The arrival of genomic medicine was presaged by the publication of the draft human genome sequence in 2001.1,2 Now, the application of genome-scale sequencing is being rapidly adopted in academic centers in cases for which numerous individual genetic tests would be required for evaluation, the condition is genetically heterogeneous, or genetic testing is simply not available to evaluate the suspected diagnosis. Developmental delay in children is an example of an indication for such testing.
Berg JS. Genome-Scale Sequencing in Clinical Care: Establishing Molecular Diagnoses and Measuring Value. JAMA. 2014;312(18):1865–1867. doi:10.1001/jama.2014.14665
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