Rare Disease Diagnosis The Promise of Whole-Genome Sequencing in Pediatrics Abstract Rare diseases collectively affect millions of children worldwide and represent a significant source of morbidity, mortality, and long term disability. Although individual rare disorders have low prevalence, their cumulative impact places a substantial
Tag: Genetic testing
Precision Endocrinology: How Genomic Testing Improves Thyroid Treatment Outcomes
Precision Endocrinology How Genomic Testing Improves Thyroid Treatment Outcomes Introduction Precision endocrinology represents a paradigm shift in the management of thyroid disorders, grounded in an expanding body of genetic and molecular evidence. Large scale genetic studies have demonstrated that approximately 57 to 71 percent
JAK2, CALR, and MPL Mutations: Advanced Treatment Strategies That Work
Genomics and Personalized Medicine: New Clinical Evidence Shows 85% Better Patient Outcomes
Genetic Testing for Cancer: New Evidence Questions Universal Screening Protocol
