2016_GOURNA_EG_PHD.pdf (3.13 MB)
A Cross-National Investigation of Professionals’ Attitudes Regarding Clinical Sequencing and Incidental Findings
thesisposted on 2016-08-09, 09:07 authored by Elli G. Gourna
Background: Technological developments and discussions around autonomy and paternalism in clinical practice have made the return of Incidental findings (IFs) from clinical sequencing a hotly debated topic. Limited guidance and empirical evidence, combined with the recognition that both patients and professionals should be supported in what can be a life-changing experience, make the investigation of this topic both necessary and timely. To that end, the attitudes of clinical professionals were sought regarding clinical sequencing and the discovery of IFs. Methods: The attitudes of genetics professionals were investigated through a mixed-method research project conducted in two phases. Phase I consisted of a qualitative cross-national comparison using interviews with genetics experts from three countries, Greece, the UK and the USA; phase II was a quantitative piece of work using an online questionnaire with Greek geneticists. Results: Professionals showed a reluctance towards widely using clinical sequencing or returning IFs, due to the lack of a comprehensive practice framework, their limited ability to interpret genomic results, consent practices that need updating and the familial nature of genomic information inevitably affecting others than the patient. Moreover, Greek professionals reported a lack of practical support and no recognised medical specialties of clinical genetics and genetic counselling, rendering the management of IFs even more challenging. To better support their patients, Greek professionals urgently asked for guidance and support to help them integrate clinical sequencing into their professional practice and manage IFs. Conclusion: A points-to-consider document for Greece was created based on the literature and an analysis of empirical data collected. This guidance, prepared using quality criteria, took examples from other countries, but with country-specific characteristics taken into account. It is based on the bioethical principles of respect and fostering trust. It is aimed at supporting Greek genetic services providers in their practice and the patients who use those services.
Supervisor(s)Wallace, Susan; Armstrong, Natalie
Date of award2016-06-28
Author affiliationDepartment of Health Sciences
Awarding institutionUniversity of Leicester