The Clinical Sequencing Exploratory Research (CSER) and Return of Results Consortium (RoRC) programs are designed to investigate critical questions about the application of genomic sequencing to clinical care of individual patients, from generation of genomic sequence data, to interpretation and translation of the data for the physician, to communication to the patient, including an examination of the ethical and psychosocial implications of bringing broad genomic data into the clinic.
The purpose of this study is to provide empirical data on effects of intellectual property (IP) and commercialization on clinical translation of noninvasive prenatal genetic testing (NIPT) and identify potential barriers to clinical adoption and patient access. Advances in technologies for genetic analysis of cell-free fetal DNA could make NIPT routine. Early clinical trials indicate that sequencing-based NIPT tests for chromosomal aneuploidies are more accurate than currently used noninvasive screening tests.
The University of Utah Center for Excellence in ELSI Research (UCEER) will conduct strategic planning for ELSI research, training and mentoring, and conduct two pilot projects. The focus of the UCEER will be population screening for genetic conditions in the health care of women and children. Our specific focus will be prenatal genetic screening and newborn screening. We will build on our strengths and experience to develop a collaborative, transdisciplinary center for research and training in ELSI issues.
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.
Recent progress in genomic science has been accompanied by great expectations that we are on the verge of a medical revolution where genetic knowledge of the complex interaction between multiple genes and the environmental/behavioral factors impacting their expression, will redefine illness and health, guiding risk prediction, disease diagnosis and treatment strategies. As yet, with a few notable exceptions, the promise of genetically driven diagnoses and treatment remains largely theoretical.
This application seeks to better understand the needs of patients undergoing genomic testing with respect to the understanding of an adaptation to genomic information through genomic counseling. Through an existing partnership between the Ohio State University Medical Center and the Coriell Institute's Personalized Medicine Collaborative, over 5000 participants have been enrolled in two studies aimed at evaluating the utility of personalized medicine.
Rapid advances in human genetics have prompted concerns about the public's readiness to process and utilize the knowledge gained to make informed decisions about their health. To facilitate "genetic literacy," several government agencies including the Office of the Surgeon General and the Centers for Disease Control and Prevention (CDC) have advocated for the increased use of family health history assessment. The family health history, currently underutilized in primary care, offers an ideal proxy to assess genomic risk and is the simplest applied genomic tool available.
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.
In recent years, researchers from around the world have begun developing repositories of tissues and socio-demographic data for genetics and other biomedical research. These biobanks, often linked with patient health care records, have been an invaluable resource in helping to understand cancer, diabetes, and various genetic-related disorders. The specimens and data are especially valuable when combined and analyzed with specimens and data from other countries, because rare variations can be detected and examined.
Genomics-based technologies are increasingly used in clinical care and are highly relevant to public health because of their potential use in assessing risk, diagnosing, and developing treatment plans. Access to genomic tests often depends on cost and coverage of services by the health plan. No studies, to our knowledge, identify whether access and reimbursement issues relating to guideline-recommended pharmacogenomic tests exist, and what the potential implications of barriers to access and/or differential access for patients, providers, and society are.