NCGENES: North Carolina Clinical Genomic Evaluation by NextGen Exome Sequencing
| Status: | Completed |
|---|---|
| Conditions: | Cancer, Cancer, Other Indications, Other Indications, Peripheral Vascular Disease, Neurology, Women's Studies |
| Therapuetic Areas: | Cardiology / Vascular Diseases, Neurology, Oncology, Other, Reproductive |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 5/4/2017 |
| Start Date: | August 2012 |
| End Date: | March 1, 2017 |
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.
This sub-project is investigating benefits and harms of providing WES diagnostic and
different types of incidental findings to adult patients and parents of pediatric patients
who undergo WES because they have symptoms suggesting genetic disease.
next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care.
This sub-project is investigating benefits and harms of providing WES diagnostic and
different types of incidental findings to adult patients and parents of pediatric patients
who undergo WES because they have symptoms suggesting genetic disease.
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 University of North Carolina 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 (Clinical Laboratory
Improvement Amendments)-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 behavioral responses to sequencing and receiving sequencing information.
This is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return
of results, with both quantitative and qualitative methods used to gather data). Because
only the quantitative component of the study uses randomization, only measures and
procedures associated with that component are described here.
next-generation sequencing (in particular, whole exome sequencing, or WES) in clinical care.
Participants are patients who were either seen in the University of North Carolina 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 (Clinical Laboratory
Improvement Amendments)-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 behavioral responses to sequencing and receiving sequencing information.
This is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return
of results, with both quantitative and qualitative methods used to gather data). Because
only the quantitative component of the study uses randomization, only measures and
procedures associated with that component are described here.
- To receive whole exome sequencing in the study, adult or child patients must have a
significant chance of having a genetic disorder, as determined by experts on the study
team using criteria that depend on the genetic disorder in question. Representative
criteria are listed below and will be considered together to determine whether patterns
indicate a likely genetic etiology.
Cancer
- Age of diagnosis
- Presence of bilateral (or multiple) cancers
- Diagnosis of a rare type of cancer
- Details of the family history
Cardiovascular Conditions
- Certain clinical findings, such as prolonged QT interval on electrocardiogram.
- Presence of hypertrophic cardiomyopathy or aortic aneurysm
- Age of diagnosis
- Presence of family history
Pediatric neurodevelopmental disorders
- Specific brain structural brain abnormalities
- Presence of certain seizure types
- Dysmorphic features
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