Study

North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES)

Study ID Alternative Stable ID Type
phs000827 Case Set

Study Description

North Carolina Clinical Genomic Evaluation by Next-generation Exome Sequencing

This study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care. Participants are patients who were either seen in the UNC Cancer and Adult Genetics Clinic or referred to the study by their physician. They will be approached by their physician or a genetic counselor for recruitment. Once enrolled, a clinical geneticist or genetic counselor will obtain consent and collect blood samples to be analyzed using WES. Results may include information related to a diagnosis and incidental information. Medically actionable incidental findings will be CLIA-certified and returned to participants in a routine genetic counseling session, along with diagnostic findings. Eligible adult participants will be randomized to have the opportunity to choose to get certain types of non-medically actionable incidental findings, as well. Their decisions will be investigated, as will psychosocial and ... (Show More)

Archive Link Archive Accession
dbGaP phs000827

Who archives the data?

There are no publications available