Incidental findings

Table Of Contents

Overview  #

During biobanking activities, researchers may encounter unexpected discoveries about an individual known as incidental findings. These findings emerge during the course of research but lie beyond the original study objectives. With the increasing use of genomic sequencing, advanced imaging, digital health technologies and artificial intelligence, the likelihood of identifying incidental findings has increased significantly. 

Incidental findings may reveal previously unknown information about a participant’s health or genetic predisposition and, in some circumstances, may have important implications for the participant or their biological relatives. Their discovery raises complex ethical, legal and societal questions concerning whether, when and how such information should be communicated. 

There is no universally accepted approach to the management of incidental findings. Approaches differ between countries, research infrastructures and healthcare systems, reflecting differences in national legislation, professional guidance and available clinical services. Consequently, the management of incidental findings should be planned before research begins and incorporated into the governance framework of the biobank. 

Biobanks should establish clear policies covering the entire lifecycle of incidental findings, including: 

  • whether incidental findings will be actively sought or only managed if discovered; 
  • which findings may be considered eligible for return; 
  • the informed consent process and participants’ preferences regarding receipt of findings; 
  • procedures for analytical and clinical validation of research findings before disclosure; 
  • referral pathways for appropriate clinical follow-up, including genetic counselling where appropriate; 
  • roles and responsibilities for decision-making; 
  • compliance with applicable national law, ethical requirements and professional guidance; and 
  • mechanisms for ongoing review as scientific knowledge evolves. 

Developing these policies requires interdisciplinary collaboration between researchers, clinicians, geneticists, ethicists, legal experts and participant representatives to ensure that incidental findings are managed consistently, responsibly and in the best interests of participants.  

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 implications   #

The duty to disclose or not disclose  #

The discovery of an incidental finding does not automatically create a duty to disclose it. Decisions regarding disclosure require careful consideration of ethical principles, participant preferences, scientific validity, clinical utility and applicable legal requirements. 

Where biobanks have adopted a policy of returning incidental findings, disclosure should generally be limited to findings that are analytically valid, clinically significant and actionable, and where appropriate pathways exist for communicating and managing the result. Findings should normally be confirmed through an appropriate clinically accredited laboratory before they are returned to participants. 

The decision whether to disclose must balance several ethical principles, including beneficence, respect for autonomy, non-maleficence and the participant’s right not to know. Indeed, participants must be allowed 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  #

The possibility of discovering incidental findings should be addressed during the informed consent process. Participants should receive clear information about: 

  • whether incidental findings may be returned; 
  • the types of findings that may be returned; 
  • any limitations on the return of results; 
  • whether confirmatory clinical testing will be required; 
  • how findings would be communicated; and 
  • whether they may choose to receive or decline certain categories of findings. 

Where participants are offered a choice, their preferences should be documented and respected wherever legally permissible. However, participants should also be informed that national law or professional guidance may require or restrict disclosure in certain circumstances. 

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. 

Resource allocation and costs  #

The responsible management of incidental findings requires appropriate infrastructure and resources. Returning findings may involve confirmatory laboratory testing, clinical interpretation, communication with participants, genetic counselling and referral into healthcare services. 

Biobanks should consider these resource implications during project planning and clearly define who will be responsible for the costs associated with validation, disclosure and any subsequent clinical referral. Returning findings without adequate support mechanisms may cause unnecessary anxiety or harm to participants.

Legal and regulatory implications  #

The legal obligations relating to incidental findings vary considerably between jurisdictions. Biobanks should ensure that their policies comply with applicable national legislation, professional standards and institutional requirements. 

Before returning any incidental finding, biobanks should ensure that: 

  • the participant has provided appropriate consent, where required; 
  • the finding has undergone appropriate analytical and, where applicable, clinical validation; 
  • appropriate clinical expertise is available to communicate the result; 
  • participants have access to genetic counselling where genomic findings are disclosed; and 
  • disclosure complies with relevant national law and professional guidance. 

Policies should also identify who is responsible for disclosure, how decisions will be documented and how disagreements or exceptional cases will be managed.

Legal and ethical international and EU sources  #

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 applies to incidental findings upon discovery.   

BBMRI-ERIC 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).  

Members from BBMRI-ERIC ELSI team have contributed to the following publications: 

  • Vears DF, Hallowell N, Bentzen HB, Ellul B, Nøst TH, Kerasidou A, Kerr SM, Th Mayrhofer M, Mežinska S, Ormondroyd E, Solberg B, Sand BW, Budin-Ljøsne I.. A practical checklist for return of results from genomic research in the European context. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01328-6 

External resources  #

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  #

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. 

conducting research, consent, data protection, ELSI, ethics, findings, trust
Updated on 25 August, 2026