Project Narrative Currently, there are marked differences in variant classification among clinical laboratories, and genetic variant classification is currently in flux with improvements in the access to ethnically diverse reference data and new algorithms to predict the pathogenicity of variants. As variants are re-classified over time, there is currently no definitive guidance from professional organizations about how to handle this variant reclassification and who has the duty to re-classify variants and what those obligations are.
PROJECT NARRATIVE This project will identify ways to demonstrate respect to prospective research participants that incorporate the perspectives of diverse patient populations who have been historically underrepresented in research. Demonstrating respect in a way that is meaningful to patients from diverse backgrounds has the potential to contribute positively to trusting, collaborative investigator-participant partnerships and to increase recruitment and retention in both the short term and the long term.
Duke's Center for the Study of Public Genomics will gather and analyze information about the role of publication, data sharing, materials-sharing, patenting, database protection, and other practices that affect information flow in genomics research and development. Managing intellectual property and ensuring the preservation of a robust "scientific commons" could prove as difficult as or more so than the science and technology, and could have as large of an impact on what results are produced, who has access to them, and how fairly they are distributed.
Probing Minority Views on Genetic Testing and Research Grant # F31HG004124 Grant period: 08/23/2006 - 08/22/2009 Minorities, particularly African Americans and Hispanics, are under-represented when it comes to utilizing genetic testing and participating in genetic research. Previous studies, largely survey-based, have noted this situation but have not explained the reasons for this disparity. My research program is geared toward understanding the views of minorities concerning genetic testing and concerning their participation in genetic research.
Understanding the social factors that influence the translation of genetic information to improved human health is a major objective of genomics research (Grand Challenges II-5,II-6 and III-1). One current approach for applying genomics to public health is to raise social awareness of family history as an independent, major risk factor for common diseases of adulthood in order to motivate appropriate preventive actions.
Emerging medical technologies are substantially improving our health care options, but often at considerable added cost. Cost-effectiveness and affordability are described as the fourth and fifth hurdles for new medical technologies, following the traditional three hurdles for licensing requirements: safety, efficacy, and quality. The Human Genome Project offers ample opportunity to improve human health through innovative genome-based technologies that have only recently become available.