Human Biological Materials and Genetic Data

Research involving human biological materials, genetic or genomic information, biobanks, or associated identifiable or re-identifiable data must respect the dignity, autonomy, privacy, confidentiality, welfare, and legitimate interests of the persons from whom those materials or data originate.

Human biological materials may include, as applicable, blood, serum, plasma, tissue, cells, DNA, RNA, body fluids, pathological specimens, stored diagnostic material, and other specimens obtained from living or deceased persons that can provide biological or genetic information.

The journal requires such research to comply with the World Medical Association Declaration of Helsinki (2024), applicable ethical and legal requirements, the approved research protocol, and relevant principles of the WMA Declaration of Taipei on Health Databases and Biobanks. The 2024 Declaration of Helsinki expressly applies to research involving identifiable human material or data.

Ethical Review

Research involving identifiable or re-identifiable biological materials or genetic data must undergo appropriate ethical review where required.

The responsible ethics committee should be able to assess, as applicable:

  • the purpose of specimen or data collection;
  • how materials and associated information will be obtained;
  • consent arrangements;
  • proposed analyses;
  • storage conditions and duration;
  • future or secondary uses;
  • privacy and confidentiality safeguards;
  • access and sharing arrangements;
  • transfer to other institutions or jurisdictions;
  • management of incidental or secondary findings;
  • procedures for withdrawal where applicable;
  • risks to participants and biological relatives.

Biobanks and research databases should operate under appropriate ethical governance and oversight. The 2024 Declaration of Helsinki requires research ethics committee approval for the establishment and ongoing use of research databases and biobanks.

Consent for Collection and Use

Where consent is required, participants should receive understandable information about the collection, processing, storage, analysis, sharing, and foreseeable secondary use of their biological materials and associated data.

Consent should address, where relevant:

  • what material will be collected;
  • why it is being collected;
  • the types of analyses anticipated;
  • whether genetic or genomic testing will be performed;
  • how long the material and associated data may be stored;
  • whether future research uses are anticipated;
  • whether materials may be transferred to other researchers or institutions;
  • whether international transfer may occur;
  • whether commercial use is possible;
  • whether participants may be re-contacted;
  • how privacy and confidentiality will be protected;
  • whether individual or incidental findings may be returned;
  • how withdrawal requests will be handled.

Consent must not be described as broader than the information actually provided to participants.

Future and Secondary Use

Previously collected specimens or data may be scientifically valuable for future research, but prior collection does not automatically authorize any subsequent use.

Researchers must determine whether the original consent and ethical approval adequately cover the proposed secondary use.

Where new consent is impossible or impracticable to obtain, the 2024 Declaration of Helsinki provides that secondary research using stored biological material or data may proceed only after appropriate research ethics committee consideration and approval.

Secondary use must also comply with applicable legal, institutional, privacy, and governance requirements.

Biobanks and Research Databases

Biobanks and health research databases should have transparent governance appropriate to the sensitivity, scale, and intended uses of the materials and data they contain.

Governance should address, as applicable:

  • authority and responsibility for the collection;
  • criteria for access;
  • privacy and security;
  • documentation and traceability;
  • conditions for sharing and transfer;
  • consent and withdrawal mechanisms;
  • secondary research;
  • re-contact of participants;
  • return of relevant findings;
  • disposal or destruction of materials;
  • closure or transfer of ownership;
  • complaints and enquiries.

The WMA Declaration of Taipei emphasizes individual control, privacy, confidentiality, governance, security, and appropriate access rules for health databases and biobanks.

Genetic and Genomic Data

Genetic and genomic information requires particular protection because it may remain identifying even when obvious personal identifiers have been removed.

It may also provide information about:

  • biological relatives;
  • inherited disease risk;
  • carrier status;
  • ancestry or familial relationships;
  • susceptibility to future disease;
  • other sensitive biological characteristics.

Researchers must therefore consider risks of re-identification, unauthorized disclosure, discrimination, stigmatization, familial implications, and inappropriate secondary use.

Genetic data should not be considered fully anonymous merely because names or direct identifiers have been removed if re-identification remains reasonably possible.

Pediatric Genetic Research

Research involving genetic information from newborns, infants, children, and adolescents requires additional ethical care.

