NCGENES aims to evaluate the performance of whole exome sequencing (WES) as a diagnostic tool in diverse contexts. Upon completion of the project, NCGENES aims to have established infrastructure to apply genomic sequencing for the benefit of patients.
NCGENES has four overall study aims:
- Aim 1: Evaluate the use and performance of WES as a diagnostic tool
- Aim 2: Evaluate the occurrence, use and impact of incidental WES information. The clinical use of WES requires addressing the challenge of incidental information that is inevitably generated with WES.
- Aim 3: Develop practical, ethical and clinically-orientated mechanisms to facilitate interpretation, management, reporting and patient decision making about WES information.
- Aim 4: Apply WES to underserved groups to discover special opportunities and challenges to the broad implementation of WES in a clinical setting.