Introduction
- Genome sequencing (GS) has become a key diagnostic tool in the evaluation of individuals with rare diseases.
- GS has been shown to establish molecular diagnoses at higher rates than targeted testing while reducing the need for sequential testing approaches.
- Because GS can increase opportunities for more informed clinical management, GS is now recommended
as a first-tier test for common clinical indications, such as intellectual disability and epilepsy, by professional and medical societies. - While GS is more comprehensive than targeted approaches, over 50% of individuals with a suspected genetic
condition still do not receive a definitive genetic diagnosis through GS.
