ABSTRACT
CONTEXT.: The National Institutes of Health Genotype-Tissue Expression (GTEx) project was developed to elucidate how genetic variation influences gene expression in multiple normal tissues procured from postmortem donors. OBJECTIVE.: To provide critical insight into a biospecimen's suitability for subsequent analysis, each biospecimen underwent quality assessment measures that included evaluation for underlying disease and potential effects introduced by preanalytic factors. DESIGN.: Electronic images of each tissue collected from nearly 1000 postmortem donors were evaluated by board-certified pathologists for the extent of autolysis, tissue purity, and the type and abundance of any extraneous tissue. Tissue-specific differences in the severity of autolysis and RNA integrity were evaluated, as were potential relationships between these markers and the duration of postmortem interval and rapidity of death. RESULTS.: Tissue-specific challenges in the procurement and preservation of the nearly 30 000 tissue specimens collected during the GTEx project are summarized. Differences in the degree of autolysis and RNA integrity number were observed among the 40 tissue types evaluated, and tissue-specific susceptibilities to the duration of postmortem interval and rapidity of death were observed. CONCLUSIONS.: Ninety-five percent of tissues were of sufficient quality to support RNA sequencing analysis. Biospecimens, annotated whole slide images, de-identified clinical data, and genomic data generated for GTEx represent a high-quality and comprehensive resource for the scientific community that has contributed to its use in approximately 1695 articles. Biospecimens and data collected under the GTEx project are available via the GTEx portal and authorized access to the Database of Genotypes and Phenotypes; procedures and whole slide images are available from the National Cancer Institute.
ABSTRACT
CONTEXT.: The National Institutes of Health (NIH) Genotype-Tissue Expression (GTEx) project was designed to evaluate how genetic variation and epigenetic effects influence gene expression in normal tissue. OBJECTIVE.: To ensure that the grossly normal-appearing tissues collected were free from disease, each specimen underwent histologic evaluation. DESIGN.: In total, nearly 30 000 tissue aliquots collected from almost 1000 postmortem donors underwent histologic review by project pathologists, and detailed observations of any abnormalities or lesions present were recorded. RESULTS.: Despite sampling of normal-appearing tissue, in-depth review revealed incidental findings among GTEx samples that included neoplastic, autoimmune, and genetic conditions; the incidence of some of these conditions among GTEx donors differed from those previously reported for other populations. A number of age-related abnormalities observed during histologic review of tissue specimens are also described. CONCLUSIONS.: Histologic findings from the GTEx project may serve to improve populational awareness of several conditions and present a unique opportunity for others to explore age- and gender-influenced conditions. Resources from the study, including histologic image and sequencing data, are publicly available for research.
ABSTRACT
BACKGROUND: Researchers and other key stakeholders in biobanking often do not have a thorough understanding of the true costs and challenges associated with initiating, running, and maintaining a biobank. The National Cancer Institute's Biorepositories and Biospecimen Research Branch (BBRB) commissioned the Biobanking Financial Sustainability survey to better understand the challenges that biobanks face in supporting ongoing operations. A series of interviews with biobanking managers and an international focus group session informed the content of the survey. METHODS: The design of the survey included five main sections, each containing questions related to primary topics as follows: general demographics, operations, funding sources, costs, and financial challenges. While the survey focused on financial issues and challenges, it also explored staffing and strategic planning as these issues relate to the sustainability of operations and financial support. U.S. and international biobanks were included in the survey. RESULTS: Biobanks in general are dependent on public funding and most biobanks do not have formal plans for the long-term stewardship of their collections. Respondents are working at a critical level of personnel and are not in a position to further reduce staffing. Smaller biobanks in particular need assistance in defining reasonable cost recovery user fees for biospecimens and related services. CONCLUSIONS: The survey results highlight several issues that are important for long-term biobank sustainability. It is critical to prepare for such issues as effective biobanking practices have increasingly been recognized as a key component for the advancement of precision medicine.
Subject(s)
Biological Specimen Banks/economics , Biomedical Research/economics , Financial Support , Humans , National Cancer Institute (U.S.) , United StatesABSTRACT
BACKGROUND: Biobanks and biospecimen collections are becoming a primary means of delivering personalized diagnostics and tailoring individualized therapeutics. This shift towards precision medicine (PM) requires interactions among a variety of stakeholders, including the public, patients, healthcare providers, government, and donors. Very few studies have investigated the role of healthcare students in biobanking and biospecimen donations. The main aims of this study were (1) to evaluate the knowledge of senior healthcare students about biobanks and (2) to assess the students' willingness to donate biospecimens and the factors influencing their attitudes. METHODS: A cross-sectional study was conducted among senior healthcare students at King Abdulaziz University (KAU), Saudi Arabia. The data were obtained using a self-administered questionnaire in English. In addition to the respondents' biographical data section, the questionnaire assessed the respondents' general knowledge about biobanking, the factors influencing their willingness to donate biospecimens to biobanks and their general attitudes towards biomedical research. RESULTS: A total of 597 senior healthcare students were included in the study. The general knowledge score was 3.2 (±1.6) out of 7. Only approximately 44% and 27% of students were aware of the terms "Human Genome Project" (HGP) and "biobank," respectively. The majority of the students (89%) were willing to donate biospecimens to biobanks. Multiple factors were significantly associated with their willingness to donate, including their perceived general health (p < 0.001), past experience with both tissue testing (p < 0.04) and tissue donation (p < 0.001), biobanking knowledge score (p < 0.001) and biomedical research attitude score (p < 0.001). The main reasons for students' willingness to donate were advancement of medical research and societal benefits, whereas misuse of biospecimens and confidentiality breaches were the main reasons for a reluctance to donate. CONCLUSION: Despite their strong willingness to donate biospecimens, students exhibited a notable lack of knowledge about biobanking and the HGP. To expedite the transition towards PM, it is highly recommended to enhance healthcare curricula by including more educational and awareness programmes to familiarize students with OMICs technologies in addition to the scope of research and clinical applications.
