Study participants represent different clinical phenotypes in which delineation of the molecular etiology might be amenable to genome-scale sequencing. The major areas include:
Eligible patients should have certain hallmarks - including but not limited to, age of onset, severity, family history, or constellation of phenotypic features - suggestive of a monogenic etiology for their presenting signs or symptoms.
Excluded:2012 - March: First participant visit
2012 - June: First participant's whole exome sequenced
2012 - July: First participant variants analyzed by Molecular Analyst
2012 - September: First participant genetic results independently verified and diagnosed
2013 - January: First Results Discussion visit with participant
2013 - January: First participant randomized in/out of study
2013 - February: First implementation of independent participant ID Check system
2013 - February: First implementation of independent participant ID Check system
2013 - April: First participant report auto-generated
2013 - June: First additional incidental analysis available
2013 - August: First additional incidental analysis requested
2014 - February: First incidental analysis results returned
"],"attribution":["Principal Investigator - James P. Evans, MD, PhD - University of North Carolina, Chapel Hill, NC, USA","Funding Source - U01 HG006487 - National Institutes of Health, Bethesda, MD, USA"],"CSER-Consortium":["https://cser-consortium.org"],"repository":["dbGaP"],"description_synonyms":["CPD photolyase activity, dmBest1, Antemortem Diagnosis, Procedures, PhrB photolyase activity, Complete Exome, dUNC-13, Genetic Counseling, Neoplasms, adult stage, Prenatal, Benign Neoplasm, number, Incidental Discovery, Counseling, Tumor, photoreactivating enzyme activity, anon-WO0118547.380, pigmented epithelium, Malignant, Diagnosis, presence, DmelCG6264, Symptoms and Signs, deoxyribodipyrimidine photolyase activity, Dunc-13, Techniques, Method, heredity, Mass, symptoms, Studies, ARB, Screening, 3, Whole Transcriptome, Transcriptome Sequencing, stratum pigmentosa retinae, NUP96, Antemortem, Finding, epithelium, Technique, adult, portion of blood, study, Unc-13, Findings, WES, Counselor, Complete, MOS3, Exome Sequencings, deoxyribocyclobutadipyrimidine pyrimidine-lyase activity, Genetic, Malignancy, PRECOCIOUS, VMD2, Complete Exome Sequencing, Whole Transcriptome Sequencing, Munc-13, pigmented retina, F23A5.3, procedures, BMD, Diagnoses and Examinations, Sequencing, DNA cyclobutane dipyrimidine photolyase activity, dUnc-13, CG2999, SUPPRESSOR OF AUXIN RESISTANCE 3, genetic, Neoplasias, Study, Whole Exome, Dunc13, Methodological Studies, malignant neoplasm, data., Clients, Whole, UNC-13, Malignancies, constitutitional genetic, F23A5_3, Diagnose, RP50, Cancer, Tumors, Diagnostic Findings, Antemortem Diagnoses, screening, SIGNS SYMPTOMS, PRE, data, findings, Complete Exome Sequencings, CG6264, Malignant Neoplasm, whole blood, Discoveries, vertebrate blood, DESC, deoxyribonucleic cyclobutane dipyrimidine photolyase activity, Exome, familial, Random, dunc-13, Incidental Finding, Procedure, Client, results, Examination and Diagnoses, Diagnoses, Exome Sequencing, Signs and Symptoms, count in organism, drunc13, MODIFIER OF SNC1, MT, Benign, Postmortem, Screenings, Discovery, retinal pigment, Mass Screenings, consent, Examinations and Diagnoses, deoxyribonucleic photolyase activity, Neoplasm, Prenatal Genetic Counseling, dipyrimidine photolyase (photosensitive), Incidental Discoveries, Munc-13/UNC-13, UNC-13-B, techniques, Postmortem Diagnosis, TU15B, Adults, retinal pigment layer, dBest1, Diagnoses and Examination, Complete Transcriptome, Dbest, Postmortem Diagnoses, primary cancer, RPE, Complete Transcriptome Sequencing, best, photolyase activity, dbest1, Randomization, signs, DUNC-13, Benign Neoplasms, Allocation, Cancers, Methodological, Methodological Study, malignant tumor, Incidental, Malignant Neoplasms, p. pigmentosa retinae, phr A photolyase activity, DNA-photoreactivating enzyme, Physician, Patient, DmelCG2999, unc, Whole Exome Sequencing, inherited genetic, deoxyribonucleate pyrimidine dimer lyase (photosensitive), l(4)ry16, Transcriptome Sequencings, hereditary, Clinical Finding, BEST, Neoplasia, methodology"],"additional_accession":[]},"is_claimable":false,"name":"N.C. Clinical Genomic Evaluation by NextGen Exome Sequencing (NCGENES)","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 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 included here.
The third study release includes data of additional n=189 subjects.
","dates":{"last_modification":"2016-09-01","creation":"2016-09-01"},"accession":"phs000827","cross_references":{"MESH":["Genetic Testing"]}}