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PrintClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
Family History Tool
Quick access to the family history tool for ClinSeq participants.
Study Description
The ClinSeq study will enlist a cohort of approximately 1,000 individuals who will be evaluated at the National Institutes of Health (NIH) Clinical Research Center for a common set of cardiovascular features, including, but not limited to, coronary artery calcification, lipid profiles and blood pressure. Participants will be selected to fall within a spectrum of coronary artery calcification from normal to disease phenotype. During their initial visit, participants will undergo a clinical evaluation, targeted clinical tests and blood sample collection for genomic analysis. Additionally, they will also be asked to provide baseline information about pertinent health behavior and a family history.
For each individual, functional regions of approximately 200 to 400 candidate genes for the cardiovascular phenotype will be sequenced at the NIH Intramural Sequencing Center (NISC). This study will further our understanding of the relative contributions of rare versus common variants to the architecture of common disease. Currently, only direct sequencing can address the question of the frequency of rare variants, which is of particular interest to us. We will test for associations of genomic variants, some of which will be rare, with the cardiovascular phenotype in question. We have started developing analytic algorithms to distinguish potentially pathogenic genetic alterations from normal variation. Sequence variants deemed clinically relevant will be validated in a Clinical Laboratory Improvement Amendments (CLIA) certified laboratory and the results returned to that subject. ClinSeq is being designed in a way that will provide the long-term potential for pursuing many different clinical projects. Thus, in the future, ClinSeq will be broadened with regard to its clinical focus, and additional, pertinent sets of genes will be sequenced.
We aim to pilot procedures for generating data, address some of the analytical hurdles of interpreting these data, and develop approaches for the medical and counseling challenges of utilizing the relevant data for clinical research.
Last Reviewed: April 19, 2012
