GBA/GBN-position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks

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Abstract

Incidental research findings pose a considerable challenge to hospital-based research biobanks since they are acting as intermediaries between healthcare and research. In a joint action the centralized biobank ibdw (Interdisciplinary Bank of Biomaterials and Data Wuerzburg) together with local authorities drafted a coherent concept to manage incidental research findings in full compliance with relevant ethical and data privacy regulations. The concept was developed and elaborated in close collaboration with the German Biobank Alliance (GBA). Comprehensive documentation of all steps guarantees the traceability of the process. By a mandatory assessment of the findings prior to re-identification of the individual concerned, unnecessary measures can be avoided. The individual’s “right not to know” is respected according to the stipulations of the informed consent. As a general principle any communication with the individual occurs exclusively through the hospital and by competent physicians with appropriate knowledge and communication skills. We propose this scheme as a blueprint for reporting workflows for incidental research findings at hospital-based biobanks.

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ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

Robert C Green, Jonathan S Berg, Wayne W Grody … (2013)

In clinical exome and genome sequencing, there is a potential for the recognition and reporting of incidental or secondary findings unrelated to the indication for ordering the sequencing but of medical value for patient care. The American College of Medical Genetics and Genomics (ACMG) recently published a policy statement on clinical sequencing that emphasized the importance of alerting the patient to the possibility of such results in pretest patient discussions, clinical testing, and reporting of results. The ACMG appointed a Working Group on Incidental Findings in Clinical Exome and Genome Sequencing to make recommendations about responsible management of incidental findings when patients undergo exome or genome sequencing. This Working Group conducted a year-long consensus process, including an open forum at the 2012 Annual Meeting and review by outside experts, and produced recommendations that have been approved by the ACMG Board. Specific and detailed recommendations, and the background and rationale for these recommendations, are described herein. The ACMG recommends that laboratories performing clinical sequencing seek and report mutations of the specified classes or types in the genes listed here. This evaluation and reporting should be performed for all clinical germline (constitutional) exome and genome sequencing, including the "normal" of tumor-normal subtractive analyses in all subjects, irrespective of age but excluding fetal samples. We recognize that there are insufficient data on penetrance and clinical utility to fully support these recommendations, and we encourage the creation of an ongoing process for updating these recommendations at least annually as further data are collected.

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Managing incidental findings and research results in genomic research involving biobanks and archived data sets.

Susan M. Wolf, Brittney N. Crock, Brian Van Ness … (2012)

Biobanks and archived data sets collecting samples and data have become crucial engines of genetic and genomic research. Unresolved, however, is what responsibilities biobanks should shoulder to manage incidental findings and individual research results of potential health, reproductive, or personal importance to individual contributors (using "biobank" here to refer both to collections of samples and collections of data). This article reports recommendations from a 2-year project funded by the National Institutes of Health. We analyze the responsibilities involved in managing the return of incidental findings and individual research results in a biobank research system (primary research or collection sites, the biobank itself, and secondary research sites). We suggest that biobanks shoulder significant responsibility for seeing that the biobank research system addresses the return question explicitly. When reidentification of individual contributors is possible, the biobank should work to enable the biobank research system to discharge four core responsibilities to (1) clarify the criteria for evaluating findings and the roster of returnable findings, (2) analyze a particular finding in relation to this, (3) reidentify the individual contributor, and (4) recontact the contributor to offer the finding. We suggest that findings that are analytically valid, reveal an established and substantial risk of a serious health condition, and are clinically actionable should generally be offered to consenting contributors. This article specifies 10 concrete recommendations, addressing new biobanks as well as those already in existence.

