National Institutes of Health Clinical Center

Research

Ethics of Genetics and Emerging Technologies

Faculty:

The Department's genetics-focused projects examine a broad range of clinical- and research-related ethical and policy issues in genetics, including:

Research with collections of human biological samples and data:
Collections of human biological samples and associated data, including those collected in both clinical and research settings, are an important research resource. Efforts to create and maintain increasingly larger-scale and scope collections of samples and data as well as policies to promote broad data sharing raise a number of ethical issues related to e.g., privacy and confidentiality protections; the scope and depth of informed consent; permissible ongoing uses; and potential obligations to disclose downstream research findings.

Genetic, genomic, and stem cell research incorporating other emerging technologies:
The availability of new technologies such as large-scale whole exome and genome ("next generation") sequencing, and the ability to create human induced pluripotent stem cells (iPSCs), is expanding rapidly, bringing with it a need to reexamine the ethical issues associated with genetic and genomic research using these tools. The ethical concerns previously associated with targeted genetic research (such as informed consent, stigma, discrimination and privacy) are amplified by the volume and types of information now being generated by large-scale genomic sequencing. Ethical concerns that had been rare now are becoming more prevalent and more complex, and institutional review boards are often called upon to review the ethics of research involving the use of these emergent, cutting edge technologies in research with human subjects prior to the development of consensus and ethical guidance about the use of these technologies.

Disclosure of genetic results to study participants and clinical patients:
Genomic research with human subjects raises complicated questions about the management of incidental or secondary findingsincluding a determination of how, to whom, and under what circumstances to return results. Questions about the disclosure of results become more complicated as the number of results generated increases, which is precisely what is expected as whole exome and genome sequencing (WES/WGS) technologies begin to replace targeted genetic research techniques. As new genetic sequencing technologies move from a research context to the applied medical setting, it will also be important to reexamine the way that results are returned to patients in clinical settings.

Characterizing and addressing individual and group risks associated with genetic and genomic information:
The research ethics literature is rich with discussion about the theoretical risks of individual and group harms that can flow from inappropriate generation and dissemination of genetic information. This literature, however, is generally grounded in assumptions and speculation; there is little empirical study of the character, frequency, and magnitude of the direct individual and group harms that flow from genetic information. We are planning to perform a robust examination of these issues to inform the development of appropriate guidance and regulation.

Full Description (circa 2010) PDF Icon (77 KB)


NOTE: PDF documents require the free Adobe Reader.