Biomedical research involving humans generates results that fall on a continuum of potential interest to participants. Some results, such as blood pressure, have obvious clinical utility, and elevated blood pressure is actionable by taking blood pressure medication. At the other end of the continuum, results from research on the genetics of complex diseases holds great promise for future clinical management; however the results are not immediately actionable and may only be of scientific interest.
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 Advancing Research Ethics training in Southern Africa (ARESA) program will promote responsible research in southern Africa by offering a postgraduate Diploma/Masters level educational program to health care and other professionals in research ethics and by developing a national network for Research Ethics Committee (REC) members.
Two major forces in clinical medicine on the horizon are expected to change the paradigm of clinical care. One is personalized genomic medicine (PGM), which seeks to harness knowledge about the genetic endowment of the individual to individually tailor specific medical therapies. The second driving force in healthcare today is to conduct comparative effectiveness research (CER) to directly compare the effectiveness, and sometimes the cost, of alternative therapies or diagnostic modalities for the same disease or condition.
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.
Personal genetic and genomic information is becoming more widely available and affordable, generating increased discussions on the merits and dangers of direct-to-consumer (DTC) genetic testing and appropriateness of using personal genetic information in various contexts (e.g. clinics, research laboratories, courtrooms, and classrooms). While attention has focused predominately on health-related testing, conversations about DTC genetic ancestry testing and information are intensifying as well.
The objective of this training and research project is to develop the candidate into an independent and interdisciplinary ELSI researcher, with the ability to intertwine qualitative empirical with normative approaches to issues in genetics and genomics.
Innovations in next-generation DNA sequencing technologies, accompanied by exponential drops in cost, have made it possible for clinicians to begin to use whole genome sequencing (WGS) to diagnose, treat, and predict disease. The extent to which WGS will improve health outcomes on a population level, however, will depend on effective oversight of its commercialization and use.
New technologies are enabling the arrival of the much awaited affordable genome the ability to sequence an individuals or a tumors entire genome quickly and inexpensively [whole genome sequencing (WGS)]. WGS is now being offered in clinical care and is expected to become more widely used in the near future, particularly in cancer. However, this technological advance threatens to outpace our ability to use it effectively in clinical practice and to address the associated health policy issues.