Noninvasive prenatal genetic testing (NIPT) is revolutionizing the practice of obstetrics. However, the technol- ogy is expanding rapidly and in a way that has outpaced the rate at which evidence-based strategies for its in- tegration can be developed and implemented. Initially, NIPT was used as a screen for a limited number of an- euploidies and genetic conditions.
The overall goal of this proposed project is to systematically develop culturally appropriate model ethics guidelines for conducting genetics and genomics research (GGR) in Uganda.
The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy--especially genomic results for adult-onset conditions that are not medically actionable in childhood. Returning results for adult-onset conditions can spur life-saving preventive measures in the parents of affected children. However, there has been long-standing concern that children who receive a result for an adult-onset condition might experience negative psychosocial outcomes such as distress or altered family functioning.
Sexual and gender minorities (SGMs) experience significant disparities in health and health care. These inequities result from complex interactions among social, political, environmental, and genomic factors, all of which must be understood if we are to address these disparities. The research needed to understand the health issues faced by SGM populations will often require analysis of large collections of individual phenotypic and behavioral information, community characteristics, and large-scale genomic data.
Through the combined study of individual variation in genes, environment, and lifestyle, precision medicine research offers the potential for discoveries that will improve human health. Spurred by the declining cost of next-generation sequencing, widespread use of electronic health records, proliferation of wearable devices, and other technological advances, the immense scale required for such research is now within reach. These same characteristics, however, escalate the challenge of protecting research participants.
Project Narrative The potential benefits and harms of returning genomic results to children and their parents are matters of enduring controversy?especially genomic results for adult-onset conditions that are not medically actionable in childhood. Empirical data to support either position in this controversy are, however, lacking.
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 The goal of this study is to study the effect of an evidence-based communication tool to support patients? decision-making about noninvasive prenatal genetic testing, by focusing on the communication that takes place in the clinical encounter.