Empowering Patients with Additional Data in Genomic Medicine

  • Guillaume Durand Département de philosophie, UFR Lettres et Langages; Centre Atlantique de Philosophie (CAPHI, EA 7463), Université de Nantes; MSH Ange Guépin (USR 3491 – CNRS), Nantes, France
  • Manon Guillet Département de philosophie, UFR Lettres et Langages, Université de Nantes, Nantes, France
  • Sandra Mercier INSERM UMR 1087, CNRS UMR 6291, Université de Nantes; Service de génétique médicale, CHU de Nantes, Nantes, France
Keywords: Autonomy, genetics, additional data, secondary data, ethics, Next generation sequencing, exome, genome
Language(s): French


In recent years, we have witnessed a technological revolution in molecular genetics with the advent of next-generation sequencing (NGS). During medical genetics consultations in hospitals, patients are confronted with the difficult question of research and disclosure of so-called additional data, which are not related to their pathology, the primary data. This may be incidental data (the discovery is incidental) or secondary data, i.e., data actively searched for in a defined list of genes. How can we ensure that patients are sufficiently autonomous in dealing with this issue? What is the role of the healthcare team? Can we harmonize practices with respect to these data? We propose a variable scale strategy applied to genetics that consists in adapting the degree of autonomy required according to the medical impact and the level of reliability of the genetic data transmitted to the patient. We also provide elements to promote patient autonomy. We believe it is necessary to separate primary from additional data, to develop the means to provide adequate information to patients, and finally to support patients in their process with psychological support and to respecting a certain period of reflection. Ultimately, it is the responsibility of the medical team to assess, on a case-by-case basis, the appropriateness of seeking this data and disclosing it to the patient.
How to Cite
Durand G, Guillet M, Mercier S. Empowering Patients with Additional Data in Genomic Medicine. Can. J. Bioeth. 2019;2:135-42. https://doi.org/10.7202/1065692ar.