Résumés
Abstract
Introduction: Non-invasive prenatal testing (NIPT) allows for genetic testing of a fetus through the analysis of cell-free DNA from the mother’s plasma. NIPT is easy and safe for the fetus, since it only requires a blood draw from the mother and therefore holds no risk of miscarriage. It is considered superior to other prenatal screening tests and can also be performed earlier in the pregnancy. NIPT has the future potential for fetal whole genome sequencing (FWGS) for an expanded range of conditions, such as late onset genetic conditions and carrier status. Objective: To review ethical, legal, social, and policy implications of the potential use of non-invasive prenatal testing for FWGS. Methods: This study is a critical interpretive literature review exploring and reporting ethical, legal, social, and policy implications of potential future implementation of NIPT for FWGS, which will be referred to as non-invasive prenatal whole genome sequencing (NIPW). Database and reference list searching was conducted between 2010 and 2019 for terms related to “non-invasive prenatal testing” AND “fetal whole genome sequencing” and derivatives. Results: Following screening, 32 articles were included. Data were grouped into four thematic categories: 1) ethical implications for the future child concerning autonomy and harms, as well as for prospective parents involving autonomy, informed consent concerns, and harms; 2) legal implications including privacy concerns; 3) social implications including changes in family dynamics, altered societal perceptions and disability concerns, justice and equity in accessing the test, and social pressure to use the test; and 4) policy implications including cost and funding concerns, limiting the scope of testing, as well as counseling, education, and support. Discussion: The discussion of results highlights several ethical, legal, social, and policy implications of NIPT use for FWGS. These findings have implications on NIPT implementation for FWGS including how the autonomy of the future child should be balanced with the autonomy of prospective parents, the scope of conditions that should or should not be tested for – and covered or not covered by the healthcare system – and the regulation of FWGS introduction, among others. Further research needs to be performed to address these concerns and hence guide the discussion about the clinical implementation of FWGS through NIPT.
Keywords:
- non-invasive prenatal screening,
- fetal whole genome sequencing,
- ELSI,
- future child,
- prospective parents
Résumé
Introduction : Les tests prénataux non invasifs (TPNI) permettent d’effectuer des tests génétiques sur un foetus par l’analyse de l’ADN sans cellules provenant du plasma de la mère. Le TPNI est facile et sûr pour le foetus, puisqu’il ne nécessite qu’une prise de sang de la mère et ne présente donc aucun risque de fausse couche. Il est considéré comme supérieur aux autres tests de dépistage prénatal et peut également être réalisé plus tôt dans la grossesse. Le TPNI a un potentiel futur pour le séquençage du génome entier du foetus (SGEF) pour une gamme élargie de conditions, telles que les conditions génétiques à déclenchement tardif et le statut de porteur. Objectif : Examiner les implications éthiques, juridiques, sociales et politiques de l’utilisation potentielle des tests prénataux non invasifs pour le SGEF. Méthodes : Cette étude est une revue critique et interprétative de la littérature explorant et rapportant les implications éthiques, légales, sociales et politiques de la mise en oeuvre potentielle du TPNI pour le séquençage du génome entier du foetus, qui sera appelé séquençage prénatal non invasif (SPNI). Une recherche dans les bases de données et les listes de références a été effectuée entre 2010 et 2019 pour les termes liés à « test prénatal non invasif » ET « séquençage du génome entier foetal » et dérivés. Résultats : Après la sélection, 32 articles ont été inclus. Les données ont été regroupées en quatre catégories thématiques : 1) implications éthiques pour le futur enfant concernant l’autonomie et les préjudices, ainsi que pour les futurs parents concernant l’autonomie, les préoccupations relatives au consentement éclairé et les préjudices ; 2) implications juridiques, y compris les préoccupations relatives à la vie privée ; 3) implications sociales, y compris les changements dans la dynamique familiale, les perceptions sociétales modifiées et les préoccupations relatives au handicap, la justice et l’équité dans l’accès au test, et la pression sociale pour utiliser le test ; et 4) implications politiques, y compris les préoccupations relatives au coût et au financement, la limitation de la portée du test, ainsi que le conseil, l’éducation et le soutien. Discussion : La discussion des résultats met en évidence plusieurs implications éthiques, juridiques, sociales et politiques de l’utilisation du TPNI pour le SGEF. Ces résultats ont des implications sur la mise en oeuvre du TPNI pour le SGEF, y compris la manière dont l’autonomie du futur enfant devrait être équilibrée avec l’autonomie des futurs parents, la portée des conditions qui devraient ou non être testées – et couvertes ou non par le système de santé – et la réglementation de l’introduction du SGEF, entre autres. Des recherches supplémentaires doivent être menées pour répondre à ces préoccupations et ainsi orienter le débat sur la mise en oeuvre clinique du SGEF par le biais du TPNI.
Mots-clés :
- dépistage prénatal non invasif,
- séquençage du génome entier du foetus,
- QEJS,
- futur enfant,
- futurs parents
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