Topic: Incidental Findings

Overview

During biobanking activities, researchers may encounter unexpected discoveries known as incidental findings. These findings emerge during the course of research but lie beyond the original study scope and aims. With the widespread use of advanced techniques, such as genomic sequencing and imaging, as well as AI, the potential for uncovering incidental findings has increased significantly.

Incidental findings can reveal unanticipated information about a research participant’s health status, carrying profound implications for their health and well-being. This raises complex ethical, legal, and societal issues that must be carefully addressed. Proactive planning for the management of incidental findings is therefore critical.

Incidental findings in biobanks can span various data types, including genomic variations, imaging abnormalities, and biochemical markers. The heterogeneity of these findings, coupled with diverse regulatory frameworks and institutional policies governing biobanking across jurisdictions, means there is no unified approach to their management. Consequently, navigating the intricacies of incidental finding management can pose challenges. To effectively address this, biobanks must develop clear policies and guidelines that encompass the entire life cycle of incidental findings, covering aspects such as informed consent processes, criteria for disclosure, mechanisms for follow-up and referrals, data privacy and confidentiality safeguards, as well as ongoing monitoring and review. These policies should align with ethical principles, legal requirements, and practical considerations. Achieving this requires ongoing interdisciplinary dialogue and collaboration amongst stakeholders to strike an appropriate balance and uphold responsible research practices.

BBMRI-ERIC encourages the biobanking community to proactively explore the available resources on incidental findings, engage in discussions within their respective institutions, and collaborate across disciplines in order to develop robust policies and procedures and consequently be well-prepared to manage these unexpected findings.

Note: Other terms for incidental findings include unsolicited findings; secondary findings; ancillary findings; unintended findings; unanticipated findings; and incidentalomas (an incidental imaging finding)

Key Ethical, Legal and Societal Issues

The key issues that are involved in the management of incidental findings and that should be addressed include:

The Duty to Disclose or Not Disclose

There is an ethical obligation to disclose clinically significant incidental findings that could impact a participant’s health or well-being. Such discoveries can reveal previously undiagnosed medical conditions or particular genetic predispositions. However, this must also be balanced against the principles of autonomy and privacy, allowing participants to exercise their right to determine whether or not they would wish to receive such information. Disclosure could potentially violate an individual’s autonomy and right not to know information they did not consent to receive.

Note: It would also be important to set criteria to determine what qualifies as clinically significant and actionable.

Informed Consent and Participant Preferences

From an ethical perspective, adequate informed consent processes should address the possibility of incidental findings and allow participants to express their preferences for disclosure or non-disclosure. Participants should have the option to opt-out of receiving certain types of findings or specify their disclosure preferences.

Privacy and Confidentiality

Incidental findings may reveal sensitive health or genetic information, which could lead to potential discrimination or stigmatisation. Proper safeguards must be in place to maintain the privacy and confidentiality of such information from both a policy and operational perspective.

Resource Allocation and Costs

Investigating and following up on incidental findings can involve additional resources, such as genetic counselling, confirmatory testing, or even medical interventions. The allocation of resources and responsibility for bearing any associated costs should be carefully considered and addressed.

Legal and Regulatory Implications

Depending on the context, there may be legal obligations or professional guidelines governing the management of incidental findings, such as in clinical trials or genetic testing. Failure to disclose significant findings could potentially lead to legal liability or disciplinary actions.

Relevant EU Legislation

General Data Protection Regulation (GDPR)

The GDPR provides a regulatory framework for lawfully processing personal data, including genetic data and any other health information.  While the GDPR does not directly address the management of incidental findings, it does nevertheless apply upon their discovery, given that incidental findings constitute sensitive personal data.

Note: The EU has not yet enacted any incidental finding-specific legislation. However, other EU legislation nevertheless apply to incidental findings upon discovery. For further relevant EU legislation that may be applicable, please take a look here.

