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.
Harvesting the benefits of genomics requires a new kind of transdisciplinary cooperation. Over the next three years, we will create the Center for Transdisciplinary ELSI Research in Translational Genomics (CT2G) to address key ELSI questions in translational research. The proposed Center brings together the unique resources of Kaiser Permanente Northern California (KPNC), including its Division of Research, and the University of California, San Francisco (UCSF), including the Hastings College of the Law Consortium on Law, Science & Health Policy.
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.
With the growing importance of biobank research, concerns have been raised about how to protect the interests of donors. The current ethics framework mainly focuses on protecting against risks to donors' welfare and to their privacy. However, there has been little systematic empirical, normative, or policy focus on the non-welfare interests of donors, i.e., concerns about the moral, societal, or religious implications of research using their donation that may affect their willingness to donate.
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.
Assignment of individuals to categories of race, ethnicity and ancestry impacts health and public policy, yet the practice remains both scientifically and culturally controversial. The established means of determining race and ethnicity, as commonly used for census and health questionnaires, is self-identification. However data is accumulating from social science research showing that an individual's reported ancestry is dependent on social and cultural context. At the same time, modern genetic studies have identified robust markers of ancestry.
Interactive Multimedia Consent for Biobanking Abstract Many biobanks in the U.S. consent thousands of contributors of biospecimens and health information. There is growing interest in the efficiency of electronic consenting (e-consent) given the scale of these efforts. However, e-consent tools also need to promote diverse users' understanding and trust, and demonstrate their effectiveness in comparison to traditional methods such as face-to-face (F2F) consenting.
Advances in psychiatric genetics are likely to offer major diagnostic and therapeutic benefits, but also legal and social-related risks, to individuals who were diagnosed with, or have a proclivity for, psychiatric disorders. In response, courts and policy-makers will have to ensure that psychiatric genetic data are used to promote, and not to obstruct, equality, justice, and social inclusion.
Non-invasive prenatal testing (NIPT), a cell-free DNA screening test of fetal chromosomal abnormalities using maternal plasma, has been heralded as ?revolutionizing prenatal screening and diagnosis. Introduced commercially in late 2011, the rapid clinical adoption of NIPT highlights genomic medicine?s growth and enormous promise for patient care. The research landscape stemming from genomic and precision medicine endeavors, however, necessitates concomitant efforts to monitor population health impact and assure equity in access to these advances.