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Defining categories of actionability for secondary findings in next-generation sequencing
  1. Celine Moret1,
  2. Alex Mauron1,
  3. Siv Fokstuen2,
  4. Periklis Makrythanasis2,3,
  5. Samia A Hurst1
  1. 1Institute for Ethics, History, and the Humanities, University of Geneva, Geneva, Switzerland
  2. 2Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland
  3. 3Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
  1. Correspondence to Professor Samia A Hurst, Institute for Ethics History and the Humanities, Geneva University Medical School, 1 rue Michel Servet, Geneva 1211, Switzerland; samia.hurst{at}unige.ch

Abstract

Next-generation sequencing is increasingly used in clinical practice for the diagnosis of Mendelian diseases. Because of the high likelihood of secondary findings associated with this technique, the process of informing patients is beset with new challenges. One of them is regarding the type of secondary findings that ought to be disclosed to patients. The aim of this research is to propose a practical implementation of the notion of actionability, a common criteria justifying the disclosure of secondary findings but whose interpretation varies greatly among professionals. We distinguish three types of actionability corresponding to (1) well-established medical actions, (2) patient-initiated health-related actions and (3) life-plan decisions. We argue that actionability depends on the characteristics of the mutation or gene and on the values of patients. In discussing the return of secondary findings, it is important that the physician tries to get an impression of the specific situation and values of patients. Regarding variants of uncertain clinical significance in actionable genes, we found that different understandings of autonomy lead to different conclusions and that, for some of them, it may be legitimate to refrain from returning uncertain information.

  • Genetic Information
  • Autonomy
  • Informed Consent

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Footnotes

  • Contributors CM wrote the first draft. All authors had full access to all the sources in this study and participated in the conception and design of the study, analysis and interpretation of the sources and revision of the manuscript for important intellectual content. All authors approved the final version.

  • Funding This work was supported by grants from the Käthe-Zingg-Schwichtenberg-Fonds of the Swiss Academy for Medical Sciences and from the Schmidheiny Foundation.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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