North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing

Group photoThe aim of this project is to establish a set of best practices to guide future implementation of genomic technologies for the practical improvement of human health. To achieve this, the group is exploring the use of whole exome sequencing as a diagnostic tool in the care of a broad array of patients, including traditionally underrepresented populations. It will evaluate its performance, identify critical clinical characteristics which can guide its application, and measure the impact of such information on patients and providers. In addition, educational materials will be developed to enable patients to make decisions about appropriate return of results and the impact of collateral information will be assessed at the level of the provider, laboratory, and patient.