The overall aim of the Center for Genomics and Society (CGS) renewal plan is to carry out an integrated set of transdisciplinary research, training, and policy activities addressing ethical, legal and social Issues involved in the application of genomics to the general public. Genomic testing is already being offered to the general public in an unstudied way by direct-to-consumer companies and through other venues and the use of DNA sequencing to screen populations for preventable health risks is being discussed. But before this potential application of genomics can be realized in the broad population, a number of important ethical, legal, and social concerns will need to be addressed. To create a real-world context in which to study this application of genomics, CGS investigators will design and conduct a trial protocol informed by ELSI perspectives, recruiting 1,000 individuals within a controlled setting, focusing on both highly penetrant rare mutations that place people at risk for eminently preventable conditions and on the assessment of genomic risk for common disease. Unlike other pilot studies aimed at the rapid clinical Implementation of genomics, this interdisciplinary trial is framed to address the key moral questions that the Idea of genomic sequencing for disease prevention raises;what loci and analyses are most appropriate for population-based application? Who within the general population would be the most appropriate users of such a service? How can population genomic sequencing be best Implemented in practice, and with what consequences? Policy recommendations based on the arguments and evidence for and against targeted genomic sequencing in the general population will be formulated, taking into account the harms and benefits, and the personal, clinical, and justice implications. Transdisciplinary research activities will extend CGS collaborations across academic and non-academic communities, and open opportunities for future studies that will extend and complement our research agenda. These research activities have clear, immediate implications for health policy, for professional guidelines, and ultimately for policies that guide genomic research and practice.

Public Health Relevance

This project addresses NIH research priorities related to genomic health care by conducting research to address how evolving genomic technologies can be practically and ethically used in general medical care. The identification of asymptomatic individuals in the population at large who are at high risk for preventable disease represents an important opportunity as genomics is increasingly applied to the general population.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Specialized Center (P50)
Project #
5P50HG004488-07
Application #
8677935
Study Section
Special Emphasis Panel (ZHG1-HGR-P (J1))
Program Officer
Boyer, Joy
Project Start
2007-09-27
Project End
2018-05-31
Budget Start
2014-06-01
Budget End
2015-05-31
Support Year
7
Fiscal Year
2014
Total Cost
$1,165,601
Indirect Cost
$397,622
Name
University of North Carolina Chapel Hill
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
608195277
City
Chapel Hill
State
NC
Country
United States
Zip Code
27599
Henderson, Gail E; Wolf, Susan M; Kuczynski, Kristine J et al. (2014) The challenge of informed consent and return of results in translational genomics: empirical analysis and recommendations. J Law Med Ethics 42:344-55
Haldeman, K M; Cadigan, R J; Davis, A et al. (2014) Community engagement in US biobanking: multiplicity of meaning and method. Public Health Genomics 17:84-94
Prince, Anya E R; Roche, Myra I (2014) Genetic information, non-discrimination, and privacy protections in genetic counseling practice. J Genet Couns 23:891-902
Roche, Myra I; Palmer, Christina G S (2014) Next generation genetic counseling: introduction to the special issue. J Genet Couns 23:439-44
Dressler, Lynn G; Jones, Sondra Smolek; Markey, Janell M et al. (2014) Genomics education for the public: perspectives of genomic researchers and ELSI advisors. Genet Test Mol Biomarkers 18:131-40
Cadigan, R Jean; Juengst, Eric; Davis, Arlene et al. (2014) Underutilization of specimens in biobanks: an ethical as well as a practical concern? Genet Med 16:738-40
Walker, Rebecca L; Morrissey, Clair (2014) Bioethics methods in the ethical, legal, and social implications of the human genome project literature. Bioethics 28:481-90
Edwards, Teresa; Cadigan, R Jean; Evans, James P et al. (2014) Biobanks containing clinical specimens: defining characteristics, policies, and practices. Clin Biochem 47:245-51
Green, Robert C; Berg, Jonathan S; Grody, Wayne W et al. (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 15:565-74
Berg, Jonathan S; Adams, Michael; Nassar, Nassib et al. (2013) An informatics approach to analyzing the incidentalome. Genet Med 15:36-44

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