Evaluation of diagnostic health technology (e.g., exome sequencing) must consider both the clinical scenario that prompts the use of this technology and the desired outcome to be achieved by its use. Widespread adoption of ES by practitioners and payers requires evaluation of its “safety, efficacy, feasibility, and the indications for use, cost, and cost-effectiveness, as well as social, economic, and ethical consequences, whether intended or unintended” [55]. Therefore, in addition to evaluating the diagnostic capabilities of ES, it is important to explore other health-related outcomes, including diagnostic thinking, therapeutic choice, medical outcomes, and familial/societal impacts. Thus, a broad definition of clinical utility goes beyond considerations of diagnostic yield to also include patient and family consequences as well as defined health outcomes.

The second intervention seeks to provide information about the clinical utility of ES as it is broadly defined by randomizing participants to be offered ES testing versus no offer of ES testing. In addition, the current study will build upon our experience in sample tracking, library preparation, and sequencing and analysis developed during the original NCGENES study.

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