PROJECT NARRATIVE The proposed K01 Award?'Evaluating the Risks and Benefits of the Next Generation of Direct-to-Consumer Genetic Tests??will enable the candidate to acquire the academic background, research experience, and professional skills to become an independent ELSI investigator exploring the risks and benefits of current and emerging direct-to-consumer (DTC) genetic tests.
This Pathway to Independence Award (K99/R00) will prepare the candidate to become an interdisciplinary ELSI researcher conducting high-impact, independently funded research exploring the impact of genetic and other biological explanations for addictions and other psychiatric disorders on attitudes and beliefs about health and identity. The research will examine how genetic attributions for addiction relate to beliefs about individual agency and treatment effectiveness among people with addictive disorders and clinicians who treat them.
Modern genetic research gives us unprecedented ability to understand and manipulate fundamental biological processes. Our growing potential to understand and shape the world in genetic terms also seriously challenges basic beliefs and ethical norms. At the same time, values and norms affect the way genetic research is designed and conducted. Despite the significant ethical and societal implications of emerging genetic research, there are few venues for geneticists to participate in interdisciplinary research and to discuss these issues.
One of the projected health dividends of the Human Genome Project is the use of personalized multi-gene testing to identify individual susceptibilities, so that individuals can undertake preventive courses of action. Among other things, for this to be successful medical personnel must be able to convey this information without creating fatalism and in ways that are comprehensible and believable to lay people.
The ELSI program of the Human Genome Project has successfully calmed the fears of most constituents regarding the potential for a "eugenic" misuse of modern genetic technology. However, one constituency still has major fears regarding the HGP and eugenics. This is the disability rights (DR) community. DR critiques of the HGP are based on a distinct concept of disability from that of mainstream medicine including most supporters of the HGP.
This is a competing renewal to continue our investigations of the use of molecular cytogenetic testing by array copy number analysis in prenatal diagnostic testing. We have completed a prospective blinded comparison of copy number analysis (aCNA) with standard conventional karyotyping in 4400 unselected prenatal diagnostic tests. Our work demonstrates that aCNA identifies all pathologic findings seen by karyotyping and provides significant incremental information in 2% of all patients tested.
How do ordinary Americans make sense of genetic research? How might they decide whether or not to participate in such research? The proposed study aims to address these questions, in a two-year panel study unfolding in three broad phases:
-an initial, general-population baseline survey of relevant knowledge, attitudes and opinions;
Advances stemming from the Human Genome Project have prompted concerns about the general public's readiness to utilize this information to make informed health decisions. As a strategy to increase genetic literacy among the general public, tools are now available to enable individuals to record their family health history. However, little is known about whether the public is able to access the tools, understand how to use them, and apply the information by taking health protective actions, which can compromise the potential effectiveness of the tools.
The overall aim of the Center for Genomics and Society (CGS) renewal plan is to carry out an integrated set of transdisciplinary research, training, and policy activities addressing ethical, legal and social Issues involved in the application of genomics to the general public. Genomic testing is already being offered to the general public in an unstudied way by direct-to-consumer companies and through other venues and the use of DNA sequencing to screen populations for preventable health risks is being discussed.
Pharmacogenetic testing is considered one of the most promising clinical applications arising from genomics research, with the potential to reduce adverse drug responses and improve efficacy of drug treatment. Because pharmacogenetic tests address a specific question about drug therapy, they have generally been viewed as having fewer ethical and social implications than other types of genetic testing. Yet some policy concerns will need to be addressed before pharmacogenetic tests can be introduced appropriately into clinical practice.