Implications of secondary findings for clinical contexts

doi:10.1016/B978-0-12-816549-2.00008-4

Secondary Findings in Genomic Research

Translational and Applied Genomics

2020, Pages 155-201

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Abstract

Deciding how best to deal with unsought diagnostic or prognostic information provided by NGS techniques is one of the key issues for viable translation of genomics into clinical practice. The ACMG list of secondary findings is one strategy for resolving the issue of how to deal with “additional” genomic findings in adult care, but it is not the only model. Examples of clinical and translational genomics from the United States, the United Kingdom, Australia, Germany, France, Japan, Singapore, Estonia, and the Canadian province of Quebec illustrate a range of approaches to secondary or additional findings. Other cases, including testing in pediatric and prenatal populations, testing for lifestyle or wellness applications, and neonatal screening illustrate the different clinical contexts in which secondary or additional findings must be considered. In each case, practical, organizational, economic, legal, and ethical aspects of dealing with secondary findings must be taken into account when deciding how best to proceed.

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Introducing Edna: A trainee chatbot designed to support communication about additional (secondary) genomic findings
2021, Patient Education and Counseling
Citation Excerpt :
In Australia, laboratories do not generally offer additional findings [7] but action to develop policy on this topic is planned [8]. As national sequencing studies around the world begin to investigate additional findings, policy views may evolve [9,10]. International genetic testing recommendations emphasise that those considering testing must be provided with relevant information to enable them to give informed consent [11,12] and the importance of this has been reiterated in debate regarding additional findings.
To support informed decision-making about reanalysis of clinical genomic data for risk of preventable conditions (‘additional findings’) by developing a chatbot (electronic genetic resource, ‘eDNA’).
Interactions in pre-test genetic counseling sessions (13.5 h) about additional findings were characterized using proponent, thematic and semantic analyses of transcripts. We then wrote interfaces to draw supplementary data from external genetics applications. To create Edna, this content was programmed using a chatbot framework which interacts with patients via speech-to-text.
Conditions, terms, explanations of concepts, and key factors to consider in decision making were all encoded into chatbot conversations emulating counseling session flows. Patient agency can be enhanced by prompted consideration of the personal and familial implications of testing. Similarly, health literacy can be broadened through explanation of genetic conditions and terminology. Novel aspects include sentiment analysis and collection of family history. Medical advice and the impact of existing genetic conditions were deemed inappropriate for inclusion.
Edna’s successful development represents a movement towards accessible, acceptable and well-supported digital health processes for patients to make informed decisions for additional findings.
Edna complements genetic counseling by collecting and providing genomic information before or after pre-test consultations.

^*: Each of these authors should be recognized for an equal contribution to the chapter.

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Chapter 8 - Implications of secondary findings for clinical contexts

Abstract