TGR requires access to large collections of DNA specimens. Repositories made up of samples collected specifically for TGR may not be sufficient to meet growing demand, especially for large cohort studies aimed at untangling the contributions of genetic variants and environmental exposures to disease. In response, many scientists rely on blood and tissue samples from non-research settings or obtained through mechanisms constructed primarily to collect samples for non-research purposes. Traditionally, these types of specimen collections have included pathology samples or other leftover materials from clinical procedures;today, however, researchers have also become Interested in utilizing samples from other non-research settings, including public health programs and the organ and tissue procurement system. The ethical challenges of Genomic research from """"""""traditional"""""""" sources, such as pathology specimens, surgical discards, and samples donated specifically for genomic research, have been well explored and reported [(100-117)] Two sets of discussions that have received some attention and serve as background to our work are;1. discussions about how to go out and solicit samples prospectively for new dedicated genomic research biobanks;2. discussions about whether and how to use pathological specimens that were not initially collected with genomic research in mind. The ethical challenges raised by the use of these specimens include problems of privacy, confidentiality, control of future use of donated tissues, and whether donors should share in any financial profit from the research.[(106,108,118-121)] Vulnerable stakeholders include the sources of tissue (living or dead persons) as well as;family members who donate the tissue of loved ones who are deceased or otherwise unable to consent (e.g., minors and persons with dementia);family members who may be affected in a variety of ways by the research results;members of larger communities to which the source of the tissue belongs. There have been a number of recent studies of the attitudes and beliefs of some of these stakeholders regarding the storage and use of biological specimens for research purposes. Findings from these studies have indicated varying levels of concern about privacy, confidentiality, consent and the control of samples, and the disclosure of research results.[(85,122-126)] Nevertheless, a robust and sometimes complicated informed consent process has often been seen as one way to protect the autonomy and best interests of these groups. Careful anonymization or delinking of tissue from its source is another. Genetic information can be especially harmful as it may affect insurability and employment, reveal unwanted information about the future health status of individuals, offer false hope of cure, and cause stigmatization in the community or among communities. In these ways, some believe that genetic information has the potential to be more harmful than other information obtained through research and thus requires special consideration?hence the term, genetic exceptionalism. These problems have been thoroughly discussed in the literature and in the form of government reports.[100,114,127-134)] This project will initially focus on four new types of """"""""non-research"""""""" biospecimens that are beginning to be used in TGR. The four cases we plan to study include;1) the National Institute of Health's new GTEx Project, which proposes the collection of tissues from recently deceased individuals donated primarily for human transplantation or obtained by coroners in rapid autopsies;2) umbilical cord blood donated for storage in public banks for potential transplant and/or medical research;3) use of stored residual bloodspots from newborn screening programs;4) frozen embryos originally collected for in vitro fertilization (IVF) purposes. The new sources that we seek to examine raise the general ethical challenges already raised by genomic research and documented above. In addition, there are specific ethical challenges raised when genomic research seeks its raw material from sources and settings that have evolved over years;1) to serve purposes other than research: 2) for research other than genomic research. In these new settings, many of the stakeholders are different from the historic ones, as are their missions, organizational frameworks, relationships to other stakeholders, financial arrangements, and legal and regulatory constraints.

National Institute of Health (NIH)
National Human Genome Research Institute (NHGRI)
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Special Emphasis Panel (ZHG1-HGR-P)
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Case Western Reserve University
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