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.
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.
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|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|
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|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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