Short CommunicationNext-generation sequencing in clinical practice: from the patients' preferences to the informed consent process
Introduction
The development of high or very high throughput sequencing (next-generation sequencing: NGS) in genomic medicine is completely transforming our perception of the nature of information from genetic tests. Indeed, NGS generates not only expected results but also incidental results or results whose significance is uncertain. This raises methodological questions about the economic evaluation of these tests, and sensitive ethical issues concerning the place of such information in consent procedures for patients.1, 2 Certain studies have specifically evaluated this incidental and uncertain information by revealing the patients' preferences or by studying the trade-off between the benefits and risks of genetic tests. Are these studies sufficient to know what informed consent would or should be? Do not patients and their families give value to other dimensions of the relationship between geneticists and patients? Other studies have indeed shown that independent, voluntary, informed consent supposes that patients are provided with information beforehand, have the right to be informed and not informed, and should be accompanied. Finally, these different approaches advocate the evaluation of patients' preferences, which takes into account different dimensions of the information and consent process with regard to NGS.3
After a presentation of the literature, this article presents the qualitative protocol of a study that aims to reveal, using the discrete choice experiment (DCE) approach, the preferences of the families of patients with rare diseases with regard to the communication of results from NGS. This step showed that to understand the patient's decision-making process in a context of informed consent, it is necessary to think not only about how patients' families perceive the information but also how this information is communicated, defined and accompanied in the context of a doctor–patient relationship.
Section snippets
Specific aspects of information from NGS
The development of genomic medicine is based on the identification of «genetic information» making it possible to diagnose a disease, to adapt a treatment or to assess risk factors. Though this «genetic information» has raised great hopes in research and clinical practice, it has given rise to many questions.1 In the first phase of their development, the purpose of genetic tests was to search for particular genetic mutations (for example: a 3rd chromosome on the 21 pair to diagnose Down
The value of incidental results from NGS
The literature mainly focuses on incidental findings and the understanding of their value. How is this genetic information priced? By whom and according to what billing method? Traditionally, willingness-to-pay studies show that three dimensions interact to form the value of a diagnostic test from the patient's point of view: the «medical value» (curative and therapeutic results), the «planning value» (impact on life choices) and the «psychic value» (impact on well-being).4 Willingness-to-pay
The importance of incidental results in the informed consent procedure
Employing the notion of clinical utility to attribute a value to incidental NGS results is an incomplete approach but has the greatest consensus among the parties involved ‒ clinicians, patients, families and more widely society at large. Nonetheless, the weight given to clinical utility in the decision-making process varies depending on the party, notably because of other factors: the capacity to deliver and to interpret the results, the autonomy and rights of patients, the doctor–patient
What are the relevant attributes to value the informed consent process in rare diseases?
We have set up a discrete choice experiment (DCE) to elicit the preferences of French parents of children suffering from rare diseases with development disorders and who could benefit from NGS. We have focused on rare diseases with development disorders because the etiological diagnosis is often unknown, thus leading to multiple medical consultations, long delays before reaching a diagnosis and frustration in the families concerned. In addition, long delays mean the possible loss of
Acknowledgements
This research has benefited from the participation and comments of the Pr Laurence Olivier-Faivre (CHU Dijon, university of Burgundy) and its team. We thanks Philippe Bastable for the translation and proofleading of the document.
Ethical approval
Not required. This study does not stand on patients' interviews. We present and discuss the stakes raised by the topic and our methodology, based on a pilot with focus-groups.
Funding
This research is undertaken in the context of Fondation Maladies Rares and was supported by
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Laboratoire d'Économie de Dijon (CNRS UMR 6307, INSERM U 1200), Pôle d'Économie et Gestion, Université de Bourgogne, 2 boulevard Gabriel, BP 26611, 21066 Dijon Cedex, France.