and pediatric settings is crucial because early detection can significantly improve outcomes. Many rare diseases can progress rapidly in young children, leading to severe complications or irreversible damage at a very early age. Early diagnosis allows for timely interventions, appropriate management strategies, and potential therapies that can halt or slow the progression of the disease, reduce symptoms, and improve quality of life. Additionally, understanding a child’s genetic condition early helps families make informed decisions about ongoing care and support.
Links:
https://www.baylorgenetics.com/news/what-parents-should-know-about-genetic-testing/
https://rareportal.org.au/importance-of-early-diagnosis-in-rare-disease/
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