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Last updated: May 15, 2018

Consent

Informed consent is the cornerstone of the ethical conduct of research involving humans [1]. Participants must be made aware of the risks and potential benefits and they need to have made a voluntary decision to participate in the research. In genomics research, participants must be made aware that there is potential for:

  • Uncertainty of results
  • Incidental findings
  • Family and community impact
  • Sharing and storing of their data in large-scale genomic databases

Establishing appropriate consent and processes for participant interactions needs to be at the forefront of research planning.

How important are consent processes in genomic research?

Development and implementation of appropriate consent is critical to conducting clinical genomics research. Appropriate consent helps ensure ethical challenges in genomic research are discussed and that participants are aware of the impact it may have on them, their family and community.

Genomic technologies have made participation in genetic research more complex and will continue to do so as the volume of data increases. The complexity and open-endedness of genomic results also increase the challenges. From the outset, researchers will need to try to ascertain:

  • What limitations to put on results and return of results in an open-ended field
  • Whether pre-participation counselling is required
  • Future uses or sharing of sample or data 

The process of communicating information to participants and seeking their consent involves more than a formal requirement. Where projects are complex or long running, or participants are vulnerable, consent may need to be renegotiated or reconfirmed [2].

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What is the model for consent that will suit the needs of your study?

Standard approaches to informed consent (defined below) may be appropriate for some studies but are not likely to be effective in all genomic research. Different models of consent are needed to ensure that participants' decisions are informed and meaningful [3]. 

Types of consent as per National Statement on Ethical Conduct in Human Research, Section 2.2.14 include [2]: 

  • Specific consent – limited to the specific project under consideration
  • Extended consent- given for the use of data or in future research projects that are:
    • an extension or closely related to the original project
    • in the same general area of research
  • Unspecified consent - given for the use of data in any future research. Extended or unspecified consent may need to include permission to enter the original data into a databank. Terms should be clearly recorded. 

Broad consent – consent for an unspecified range of future research but subject to content and/or process restrictions placing more limitations than unspecified consent [4]. It has also been reported to meet some of the challenges of current biomedical research including the future use of biospecimens. The research potential for extended, broad and unspecified consent approaches may provide considerable potential for promoting health and benefiting society.

For some projects, dynamic consent may be appropriate. Dynamic Consent is a term used to describe personalised consent and communication strategies to ensure participants are appropriately informed and their values and personal preferences are respected. It aims to facilitate the consent process and enable ongoing communication between researchers and research participants and may involve different types of consent depending on the study design [6].

Family privacy and confidentiality is critical, with the National Statement on Ethical Conduct in Human Research (3.5.8) requiring researchers to inform participants regarding [2]: 

  • Privacy and confidentiality of their information with respect to family members and others
  • Family members may sometimes be asked for information to aid genetic research
  • Genetic research may reveal information that has health implications for relatives
  • If family members are identified as at risk, they may be approached even if research participant does not consent

If the use of identifiable data and samples requires informed consent, it is important to think about whether consent is robust enough to withstand the more complex ethical challenges that evolving technology brings today and in the future. Big data and data linkage bring research opportunities that may be hindered by obtaining fully informed consent in all instances (particularly if used in the context of routinely collected clinical data). There may be ways to approach consent that protect participant desires for contact and recontact by researchers, as well as respecting wishes to provide broad or unspecified consent.  Uptake is likely to vary depending on the model of informed consent used. It is also important to consider the feasibility of offering different models for obtaining informed consent and returning results for your study.

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Plain language statements

Plain language statements (Participant Information Sheets) need to accompany consent for all participants to ensure participants understand the research. Writing a lay description not only involves simplifying the language but also using language that will communicate the concepts effectively, such as:

  • Purpose of the study
  • What the study will involve
  • How long will the study and participation be
  • How to withdraw (if needed)
  • Privacy and confidentiality measures in place.

A patient information booklet with further information may also be necessary. The NSW Health patient information booklet for genomic testing in the clinical setting provides clear lay descriptions of genomic testing and possible results.

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Other considerations for participants: 


[1] McGuire A, Informed Consent in Genomics and Genetic Research. Annu Rev Genomics Hum Genet. 2010 Sep 22; 11: 361–381.

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

[3] NIH Informed Consent for Genomics Research, https://www.genome.gov/27026588/informed-consent-for-genomics-research/)

[4] Newson, A (2016) ‘Ethical aspects of genetic and genomic research’ [Slide Deck]. Sydney Health Ethics: University of Sydney.

[5] Grady C, Eckstein L, Berkman B, Brock D, Cook-Deegan R, Fullerton S M, Wendler, D. et al. (2015) Broad consent for research with Biological samples: Workshop conclusions. Am J Bioeth; 15(9);34-

[6] Budin-Ljosne I, Teare H J A, Kaye J, Beck S, Bentzen H B, Caenazzo L, Collett C, Felzmann H, Finlay T, Javaid M K, Jones E, and Katic V, Simpson A, and Mascalzoni D. Dynamic Consent: a potential solution to some of the challenges of modern biomedical research. (2017) BMC Medical Ethics 18:4