Last updated: May 22, 2018

Returning results

Researchers have an obligation to act responsibly and ethically when returning participants’ results and need to taking into account the analytical validity, medical significance and utility, and participants’ rights and wants (including any informed refusals of information). It is also important to note that research is not clinical care and returning research results should not be a substituted for appropriate clinical care and advice.

In clinical care, results are usually reported as possible outcomes of the genetic test where individual patient needs and benefits prevail. However, in clinical genomics research, these lines become blurred especially when research participants are patients and the researcher is the clinician as the results generally have not been clinically validated.

Researchers might also use other criteria to assess if the variant should be returned including clinical utility and actionability and the overall purpose of the research.

Returning results

The appropriate model for returning results to participants in clinical genomic research presents a number of ethical considerations [1] [2]. Generally, there is no “one size fits all” process and there are a number of reported models in the literature.

Broadly the return of results falls into:

  • Return of pertinent results (primary findings) of the study including variants of unknown or uncertain significance (VUS)
  • Return of incidental and secondary findings

Guidelines recognize that the participants' preferences need to be taken into account and that participants need to be able to decide whether they wish to receive the information, who else may be given it and opt out of having their results returned [2]. The National Statement on Ethical Conduct in Human Research, Section 3.5.3 [3]. 

Ethical considerations to weigh up when determining the best process for returning primary results (pertinent) [4]:

  • Research participants deserve to know their results and knowing them may have benefits such as improving public health by enabling action based on results
  • However, results could be of uncertain clinical significance and/or testing may not be accurate which could make the consent process more complex and potential for unnecessarily increase in the anxiety of the participant [1].

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What to think about when deciding on what results to return should [4]? 
  • Do results need to be returned?
  • What are the conditions of consent for return of results?
  • Do participants want to receive primary results and incidental findings?
  • Should only the results that are clinically significant be returned?
  • If results are being returned for clinical purposes, should results only be returned if the laboratory is appropriately accredited for this purpose? Note: The National Statement on Ethical Conduct in Human Research, Section 3.5.3 advises that participants need to be told whether testing is research or clinical [3].
  • Will the participants be able to understand the information provided?
  • What is the impact of this information on the participant’s family members?
  • What if there is an incidental finding
  • What if a participant doesn’t want to know their results? Individuals may be happy to have their DNA included in research but do not want to know their results. 

The NSW Health Statewide Biobank Consent Toolkit has been developed to guide the consent requirements for the NSW Health Statewide Biobank. While this has limitations for clinical genomics research it has examples of consent materials. 

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Have you thought about?

  • Who will return the results to the participant?
  • How will you fund the return of results to participants?
  • What provision has been made for return of results to participants?
  • Was this process discussed with the participants as part of the initial consent or recruitment process?
  • What provision has been made to facilitate genetic counselling for participants and their family?
  • Patients should be advised that results obtained through research are required  to be validated in an accredited clinical laboratory before such results may be acted upon.

[1] Hallowell N, Hall A, Alberg C and Zimmern R. (2015) Revealing the result of whole genome sequencing and whole-exome sequencing in research and clinical investigations: some ethical issues. J Med Ethics. 41(4):317-21

[2] 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. 5:1,1-11.

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

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