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Development of a consensus approach for return of pathology incidental findings in the Genotype-Tissue Expression (GTEx) project
  1. Nicole C Lockhart1,
  2. Carol J Weil2,
  3. Latarsha J Carithers3,
  4. Susan E Koester4,
  5. A Roger Little5,
  6. Simona Volpi6,
  7. Helen M Moore2,
  8. Benjamin E Berkman7
  1. 1 Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Rockville, Maryland, USA
  2. 2 Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
  3. 3 Division of Extramural Activities, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA
  4. 4 Division of Neuroscience and Basic Behavioral Science, National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
  5. 5 Division of Neuroscience and Behavior, National Institute on Drug Abuse, National Institutes of Health, Rockville, Maryland, USA
  6. 6 Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  7. 7 Department of Bioethics, National Institutes of Health Bioethics Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA
  1. Correspondence to Dr Nicole C Lockhart, Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Rockville, MD 20892, USA; lockhani{at}mail.nih.gov

Abstract

The active debate about the return of incidental or secondary findings in research has primarily focused on return to research participants, or in some cases, family members. Particular attention has been paid to return of genomic findings. Yet, research may generate other types of findings that warrant consideration for return, including findings related to the pathology of donated biospecimens. In the case of deceased biospecimen donors who are also organ and/or tissue transplant donors, pathology incidental findings may be relevant not to family members, but to potential organ or tissue transplant recipients. This paper will describe the ethical implications of pathology incidental findings in the Genotype-Tissue Expression (GTEx) project, the process for developing a consensus approach as to if/when such findings should be returned, possible implications for other research projects collecting postmortem tissues and how the scenario encountered in GTEx fits into the larger return of results/incidental findings debate.

  • donation/procurement of organs/tissues
  • clinical ethics
  • human tissue
  • pathology
  • research ethics
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Footnotes

  • Contributors BEB conducted the bioethics consult described in this manuscript. NCL, CJW, LJC, SEK, ARL, SV, and HMM participated in the development of the approach to pathology incidental findings described herein. The initial draft of the manuscript was produced by NCL, CJW and BEB with significant contributions from all authors.

  • Funding This research was supported in part by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. This work was supported by the following grants and contracts from the United States National Institutes of Health: contract HHSN261200800001E (Leidos Prime contract with NCI) and contracts 10XS170 (NDRI), 10XS171 (Roswell), 10X172 (Science Care).

  • Disclaimer The opinions expressed in this paper are the authors’ own and do not represent the official views of the National Human Genome Research Institute, the National Cancer Institute, the National Institute of Dental and Craniofacial Research, the National Institute of Mental Health, the National Institute on Drug Abuse, the National Institutes of Health or the Department of Health and Human Services.

  • Competing interests None declared.

  • Ethics approval This research was reviewed by the University of Pennsylvania Institutional Review Board and the Roswell Park Cancer Institute Review Board. In the USA, deceased individuals are not considered human subjects. However, since the GTEx project involved significant genomic analysis, project-specific authorisation was received from the next-of-kin of all deceased donors. All sites collecting biospecimens as part of the GTEx project were required to submit a research protocol to their institutional review board (IRB). Some collection site IRBs chose to undergo full or expedited review, while others determined the research did not constitute human subjects research and did not require further review.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement All clinical and molecular data from the GTEx project are available at either the GTEx Portal https://www.gtexportal.org/home/ or the NIH database of Genotypes and Phenotypes (dbGaP) https://www.ncbi.nlm.nih.gov/gap. Histological images are available at https://brd.nci.nih.gov/brd/image-search/searchhome. Standard Operating Procedures for the program including pathology operations are available at https://biospecimens.cancer.gov/resources/sops/default.asp.

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