Informed consent ensures that patients understand the purpose, implications and potential outcomes of testing before deciding to do a test. Because genomic information can affect not only the individual but also their family, consent processes must be thorough and tailored to each person’s circumstances.
Key elements of informed consent
Healthcare professionals should support patients by clearly explaining:
- Purpose of the test and its methodology – including whether it is diagnostic, predictive or part of a broader screening program
- Possible outcomes – such as identifying a genetic condition, finding variants of uncertain significance or discovering incidental findings unrelated to the original reason for testing
- Implications for family members – including the possibility that results may reveal risks to biological relatives or uncover unexpected relationships
- Data use and storage – how genomic data will be stored, who may access it and whether it may be reanalysed in the future
- Right to not know – patients have the right to decline testing, even after testing has begun, provided results have not yet been disclosed or acted upon.
Consent should be an ongoing conversation, not a one-time event. Patients may need time to consider their options, ask questions and involve family members or support people in decision-making.
Supporting diverse needs
Effective consent processes must be inclusive and culturally safe. This includes:
- Using plain language and avoiding technical jargon
- Providing translated materials or interpreter services where needed
- Recognising the importance of community consultation and collective decision-making, especially for Aboriginal and Torres Strait Islander people
- Considering past interactions with health services, and applying a trauma-informed care approach
- Being sensitive to the emotional and psychological impact of testing, particularly in paediatric, prenatal or predictive contexts.
Healthcare professionals should also consider the patient’s health literacy, cultural background and personal values when discussing genomic testing.
National Model of Consent for Clinical Genomic Testing
The National Model of Consent for Clinical Genomic Testing provides a consistent and standardised approach to the consent process for genomic testing.
The New South Wales Ministry of Health developed it on behalf of the former Australian Health Minister’s Advisory Council Project Reference Group on Health Genomics.
See the National Model of Consent for Clinical Genomic Testing on the NSW Health website.