Confidentiality in genetic information

Abstract

Genetic medicine is increasingly used in the NHS to improve the diagnosis and treatment of cancers and other inherited conditions. Genetic tests provide healthcare professionals (HCPs) with information about their patients, but tests can also identify relatives who may be at risk of developing an inherited illness.
HCPs cannot lawfully share their patient’s confidential medical information without the patient’s consent. However, conventional models of doctor-patient confidentiality may not help HCPs who feel they have a responsibility towards their patients, but also concern for the at-risk relative. Despite these issues being examined by the High Court, discussions concerning the suitability of the legal framework on confidentiality to the needs of genetic practice persist.
My thesis makes an original contribution to the debates regarding the suitability of the legal framework on confidentiality to clinical genetics by providing an embodied account of the genetic patient. With a commitment to understanding the experiences of patients and healthcare professionals in a genetic service, the qualitative study at the heart of this thesis offers a sociolegal account of confidentiality in a clinical genetics service. Throughout my thesis, I argue that the legal framework is critical to safeguarding a patient’s interests with their confidential medical information – despite clinical observations highlighting areas of incompatibility between the law and practice. The legal framework is founded on individualistic approaches to confidentiality, whereas genetic practice conceives genetic information as a relational entity. The legal framework informs clinical practice; however, this does not mean that the law on confidentiality and an ethical position that promotes communal and relational approaches to the management of genetic information cannot coexist. The legal framework doesn’t need to, nor should it, change to meet the needs of genetic medicine; instead, the two approaches can reinforce each other and ultimately protect the rights of patients and genetic relatives.

Date of Award	13 May 2025
Original language	English
Awarding Institution	University of Bristol
Supervisor	Ken Oliphant (Supervisor) & Catherine J Kelly (Supervisor)