Dataset Information

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

ABSTRACT: Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is exploring analytic and clinical validity and utility, as well as the ethical, legal, and social implications of sequencing via multidisciplinary approaches; it has thus far recruited 5,577 participants across a spectrum of symptomatic and healthy children and adults by utilizing both germline and cancer sequencing. The CSER consortium is analyzing data and creating publically available procedures and tools related to participant preferences and consent, variant classification, disclosure and management of primary and secondary findings, health outcomes, and integration with electronic health records. Future research directions will refine measures of clinical utility of CGES in both germline and somatic testing, evaluate the use of CGES for screening in healthy individuals, explore the penetrance of pathogenic variants through extensive phenotyping, reduce discordances in public databases of genes and variants, examine social and ethnic disparities in the provision of genomics services, explore regulatory issues, and estimate the value and downstream costs of sequencing. The CSER consortium has established a shared community of research sites by using diverse approaches to pursue the evidence-based development of best practices in genomic medicine.

SUBMITTER: Green RC

PROVIDER: S-EPMC4908179 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature

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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Green Robert C RC Goddard Katrina A B KAB Jarvik Gail P GP Amendola Laura M LM Appelbaum Paul S PS Berg Jonathan S JS Bernhardt Barbara A BA Biesecker Leslie G LG Biswas Sawona S Blout Carrie L CL Bowling Kevin M KM Brothers Kyle B KB Burke Wylie W Caga-Anan Charlisse F CF Chinnaiyan Arul M AM Chung Wendy K WK Clayton Ellen W EW Cooper Gregory M GM East Kelly K Evans James P JP Fullerton Stephanie M SM Garraway Levi A LA Garrett Jeremy R JR Gray Stacy W SW Henderson Gail E GE Hindorff Lucia A LA Holm Ingrid A IA Lewis Michelle Huckaby MH Hutter Carolyn M CM Janne Pasi A PA Joffe Steven S Kaufman David D Knoppers Bartha M BM Koenig Barbara A BA Krantz Ian D ID Manolio Teri A TA McCullough Laurence L McEwen Jean J McGuire Amy A Muzny Donna D Myers Richard M RM Nickerson Deborah A DA Ou Jeffrey J Parsons Donald W DW Petersen Gloria M GM Plon Sharon E SE Rehm Heidi L HL Roberts J Scott JS Robinson Dan D Salama Joseph S JS Scollon Sarah S Sharp Richard R RR Shirts Brian B Spinner Nancy B NB Tabor Holly K HK Tarczy-Hornoch Peter P Veenstra David L DL Wagle Nikhil N Weck Karen K Wilfond Benjamin S BS Wilhelmsen Kirk K Wolf Susan M SM Wynn Julia J Yu Joon-Ho JH

American journal of human genetics 20160512 6

Despite rapid technical progress and demonstrable effectiveness for some types of diagnosis and therapy, much remains to be learned about clinical genome and exome sequencing (CGES) and its role within the practice of medicine. The Clinical Sequencing Exploratory Research (CSER) consortium includes 18 extramural research projects, one National Human Genome Research Institute (NHGRI) intramural project, and a coordinating center funded by the NHGRI and National Cancer Institute. The consortium is ...[more]

PMID: 27181682

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Project description:BackgroundIncreasing diversity in clinical trial participation is necessary to improve health outcomes and requires addressing existing social, structural, and geographic barriers. The Clinical Sequencing Evidence-Generating Research Consortium (CSER) included six research projects to enroll historically underrepresented/underserved (UR/US) populations in clinical genomics research. Delays and project re-designs emerged shortly after work began. Understanding common experiences of these projects may inform future trial implementation.MethodsSemi-structured interviews with six CSER principal investigators and seven project managers were performed. An interview guide included questions of research/clinical infrastructure, logistics across sites, language, communication, and allocation of grant-related resources. Interviews were recorded, transcribed verbatim; transcripts were analyzed using inductive coding, thematic analysis and consensus building.ResultsAll projects collaborating with new clinical sub-sites to recruit UR/US populations. Refining trial logistics continued long after enrollment for all projects. Themes of challenges included: sub-site customization for workflow and genetics support, conflicting input from participant advisory groups and approval bodies, developing research personnel, complex data management structures, and external changes (e.g. subcontractors ending contracts) that required redesign. Themes of beneficial lessons included: domains with prior experience were easier, develop project champions at each sub-site, structure communication within the research team, and simplify research design when possible.ConclusionsThe operational aspects of expanding clinical research into novel sub-sites are significant and require investment of time and resources. The themes arising from these interviews suggest priority areas for more quantitative analyses in the future including multi-institutional approval policies and processes, data management structures, and incremental research complexity.

Dataset Information

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

Publications

Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.

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