ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study : ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study

The purpose of ClinSeq is to research large-scale medical sequencing (LSMS) in a clinical research setting. It was developed at a time (approximately 2007) when little was known about the processes and outcomes of doing so. By conducting LSMS and returning individual results to participants, we intended to investigate some of the technical, medical, and genetic counseling issues that accompanied the implementation of LSMS in the clinical setting. Three of our objectives have been met and the relevant findings have largely been published including:Developing methods for recruiting and consenting a large, racially-diverse cohortContinuing to improve upon existing algorithms for generating and interpreting sequence dataBuild and offer this cohort as a resource for addressing biomedical research questions including investigating the association of genomic variants with traits and phenotypesHowever, there is still much to be learned regarding LSMS, much of which is pertinent to our original aim of improving our understanding of socio-behavioral aspects of implementation of LSMS in a clinical research setting. Remaining objectives include:To understand patient outcomes (e.g., health behavior, communication, personal utility, emotional) following the receipt of medically actionable results.To investigate the impact of an intervention designed to promote better understanding of theaccuracy of genetic sequencing among those consenting to LSMS.To investigate the outcomes of returning negative secondary findings reports via a website and compare two versions of a slide developed to improve women s understanding of their residual risk for breast cancer following the receipt of such a report.To identify genetic risk factors for diabetes and other metabolic diseases related to glucose metabolism..

Medienart:	Klinische Studie

Erscheinungsjahr:	2024
Erschienen:	2024

Enthalten in:	ClinicalTrials.gov - (2024) vom: 29. März Zur Gesamtaufnahme - year:2024

Sprache:	Englisch

Links:	Volltext [kostenfrei]

Themen:	610 Coronary Artery Disease Heart Diseases Myocardial Ischemia Recruitment Status: Active, not recruiting Study Type: Observational

Anmerkungen:	Source: Link to the current ClinicalTrials.gov record., First posted: December 12, 2006, Last downloaded: ClinicalTrials.gov processed this data on April 03, 2024, Last updated: April 03, 2024

Study ID:

NCT00410241 070002 07-HG-0002

Veröffentlichungen zur Studie:

Panganamala RV, Sharma HM, Sprecher H, Geer JC, Cornwell DG. A suggested role for hydrogen peroxide in the biosynthesis of prostaglandins. Prostaglandins. 1974 Oct 10;8(1):3-11. doi: 10.1016/0090-6980(74)90031-8. No abstract available. Freed ED, Miller A. An analysis of a continuing medical education questionnaire sent to psychiatrists in the Southern Transvaal. S Afr Med J. 1979 Aug 4;56(5):177-80. Huggenvik JI, Craven CM, Idzerda RL, Bernstein S, Kaplan J, McKnight GS. A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. Blood. 1989 Jul;74(1):482-6.

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PPN (Katalog-ID):	CTG000105694