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Last updated: May 22, 2018

Ethical considerations for clinical genomics research

Key considerations:
  • Clinical genomics research has great potential to generate incidental and/or uncertain findings.
  • The shared nature of genetic information means that a participant's findings might have an impact on their family and/or community.
  • An individual’s genetic information could allow for discrimination.
  • Where research generates information of potential importance to future health of participants, their family or communities, researchers must identify relevant ethical considerations and develop an ethically defensible plan (EDP).
  • There is no single “template” for developing an EDP, as each is specific to the context and study plan. The National Statement on Ethical Conduct in Human Research provides a guide to developing an EDP.

Clinical genomics research has the potential to generate information that can have a substantive effect on participants and their families. Researchers have a responsibility to ensure that participants are aware of the risks and potential benefits of a study and that they have made a voluntary decision about participating in the research. 

Why is ethics important in genomic research [1]?
  • Research results may have an impact on family members. Individuals often share gene variants with close relatives.
  • The risk of future health conditions that are unexpected and unrelated to the research purpose may be identified. Genetic information may predict disease.
  • Participants may be identifiable if their data is uploaded to databases that are widely accessible. Even if steps are taken to remove identifiers from samples the nature of genetic information means that this is possible.
  • There is potential for discrimination based on the predictive nature of genetic information. Although individuals may not develop the predicted health condition, knowing their genetic predisposition may have implications for their access to obtaining personal insurance products [2].
  • Genomic research is more likely to give rise to incidental or secondary findings.  A vast amount of genomic data, often complex, may be generated far greater than by traditional targeted genetic approaches [3].
  • There is considerable uncertainty around results, in particular, the level of clinical significance.  Level of understanding of the data is changing and increasing as research evidence increases [1].
  • Obligations for researchers to act on information generated can be unclear [1,3,4]. Increasingly there is a blurring of boundaries between clinical and genomic research activities (researcher may also be the patient's clinician)

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Informed consent

Informed consent is a cornerstone of the ethical conduct of research involving humans [5] and ensures participants are aware of the risks and potential benefits of a study, and that they have made a voluntary decision about participating in the research. In genomic research, however, participants must also be made aware of:

  • Potential for uncertain results,
  • Incidental findings,
  • Potential imapact on the family and community
  • How researchers plan to return these findings.
  • Increasing emergence of large-scale genomic databases that store and share this data pose risks to patient confidentiality and privacy.

Establishing appropriate consent and process of participant interactions is at the forefront of research planning. Standard types of consent are described in the section - Consent and considerations for participants.

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What is an ethically defensible plan?

Researchers must develop an ethically defensible plan (EDP) in instances where the research has the potential to generate genomic information that may impact the future health of a participant, their family or community [6]. An EDP is required to demonstrate that researchers have fully considered the implications of their study on the participants, and planned how they will interact with participants.

An EDP covers all aspects of the study, may be implemented practically and must take the study’s context into account. The EDP must be reviewed by an ethics committee before the research study can commence.

There is no single “template” for developing an EDP, as each is specific to the context and study plan. The National Statement on Ethical Conduct in Human Research is the key guideline for clinical genomics research and provides an outline for developing an EDP and must be consulted before drafting an EDP [2].

An EDP should:

  • Outlines mechanisms and processes for interacting with participants.
  • Identifies how to gain consent (broad, narrow, extended).
  • Considers participants’ needs and rights at all stages of the study, including after the study has ended.
  • Generally includes whether results are reported to participants or not, including incidental findings. This is particularly relevant for studies utilising whole exome and whole genome sequencing.
  • Considers how to share genomic data securely and risks to patient privacy.

Have you thought about?

  • Talking to a clinical review committee when there are questions relating to management of research genomics findings?

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If you have any questions regarding substantive and procedural ethical aspects of your study, consult with your HREC secretariat in the first instance. Also note that there are a number of academic researchers in Australia who specialise in ethical aspects of genetic and genomic research and may have capacity to engage with you further.

Other sections that discuss ethical considerations in this Resource include:


[1] Newson A, Schonstein L. (2016) Genomic Testing I The Paediatric Population: Ethical Considerations in Light of Recent policy Statement. Mol Diagn Ther; 20:407-414.

[2]  The National Statement on Ethical Conduct in Human Research https://www.nhmrc.gov.au/book/chapter-3-5-human-genetics

[3] Souzeau E, Burdon K P, Mackey D A, Hewitt A W, Savarirayan R, Otlowski M, and Craig J E. (2016) Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research.  Translational vision science and technology Vol. 5,1,1-11.

[4] Wolf S, Burke W, and Koenig B. (2015) Mapping the Ethics of Translational Genomics: Situating Return of Results and Navigating the Research-Clinical Divide.J Law Med Ethics; 43(3): 486–501.

[5] McGuire A . (2010) Informed Consent in Genomics and Genetic Research. Annu Rev Genomics Hum Genet. 11: 361–381.