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No need for options for choice for unsolicited findings in informed consent for clinical genetic testing

European Journal of Human Genetics volume 31, pages 1095–1096 (2023)Cite this article

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As demand for clinical genetic testing services is rising rapidly, there is a need for approaches to pre-test counselling and informed consent that are equally effective but less time-consuming. In time-constrained settings, physicians may need to limit themselves to conveying key information to enable patients to make informed decisions about genetic testing. However, there is currently a lack of guidance on what constitutes key information about clinical genetic testing. In this issue, Hallquist and colleagues present a list of ‘core concepts’ that are deemed minimally necessary to discuss with patients prior to genetic testing, which was developed by the Clinical Genome Resource (ClinGen) Consent and Disclosure Recommendations (CADRe) Workgroup [1]. They report the results of a survey of US-based medical geneticists and genetic counsellors, which validate the CADRe list of core concepts as a model for targeted pre-test discussions. The model can be used as a basis for the development and/or revision of (inter)national guidelines for pre-test counselling and informed consent for clinical genetic testing.

Informed consent is commonly understood as an ‘autonomous authorisation’ [2] by the patient, in this case, of a genetic test. It presupposes the patient to (a) have the capacity to consent, (b) be free to make a voluntary decision, and (c) be well-informed about the genetic test. The latter implies that a patient should understand ‘material’ information about the test, i.e. information that a ‘reasonable’ patient would likely find relevant in deciding whether or not to undergo the genetic test [2]. It does not imply that a patient should understand everything there is to know about genetic testing. After all, genetics is notoriously complex, our understanding of it is continually evolving and subject to revision, and new testing technologies, including exome and whole-genome sequencing, may yield multitudes of sought and unsought test results, which may each be associated with arrays of potential medical, psychological, socio-economic implications. In pre-test discussions between physicians and patients, therefore, full disclosure of all information about genetic testing would simply be impossible. Clearly, a balance must be sought between “comprehensiveness and comprehensibility” [3].

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References

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  1. Department of Medical Ethics, Philosophy and History of Medicine, Erasmus MC, University Medical Centre Rotterdam, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands

    Eline M. Bunnik

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Correspondence to Eline M. Bunnik.

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Bunnik, E.M. No need for options for choice for unsolicited findings in informed consent for clinical genetic testing. Eur J Hum Genet 31, 1095–1096 (2023). https://doi.org/10.1038/s41431-023-01424-7

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