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 cohort * Continuing to improve upon existing algorithms for generating and interpreting sequence data * Build and offer this cohort as a resource for addressing biomedical research questions including investigating the association of genomic variants with traits and phenotypes However, 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 the accuracy 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.