BBMRI Resources

Governance on incidental findings has predominantly developed through Ethics Guidelines, best practice documents, as well as professional recommendations. The below resources have been developed by those included in the BBMRI network:

Webinar: Ethical handling of incidental findings in research

Incidental findings place researchers before an ethical dilemma: disclosing information about incidental findings to participants may be beneficial, but it may also be harmful, and potentially unwanted. This webinar presents a 7-step framework for the responsible handling of incidental findings (BBMRI-NL).

How-to-Guide: Guide to the detection, management and communication of incidental findings for biobanks in BBMRI-NL 

This guide aims to help researchers, biobanks, institutions, and ethics committees develop and evaluate policies for managing incidental findings in biomedical and biobank research. It outlines minimum ethical requirements and describes best practices for detecting, handling, and communicating such findings. (BBMRI-NL, 2017).

External Resources

The below resources have been developed outside of the BBMRI network:

Recommendations for Reporting Results of Diagnostic Genomic Testing (biochemical, cytogenetic and molecular genetic)

by Deans, Z.C., Ahn, J.W., Carreira, I.M. et al.

European Journal of Human Genetics (2022)

Opportunistic Genomic Screening. Recommendations of the European Society of Human Genetics 

by de Wert, G., Dondorp, W., Clarke, A. et al.

European Journal of Human Genetics (2021)

Guidelines for Diagnostic Next-Generation Sequencing 

by Matthijs, G., Souche, E., Alders, M. et al.

European Journal of Human Genetics (2016)

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A Policy statement of the American College of Medical Genetics and Genomics

by Kalia, S. S., Adelman, K., Bale, S. J., et al.

Genetics in Medicine (2016)

Framework on the feedback of health-related findings in research

by the MRC and Wellcome Trust (2014)

This Framework supports researchers in designing and implementing a policy on the feedback of health-related findings to research participants.

Anticipate and Communicate: Ethical Management of Incidental and Secondary Findings in the Clinical, Research and Direct-to-Consumer Contexts (2013) 

by The US Presidential Commission (2013)

This report provides comprehensive ethical guidance on managing incidental and secondary findings across various contexts – clinical practice, research studies, and direct-to-consumer testing, offering ethical frameworks for how to responsibly manage unexpected findings.

 Whole-genome sequencing in Health Care. Recommendations of the European Society of Human Genetics 

by van El, C., Cornel, M., Borry, P. et al.

European Journal of Human Genetics (2013)

American College of Medical Genetics and Genomics (ACMG). Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing

by Green, R. C., Berg, J. S., Grody, W. W.,et al.

Genetics in Medicine (2013)

Genetic Testing in Asymptomatic Minors. Recommendations by the European Society of Human Genetics 

from the European Society of Human Genetics.

European Journal of Human Genetics (2009)

Note: There are notable differences between U.S. and European approaches to the management of incidental findings. As a result, a localised strategy should be adopted when developing policies and guidelines for so that they reflect the specific ethical, regulatory and stakeholder landscapes.

Relevant Literature

A Practical Checklist for Return of Results from Genomic Research in the European context

by D.F. Vears, N. Hallowell, H.B. Bentzen, et al.

European Journal Human Genetics (2023)

German Biobank Alliance/German Biobank Node (GBA/GBN) position on the feedback of incidental findings in biobank-based research: consensus-based workflow for hospital-based biobanks

by Geiger, J., Fuchs, J., Starke, M. et al.

European Journal of Human Genetics (2023)

Responsible Implementation of Expanded Carrier Screening

by Henneman, L., Borry, P., Chokoshvili, D. et al.

European Journal of Human Genetics (2016)

Towards a European consensus for reporting incidental findings during clinical NGS testing

by Hehir-Kwa, J., Claustres, M., Hastings, R. et al.

European Journal of Human Genetics (2015).

Genetic Testing and Common Disorders in a Public Health Framework: How to Assess Relevance and Possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

by Becker, F., van El, C., Ibarreta, D. et al.

European Journal of Human Genetics (2011)

Acknowledgements: This entry benefited from funding from CY-Biobank, a project that has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 857122.

Last Updated: April 2024