Who can benefit from genomic sequencing?

Genomic sequencing, including whole-exome sequencing, has already demonstrated great promise in many areas of medicine. Whole-exome sequencing has been particularly successful in pediatric settings when a patient’s suspected genetic condition has eluded diagnosis. Many families with genetic diseases have benefited from the power of this technology and its ability to identify the underlying cause of their child’s condition.

Next steps

If the initial analysis of a patient’s whole exome does not uncover a diagnosis, the test can be reanalyzed annually so that the patient’s sequencing data can be compared to newly discovered genetic variants. With reanalysis, we can continue to make diagnoses for years to come.