Researchers and ethics committees should consider:

  • whether testing is scientifically necessary;
  • the child’s best interests;
  • the potential clinical relevance of results during childhood;
  • implications for parents and biological relatives;
  • long-term privacy risks;
  • the child’s future autonomy;
  • whether information could reveal adult-onset risks before the child is able to make an independent decision;
  • whether re-contact or re-consent may become appropriate as the child matures.

Where a child cannot independently provide informed consent, parental or legally authorized representative permission and, where appropriate, the child’s assent must be addressed under the approved protocol.

If a participant later reaches the age or capacity for independent consent while stored identifiable materials or data continue to be used, applicable ethical requirements concerning re-consent should be considered. The Declaration of Taipei calls for reasonable efforts to seek consent when individuals who previously lacked capacity later attain or regain it.

Privacy and Confidentiality

Biological specimens and genetic information must be protected against unauthorized access, disclosure, linkage, transfer, or reuse.

Where coding or pseudonymization is used, the key linking an individual to their specimen or data should be appropriately protected and access restricted.

Researchers should collect and retain direct identifiers only where scientifically or operationally necessary.

The possibility that genomic data may be re-identified through linkage with other datasets should be considered when determining appropriate safeguards.

Detailed requirements are provided in the journal’s Privacy and Confidentiality section.

Sharing and Transfer

The transfer or sharing of biological materials and associated data must have an appropriate ethical, legal, and governance basis.

Before transfer, researchers should determine whether:

  • participant consent permits the proposed use;
  • the ethics approval covers the transfer;
  • the receiving institution has legitimate authority to use the materials;
  • privacy and security protections are adequate;
  • further restrictions are required;
  • a data-use agreement, material transfer agreement, or equivalent arrangement is appropriate.

The Declaration of Taipei specifically recognizes governance arrangements for access and sharing, including the use of Material Transfer Agreements (MTAs) where necessary.

Open-science principles do not require unrestricted public release of identifiable genetic data or sensitive participant-level information.

Return of Results and Incidental Findings

Genetic, genomic, laboratory, or biobank research may produce findings outside the primary research question.

The protocol and consent process should address, where appropriate, whether and under what circumstances:

  • individual research results may be returned;
  • clinically significant incidental findings may be communicated;
  • results require independent confirmation before disclosure;
  • genetic counselling or other professional support is appropriate;
  • participants may choose whether they wish to receive certain information.

Researchers should not promise return of results that the study is not designed, validated, or authorized to provide.

The WMA Declaration of Taipei identifies procedures for returning results, including incidental findings, as a matter that should be addressed when participants consent to multiple or indefinite uses of biobank data or material.

Withdrawal

Where applicable, participants should be informed about whether and how they may withdraw permission for future use of identifiable biological materials or associated data.

Any limitations on withdrawal should be explained transparently. For example, withdrawal may no longer be technically possible for material or data that have been irreversibly anonymized, consumed in analysis, transferred under a valid prior authorization, or incorporated into completed analyses where applicable requirements permit continued use.

The Declaration of Taipei recognizes the right to alter consent or request withdrawal of identifiable data and biological material from future use, subject to the applicable framework.

Reporting in the Manuscript

Authors reporting research involving human biological materials or genetic data should state, as applicable:

  • the source and nature of the specimens or data;
  • ethics committee approval, exemption, or other relevant determination;
  • the consent arrangements;
  • whether materials were prospectively collected or previously stored;
  • whether secondary use was approved;
  • relevant procedures for coding or de-identification;
  • significant biobank or repository information where necessary for reproducibility and ethical transparency.

Authors should not imply that specimens were ethically obtained or used if appropriate documentation cannot support that statement.

Journal Verification

The journal may request relevant documentation when ethical concerns arise, including ethics approvals, consent materials, biobank governance information, documentation of secondary-use authorization, or evidence concerning access and transfer arrangements.

The journal will avoid requesting participant-identifying genetic or biological information unless strictly necessary for legitimate ethical verification.

ICMJE’s current Recommendations, updated in January 2026, require human research to follow the 2024 Declaration of Helsinki and permit editors to independently assess whether the conduct of research was ethically appropriate.

Unauthorized use of biological specimens, fabrication of consent or ethics documentation, misuse of genetic data, serious breaches of confidentiality, or deliberate misrepresentation of the provenance or permitted use of human materials may result in rejection or action under the journal’s Research Misconduct, Editorial Actions, and Corrections and Retractions policies.

ISSN 2181-3353 (Print)
ISSN 2181-3353 (Online)