The UNC-CH Center for Genomics and Society focuses on newly emerging ethical, legal and social implications (ELSI) of genomics research as the field matures and shifts its focus from small efforts to those on a much larger scale. These gene discovery and disclosure activities involve large numbers of individuals from whom DNA has been collected, studies with a small number of individuals whose whole DNA sequences are being examined, and the creation of complex data sets that may be linked in a variety of ways to multiple other sources of data. DNA collected in these activities may test a population for the presence of a known genetic disorder, use genotypic data to develop guides for drug dosing, combine genotype and phenotype data for large-scale prospective studies, collect and store DNA and environmental data in genetic registries, or consolidate DNA collected by multiple investigators to create a """"""""bank"""""""" for use in current or future exploratory studies. We argue that although large-scale gene discovery and disclosure efforts have tremendous scientific promise and the potential to lead more directly to changes in public policy or clinical practice, they also raise a wide range of ELSI issues not apparent in smaller-scale efforts. (1) """"""""Scaling up"""""""" may change the implications of genetic information for individuals, families, or populations, particularly when genetic findings are ascribed to individuals by virtue of their membership in socially defined groups. (2) Large-scale genomic research may alter challenges to informed consent in response to shifting estimations of risk and benefit. (3) New technologies and data collection and storage capacities may pose unique ELSI issues as investigators, subjects and relevant institutions grapple with regulation of the use of DNA samples, control of data, and their dissemination. (4) All of these concerns are also integral to understanding the most efficient and judicious translation of genomic research findings into clinical or public health practice. We have assembled an interdisciplinary team of investigators to conduct a research on these ELSI issues raised by large scale genomics;offer a research ethics consultation service for genomic researchers;facilitate policy initiatives that are informed by our research findings;and provide training, education, and outreach particularly focused on underrepresented minorities, to foster continued ELSI research on large-scale genomics. In addition to our goal of addressing public health priorities in newborn screening and in the translation of other genetic technologies, inclusion of underrepresented minorities in all aspects of our Center activities highlights the importance of consultation from populations with greatest interest in and most affected by large-scale genomic studies intended to address health disparities.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Specialized Center (P50)
Project #
5P50HG004488-05
Application #
8146213
Study Section
Special Emphasis Panel (ZHG1-HGR-P (O1))
Program Officer
Boyer, Joy
Project Start
2007-09-27
Project End
2013-06-11
Budget Start
2011-08-01
Budget End
2013-06-30
Support Year
5
Fiscal Year
2011
Total Cost
$1,142,549
Indirect Cost
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
Prince, Anya E R; Cadigan, R Jean; Henderson, Gail E et al. (2017) Is there evidence that we should screen the general population for Lynch syndrome with genetic testing? A systematic review. Pharmgenomics Pers Med 10:49-60
Lázaro-Muñoz, Gabriel; Conley, John M; Davis, Arlene M et al. (2017) Which Results to Return: Subjective Judgments in Selecting Medically Actionable Genes. Genet Test Mol Biomarkers 21:184-194
Waltz, Margaret; Cadigan, R Jean; Prince, Anya E R et al. (2017) Age and perceived risks and benefits of preventive genomic screening. Genet Med :
Cadigan, R Jean; Butterfield, Rita; Rini, Christine et al. (2017) Online Education and e-Consent for GeneScreen, a Preventive Genomic Screening Study. Public Health Genomics 20:235-246
Cohn, Elizabeth G; Henderson, Gail E; Appelbaum, Paul S (2017) Distributive justice, diversity, and inclusion in precision medicine: what will success look like? Genet Med 19:157-159
Skinner, Debra; Raspberry, Kelly A; King, Martha (2016) The nuanced negative: Meanings of a negative diagnostic result in clinical exome sequencing. Sociol Health Illn 38:1303-1317
Prince, Anya E R (2016) TANTAMOUNT TO FRAUD?: EXPLORING NON-DISCLOSURE OF GENETIC INFORMATION IN LIFE INSURANCE APPLICATIONS AS GROUNDS FOR POLICY RESCISSION. Health Matrix Clevel 26:255-307
Cadigan, R Jean; Nelson, Daniel K; Henderson, Gail E et al. (2015) Public Comments on Proposed Regulatory Reforms That Would Impact Biospecimen Research: The Good, the Bad, and the Puzzling. IRB 37:1-10
Lázaro-Muñoz, Gabriel; Juengst, Eric T (2015) CHALLENGES FOR IMPLEMENTING A PTSD PREVENTIVE GENOMIC SEQUENCING PROGRAM IN THE U.S. MILITARY. Case West Reserve J Int Law 47:87-113
Bailey Jr, Donald B; Wheeler, Anne; Berry-Kravis, Elizabeth et al. (2015) Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics 136:e433-40

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