Informed consent practices for exome sequencing: An interview study with clinical geneticists in the Netherlands

Abstract

Background: Genomic sequencing is being used more frequently in the clinic, not only by clinical geneticists, but also by other specialists ("mainstreaming"). The use of genomic sequencing gives rise to challenges regarding informed consent, as it can yield more, and more complex results.

Methods: This study maps the informed consent process for exome sequencing in the Netherlands by means of semistructured interviews with 14 clinical geneticists. Interviewees were asked about their strategies for informing patients about exome sequencing and supporting patients in their decision making, about what they think of as essential information elements, about the challenges they experience, and about their preferences for future policy and practice.

Results: Clinical geneticists typically discuss the following topics: the nature and aim of the test, the possible results (including unsolicited or incidental findings and Variants of Uncertain Significance) of the test and the consequences of those results for the patient and their family members. Some clinical geneticists use a layered approach to informed consent, meaning that they give short and concise information at first, and provide more detailed information depending on the situation or the needs of the patient.

Conclusion: During pre-test counseling for genomic sequencing, clinical geneticists use various strategies to enhance patient understanding and personalization of the informed consent process. Going forward, layering information may be part of a solution to ethical challenges of informed consent, also in mainstream settings.

Keywords: exome sequencing; genetic counseling; informed consent; interview study; mainstreaming.