Pre-test counselling and informed consent

“Patients…often overestimate the quantity, utility, and certainty of information…provided through genomic sequencing. Such unrealistic expectations are fueled by…presentation of the test as the most comprehensive…available”.

Tibben, A., & Biesecker, B. B. (Eds.). (2019). Clinical Genome Sequencing: Psychological Considerations. Academic Press. pg 127

Genetic and genomic testing can generate uncertain or unanticipated information. Genetics is also familial, meaning results of genomic testing can have implications for other family members. Therefore, adequate informed consent is essential.

A key challenge in gaining informed consent is patient understanding, with patients often having limited health/genetic literacy. Another challenge is grappling with the range of possible results, from no result, through to one that is uncertain or unknown. Unknown or uncertain results can change over time as new information emerges.

An important aspect of pre-test counselling and consent, therefore, is ensuring that patients have realistic expectations for testing. Another aspect that requires discussion is the need to share information and results on a global scale (de-identified). As individual test results or variants are often very rare, sharing genomic knowledge globally is what makes genomic testing possible; it is essential to enable clinicians to determine the significance of test results.

Patients also need to consider the utility of genomic information for their situation. Testing can provide information that is useful to their own future family planning or to other family members but may also reveal non-paternity or consanguinity. A genomic test may reveal information about a future disease risk (e.g., cancer) or provide uncertain results, which could cause anxiety or frustration and be challenging to manage.

Downloads

AGHA patient information

AGHA consent form