Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing.

Abstract excerpt

As with all fields of medicine, the first step toward medical management of genetic disorders is obtaining an accurate diagnosis, which often requires testing at the molecular level. Unfortunately, given the large number of genetic conditions without a specific intervention, only rarely does a genetic diagnosis alter patient management-which raises the question, what is the added value of obtaining a molecular...

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• Genetic Diseases, Inborn
• Genetic Predisposition to Disease
• Genetic Testing
• Genome, Human
• High-Throughput Nucleotide Sequencing