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Cancer Diagnosis Program (CDP) — Biorepositories & Biospecimen Research Branch (BBRB)

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Making Research Possible

Furthering the study of human gene expression and genetic variation.

Background

The goal of GTEx is to study the relationship between genetic variation and gene expression in multiple human tissues. Because the project needed to look at so many different tissues, GTEx collected tissues from deceased donors. GTEx asked permission from families to donate their loved ones’ tissues after death, that is, postmortem, in accordance with all federal, state, and local regulations and NIH guidelines.

GTEx aimed to study genetics in donors with no evidence of disease. The tissue types collected were chosen based on medical significance, logistical feasibility, and relevance to the scientific goals of the project and usefulness to the research community. Postmortem samples were collected from approximately 1000 donors with ages ranging from 21 to 70 years, both men and women. Up to 53 different tissues types were procured from each donor.

The GTEx Ethical, Legal, and
Social Implications Study

As part of the project, GTEx sponsored studies looking at different aspects of the ethical, legal and social implications (ELSI) of GTEx. The ELSI studies included interviews with family decision makers who had been approached to donate their loved one’s tissues, to assess the effectiveness of the consent process in informing the donor families of the potential impacts of participating in the study. Community Advisory Boards were also created to get community input into various issues including how GTEx should talk with families about biospecimen donation. For more information on GTEx and GTEx ELSI-related studies, please see the GTEx ELSI investigator‘s website at Temple University.

The Gift of Donation

The goal of GTEx is to increase our understanding of how changes in genes contribute to common human diseases. This knowledge will work to improve health care for future generations to come, and it‘s the generosity of donors and donor families that make it all possible.

The GTEx project is closed for donation, but for more information, or to find out how you can contribute to current or future NIH donation efforts, please visit Donating Biospecimens.