Royal College of Surgeons in Ireland
ElenaStasi - RCSI_MHEL_reviewed-dissertation.pdf (484.85 kB)

Preventing and Treating Cancer through Genetic Testing, Research, and Pharmacogenetics: Ethical and Legal Challenges

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posted on 2023-03-20, 14:22 authored by Elena Stasi

Nowadays, cancer is one of the leading causes of death worldwide. Ongoing research proves the complexity of improving its prevention and treatment. The dissertation focuses on genetic testing, biomedical research, pharmacogenetics: how they are being implemented, how their potential can be ethically advanced and what legal challenges may arise. An in-depth literature review is conducted to analyse the technical, ethical and regulatory aspects around innovations for cancer prevention and treatment and intertwine them. Next generation sequencing technologies favour early diagnosis for some types of cancer, such as the BRCA positive ovarian and breast cancer. However, genetic testing gives rise to challenges related to incidental findings, storage of data in biobanks, gene patenting, privacy, and public health among others. Ethical and legal issues concerning biomedical research are discussed, with a focus on experimental care as well as questions on permissibility concerning cancer research conducted on animals, and the case of the Oncomouse. Breakthrough innovations in personalized medicine such as gene therapy are also considered from an ethical and legal point of view, with respect to global justice and human dignity. Inarguably, technology evolves at a faster pace than legislation; and the implementation of new therapies need to be done in an equitable way to ensure a just, safe and ethical advancement of care. The set of these elements around cancer prevention and treatment encompasses a shift in the relationship between healthcare practitioner and patient; a need for genetic counsellors; trustworthiness of the healthcare system and trust from patients in order to find an equilibrium between autonomy and paternalism to ensure optimal decision-making. To enforce quality standards in the development of novel solutions for cancer prevention and treatment in the clinical setting, appropriate legislation must accompany and protect the individual, society, and the human species.


First Supervisor

Dr. Frank Moriarty


A thesis submitted in part fulfilment of the degree of MSc in Healthcare Ethics and Law, RCSI University of Medicine and Health Sciences. 2022

Published Citation

Stasi E. Preventing and treating Cancer through Genetic Testing, Research, and Pharmacogenetics: Ethical and Legal Challenges. [MSc Thesis] Dublin: RCSI University of Medicine and Health Sciences; 2022

Degree Name

  • MSc Healthcare Ethics and Law

Date of award



  • MSc Healthcare Ethics and Law