The New Genetics and Informed Consent: Differentiating Choice to Preserve Autonomy

Abstract

The advent of new genetic and genomic technologies may cause friction with the principle of respect for autonomy and demands a rethinking of traditional interpretations of the concept of informed consent. Technologies such as whole-genome sequencing and micro-array based analysis enable genome-wide testing for many heterogeneous abnormalities and predispositions simultaneously. This may challenge the feasibility of providing adequate pre-test information and achieving autonomous decision-making. At a symposium held at the 11th World Congress of Bioethics in June 2012 (Rotterdam), organized by the International Association of Bioethics, these challenges were presented for three different areas in which these so-called 'new genetics' technologies are increasingly being applied: newborn screening, prenatal screening strategies and commercial personal genome testing. In this article, we build upon the existing ethical framework for a responsible set-up of testing and screening offers and reinterpret some of its criteria in the light of the new genetics. As we will argue, the scope of a responsible testing or screening offer should align with the purpose(s) of testing and with the principle of respect for autonomy for all stakeholders involved, including (future) children. Informed consent is a prerequisite but requires a new approach. We present preliminary and general directions for an individualized or differentiated set-up of the testing offer and for the informed consent process. With this article we wish to contribute to the formation of new ideas on how to tackle the issues of autonomy and informed consent for (public) healthcare and direct-to-consumer applications of the new genetics.

Advantages and Disadvantages of Different Implementation Strategies of Non-Invasive Prenatal Testing in Down Syndrome Screening Programmes

“…the provision of autonomous reproductive choice, it can be argued that women should, as far as is reasonably possible, be given the opportunity to decide for themselves what test strategy best fits their personal values and preferences. This strategy is termed individualized choice [38]. Women could be offered the choice between 10-week NIPT and 13-week NIPT or above what risk threshold of the FCT they wish to undergo NIPT.…”

Patient feedback and early outcome data with a novel tiered-binned model for multiplex breast cancer susceptibility testing

“…Understanding the limitations of genetic testing is a key component of informed consent 14,18 and is particularly important in the setting of genetic tests with variable utility and uncertain risks. 3,7,37 Thus, these patient-reported data suggest that this new tiered-binned approach to genetic counseling has the potential to increase knowledge and to support informed decision making in the context of next-generation sequencing, although further larger studies designed to evaluate outcomes and the clinical application of this model are warranted.…”

Etiske utfordringer med nyere reproduksjonsteknologi

“…Forutsetningen for et gyldig samtykke, er at personene har fått og forstått relevant informasjon (Bunnik 2013;Faden 1991). Ved en rekke former for reproduksjonsteknologi kan det reises spørsmål om folk er godt nok informert om prosedyre, suksessrate og risiko.…”