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Ethical considerations in paediatric genome-wide sequencing

Eichinger, Johanna. Ethical considerations in paediatric genome-wide sequencing. 2024, Doctoral Thesis, University of Basel, Faculty of Medicine.

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Official URL: https://edoc.unibas.ch/96632/

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Abstract

This thesis presents research conducted between 2018 and 2023, addressing various ethical challenges related to paediatric genome-wide sequencing, with a particular focus on the clinical contexts in Germany and Switzerland.
Chapter One serves as an introductory section, establishing the foundational context for the subsequent chapters. It delineates the rapid advancements which the ability to investigate the human genome has undergone in the last decades and underscores their profound impact on medical genetics. Furthermore, it explains the scientific fundamentals surrounding genome-wide sequencing and provides an initial glimpse into the associated ethical challenges. The latter remains concise, as Chapter Three provides an extensive literature review of ethical aspects. Chapter One then sheds light on the research gaps, which this project has addressed. Finally, this initial chapter outlines the research objectives of this thesis.
Chapter Two offers an overview of the methodological approaches employed in this research to achieve the previously outlined objectives. It concentrates on those aspects which are not covered in the methods sections of the research articles themselves. Subsequently, the chapter provides an overview of the individual contributions made within this study.
Chapter Three presents a systematic qualitative review encompassing the full spectrum of ethical considerations in paediatric genome-wide sequencing, as discussed in the normative and empirical literature. It provides a comprehensive ethics matrix cataloguing 106 identified ethical issues, underscoring the substantial amplification of ethical challenges compared to traditional genetic testing. The chapter emphasises the importance of fostering awareness regarding the possibilities and challenges posed by genome-wide sequencing, also within non-genetic specialities.
Chapter Four explores the intricacies associated with obtaining ethically sound informed consent for paediatric genome-wide sequencing. The qualitative analysis of interviews with Swiss and German medical geneticists highlights their concerns regarding the validity of parents’ informed consent due to the extensive information given and the complexity of possible test outcomes. The study concludes that shifting expectations from the conventional ideal of fully informed consent to a more realistic and ethically sound model of appropriate informed consent is necessary.
Chapter Five provides insights into the perspectives and experiences of medical geneticists in Germany and Switzerland regarding the concept of non-directiveness. The analysis reveals significant uncertainties and divergences in their understanding and application of the concept. The study concludes that an adequately nuanced understanding and application of non-directiveness is crucial to circumvent the risks inherent in the principle, while simultaneously promoting patient autonomy and beneficence.
As a theoretical endeavour, Chapter Six introduces the concept of considering parents of seriously ill children as secondary patients. This could serve to raise awareness about the profoundly interacting and interdependent vulnerabilities of paediatric patients and their parents and could also be instrumental in advocating for increased support. The chapter concludes that the notion of secondary patients represents a significant stride towards acknowledging the relational nature of healthcare more generally.
Chapter Seven presents the results of the qualitative study with medical geneticists in Germany and Switzerland surrounding the reimbursement of paediatric exome sequencing. It reveals that participants highlighted the frequent lack of reimbursement by health insurers and related legal aspects as a significant problem, imposing a substantial administrative burden, leading to significant injustices, and undermining clinical decision-making. The chapter offers a comprehensive analysis of the legal framework as well as of the underlying ethical concepts and advocates for a broader perspective on therapy and health.
Chapter Eight expands upon the discourse concerning fair, equitable, and consistent reimbursement, broadening the scope from diagnostics to include reimbursement for orphan medicinal products. Employing the systematic review of reasons methodology, this chapter offers a systematic analysis of the moral arguments both in favour of and against granting orphan medicinal products special status when considering them for reimbursement within publicly funded healthcare systems. Chapter Eight contends that on a normative-theoretical level, there is no clear-cut solution for this challenge and provides suggestions what the scientific discourse and health technology assessments should focus on instead.
Finally, in Chapter Nine a general discussion of the key results of thesis is presented, highlighting their significance and implications. Additionally, it sketches out critical topics of major relevance in the context of paediatric genome-wide sequencing which warrant further research. As this project could not empirically investigate parental perspectives, Chapter Nine then offers a concise overview of studies conducted with parents in other countries. After addressing general limitations of the research conducted, Chapter Nine ends with some concluding remarks.
Advisors:Elger, Bernice Simone
Committee Members:Filges, Isabel and de Miguel Beriain, Inigo and Koné, Insa
Faculties and Departments:08 Cross-disciplinary Subjects > Ethik > Institut für Bio- und Medizinethik > Bio- und Medizinethik (Elger)
03 Faculty of Medicine > Departement Public Health > Ethik in der Medizin > Bio- und Medizinethik (Elger)
UniBasel Contributors:Eichinger, Johanna and Elger, Bernice Simone and Koné, Insa
Item Type:Thesis
Thesis Subtype:Doctoral Thesis
Thesis no:15615
Thesis status:Complete
Number of Pages:xii, 277
Language:English
Identification Number:
  • urn: urn:nbn:ch:bel-bau-diss156153
edoc DOI:
Last Modified:18 Jan 2025 05:30
Deposited On:17 Jan 2025 09:22

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