PROJECT NARRATIVE The sickle cell trait (SCT) screening program of the National Collegiate Athletic Association (NCAA) is regarded as one of the largest mandated genetic screening programs in the United States (US). Estimates suggest that over 2,000 NCAA Division I student-athletes with SCT will be identified under the screening policy and that, without intervention, about seven NCAA Division I student-athletes would die suddenly from a complication of SCT over a 10-year period.
Public Health Relevance Section Policies in the U.S. increasingly rely upon genomic information as a biometric to inform visa application processes, by verifying biological relationship claims or statehood claims, and broad DNA collection from non-criminals may help with missing persons, disaster victim, and terrorism investigations. The societal implications of these genomic applications are broad, with benefits and risks to the individuals undergoing testing, the communities in which they live, and the nation at large.
PROJECT NARRATIVE Health systems could work with genetic patients by directly notifying relatives who receive care in the same health system, but no U.S.-based care models have emerged and many questions with ethical and social implications remain. We propose a human-centered design and feasibility study of health system-led familial outreach and risk notification.
PUBLIC HEALTH RELEVANCE: Researchers engaged in conducting genetic and genomic science are significant players in advancing biomedical science and health care. Through their work, they are a vital part of the ethical, legal, and social outcomes of science, but there is a gp in knowledge concerning how genomic scientists navigate the complex ethical, legal, and social issues related to their research.
PROJECT NARRATIVE/ RELEVANCE OF PROJECT TO RESEARCH AND PUBLIC HEALTH Widespread utilization of genomic sequencing in medicine creates an urgent need to educate providers and patients. Currently, providers frequently misinterpret genomic information and patients often don't understand their own test results. In order to address this critical need, we propose to design and test multiple e-Health communication tools that will help providers and patients to better understand genomic data, lead to higher quality patient care, and facilitate genomic information sharing within families.
PROJECT NARRATIVE This study aims to analyze how diversity and inclusionary practices are conceptualized and operationalized by a range of stakeholders in precision medicine research in order to support the creation of policies and approaches that will achieve goals for greater inclusion of historically marginalized populations in biomedical research.
PROJECT NARRATIVE Preparation is often cited as a reason for offering and for accepting prenatal genetic screening and diagnosis. However, this term has no clear definition, and thus it is impossible either to prove benefit or to recommend best practices.
Project Narrative. Advances in psychiatric, neurologic and behavioral (PNB) genetics have brought the prospect of predictive and diagnostic genomic testing for many PNB conditions closer to clinical application. The potential for such findings to profoundly affect core elements of personhood?including identity, perceived responsibilities, and life trajectories?makes it essential to understand the impact of such information on individuals and families.
Project Narrative The lack of American Indian and Alaska Native professionals in genomic sciences today highlights the tremendous need for effective training and research programs to prepare the next generation of indigenous students to be successful in their pursuit of careers in genetics research. This program combines didactic and experiential training activities, together with indigenous and community-based models of learning, to engage underrepresented Native students in research on the ethical, legal, and social implications of genomics research.
This Pathway to Independence Award (K99/R00) will prepare the candidate to become an interdisciplinary ELSI researcher with a high-quality, independently funded research program exploring the influence of the genome sciences ? including epigenetics ? on conceptualizations and understandings of health, disease, and individual responsibility. This study examines conceptualizations of epigenetics related to children's psychiatric, behavioral, and neurodevelopmental health and their translation to community settings.