Ethical, Legal, and Social Issues
Ethically defensible plan for return of results
When developing an ethically defensible plan, it may be helpful to ask two broad questions:
1. Should results be returned?
2. How should the results be communicated?
Should Results be Returned?
Did the PICF mention return of this type of result?
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Proceed to evaluate according to the result type (see below).
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Consider the clinical and scientific validity and clinical utility of the result and approach the HREC if it is ethically questionable to withhold this result.
What type of result is involved?
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Most studies would return a result related to the primary reason for participation. However, the scientific and clinical validity and clinical utility of the result would need to be evaluated (see below).
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Before considering returning these results, it is important to ask more questions.
• Does this result overlap with any conditions which the PICF stated would not be returned (e.g., neurodegenerative disorders for which there is no treatment)?
• Is the result relevant to the participant’s health?
• Does the result have scientific and clinical validity and utility (see below)?
• What are the risks and benefits to the participant receiving this information?
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It is less common for research studies to intentionally interrogate additional genes with health implications, which are unrelated to the primary condition. However, in those cases, the condition will be relevant to the participant’s health. The variant itself will need to be evaluated for scientific and clinical validity and utility (see below).
What is the clinical and scientific validity of the result?
Has this gene been previously reported in association with the participant’s condition?
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Then need to evaluate the credibility of the variant (see below).
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Additional families and/or laboratory analysis would then be needed to verify that this was the causal gene. The team would need to meet the burden of proof needed for publication in a peer-reviewed journal before considering sharing the result with the participant.
Has the variant been previously reported as pathogenic or likely pathogenic in a clinical database in association with the participant’s disease?
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Then proceed to decide how best to return the result (see below).
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Consult with genetics experts to determine whether the variant is likely to be disease causing. If they agree, then proceed with a plan for the return of result (see below).
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Then proceed to decide how best to return the result (see below).
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Typically, such results would not be returned to a participant, unless they pertained to the primary reason for participating in the study.
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Discuss with a clinical genetics expert and, if equivocal, seek an ethics consult.
Does the variant have clinical utility (i.e., the test result could prompt an intervention which improves the participant’s health or lowers their risk)?
How should the results be communicated?
Does the research team include clinicians?
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• If the research team includes clinical genetics experts (e.g., genetic counsellor or medical geneticist), they could communicate the result.
• A non-genetics research clinician could return the result, once the clinical and scientific validity and clinical utility of the variant was confirmed.
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• A professional genetic counselling service could be used for return of results e.g. My Research Results
• The research team could share the result with the participant’s caring clinician who could then facilitate the return of results.
What follow up care would be needed?
The participant will always be referred for confirmatory testing in an NATA accredited laboratory, typically through a clinical genetics service.
The clinical genetics service will liaise with the general practitioner to ensure the participant is referred to specialists for screening/treatments relevant to the condition in question.
Once the participant’s result has been confirmed in a clinical laboratory, the clinical genetics service will discuss with the participant whether testing of other family members is indicated (i.e., cascade testing).
Scenario - A girl named Jane Part C
After contenting to and participating in a genomics study, Jane received her results. Watch the below video to see how a genetic counsellor may discuss what can happen next after a research participant receives their primary results.