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Attitudes of nearly 7000 health professionals, genomic researchers and publics toward the return of incidental results from sequencing research

Anna Middleton, Katherine I. Morley, Eugene Bragin … (2015)

Genome-wide sequencing in a research setting has the potential to reveal health-related information of personal or clinical utility for the study participant. There is increasing pressure to return research findings to participants that may not be related to the project aims, particularly when these could be used to prevent disease. Such secondary, unsolicited or 'incidental findings' (IFs) may be discovered unintentionally when interpreting sequence data, or as the result of a deliberate opportunistic screen. This cross-sectional, web-based survey investigated attitudes of 6944 individuals from 75 countries towards returning IFs from genome research. Participants included four relevant stakeholder groups: 4961 members of the public, 533 genetic health professionals, 843 non-genetic health professionals and 607 genomic researchers who were invited via traditional media, social media and professional e-mail list-serve. Treatability and perceived utility of incidental results were deemed important with 98% of stakeholders personally interested in learning about preventable life-threatening conditions. Although there was a generic interest in receiving genomic information, stakeholders did not expect researchers to opportunistically screen for IFs in a research setting. On many items, genetic health professionals had significantly more conservative views compared with other stakeholders. This finding demonstrates a disconnect between the views of those handling the findings of research and those participating in research. Exploring, evaluating and ultimately addressing this disconnect should form a priority for researchers and clinicians alike. This social sciences study offers the largest dataset, published to date, of attitudes towards issues surrounding the return of IFs from sequencing research.

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Author and article information

Contributors

Joerg Geiger:

ORCID: http://orcid.org/0000-0002-7689-531X

joerg.geiger@uni-wuerzburg.de

Journal

Journal ID (nlm-ta): Eur J Hum Genet

Journal ID (iso-abbrev): Eur J Hum Genet

Title: European Journal of Human Genetics

Publisher: Springer International Publishing (Cham )

ISSN (Print): 1018-4813

ISSN (Electronic): 1476-5438

Publication date (Electronic): 3 February 2023

Publication date PMC-release: 3 February 2023

Publication date (Print): September 2023

Volume: 31

Issue: 9

Pages: 1066-1072

Affiliations

[1 ]GRID grid.411760.5, ISNI 0000 0001 1378 7891, Interdisciplinary Bank of Biomaterials and Data Wuerzburg (ibdw), , University and University Hospital Wuerzburg, ; Wuerzburg, Germany

[2 ]GRID grid.9647.c, ISNI 0000 0004 7669 9786, Leipzig Medical Biobank, , University Leipzig, ; Leipzig, Germany

[3 ]GRID grid.411984.1, ISNI 0000 0001 0482 5331, University Medical Center Goettingen, Central Biobank, UMG, ; Goettingen, Germany

[4 ]GRID grid.275559.9, ISNI 0000 0000 8517 6224, Institute of Clinical Chemistry and Laboratory Diagnostics and Integrated Biobank Jena (IBBJ), , Jena University Hospital, ; Jena, Germany

[5 ]GRID grid.6363.0, ISNI 0000 0001 2218 4662, German Biobank Node, , Charité - Universitätsmedizin Berlin, ; Berlin, Germany

[6 ]Hanover Unified Biobank (HUB), Hanover, Germany

Author information

Joerg Geiger http://orcid.org/0000-0002-7689-531X

Article

Publisher ID: 1299

DOI: 10.1038/s41431-023-01299-8

PMC ID: 10474025

PubMed ID: 36732662

SO-VID: df333a3c-f9a9-4099-aac8-51c4f3053aac

License:

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

History

Date received : 17 October 2022

Date revision received : 12 December 2022

Date accepted : 18 January 2023

Funding

Funded by: FundRef https://doi.org/10.13039/501100002347, Bundesministerium für Bildung und Forschung (Federal Ministry of Education and Research);

Award ID: FKZ 01EY1709

Award ID: FKZ 01ZZ2061N

Award ID: FKZ 01EY1708

Award ID: 16EY2001A

Award ID: 01ZZ2061Y

Award ID: 01EY1712

Award Recipient : Ronny Baber Sara Y. Nussbeck Michael Kiehntopf Cornelia Specht Michael Hummel Roland Jahns

Funded by: FundRef https://doi.org/10.13039/501100001659, Deutsche Forschungsgemeinschaft (German Research Foundation);

Award ID: CRC 1002/INF

Award Recipient : Sara Y. Nussbeck

Funded by: FundRef https://doi.org/10.13039/100011937, Niedersächsische Ministerium für Wissenschaft und Kultur (Lower Saxony Ministry of Science and Culture);

Award ID: COFONI

Award Recipient : Sara Y. Nussbeck