As evidenced by the endless reports of new discoveries in genetics and genomics over the past few decades, the public's views will substantially influence the uptake and use of these new applications for personal and societal benefit. Informed decision-making regarding the use of genomic applications will depend on public understanding of both basic scientific concepts and social implications to enable consideration of personally significant risks and benefits. Furthermore, informed publics are critical for the large population studies often required in genome sciences.
Health information technology (HIT) is believed to be central to improving the quality and cost effectiveness of health care in the United States. As a result of recent major federal investment, the diffusion of HIT is expected to surge in the next five years. As HIT becomes widespread, it will be a potent source of detailed, population-level health information and provide new insights on how health care is delivered in the U.S. These databases will have significant value for research including genomics, comparative effectiveness studies, health services research, and clinical trials.
The specific aim of this project is to determine what criteria should govern return of individual results of pediatric genomic research, using analysis of US law and international guidelines regarding decision making for and by minors as the foundation. This issue, which has received remarkably little attention, must be resolved if this research, which is vital to understanding the contributions of genetic variation to the health of children, is to proceed.
Recent advances in genomic medicine and genetic testing have increased availability of and access to genetic assessments in both specialty and routine clinical care. Isolation of genetic markers for disease risk among healthy individuals is changing the way in which diseases are detected and defined. Media reports of genetic findings and availability of direct-to-consumer tests may increase both public curiosity and concern.
The goal of this initiative is to develop research ethics leaders in Southeast Asia to meet the emerging research and health system evaluation demands of societies undergoing rapid transition. Ethical behavior in healthcare-related research is a worldwide issue and concern. Currently, there remains no regional capacity to train emerging leaders to identify problems, analyze possible solutions, and apply ethical principles to meet their countries' challenges in research and evaluation.
Exome sequencing (ES) and whole genome sequencing (WGS) are transformative new tools for discovery of genetic risk factors for both rare and common diseases and offer the potential of personalized genetic risk profiling in a single, cost-effective test. Because of the large number of variant results simultaneously identified, the number of results with potential clinical utility-including those that are unanticipated, and the evolving utility of results over time-use of these technologies challenges existing models of returning results to research subjects and patients.
Prenatal genetic services have expanded at an extraordinary pace over the past 4 years with the development of fetal genome sequencing using cell-free placental DNA in maternal serum. Some commentators predict that this new technology, which allows for noninvasive determination of an increasingly wide range of maternal-fetal health conditions, will improve prenatal care, especially in lower-resource areas.