Disclosure of genetic results to relatives – is there a gap between practice and regulation?

Dr Carolyn Johnston2, Dr Rebekah McWhirter1

1Centre for Law and Genetics, Faculty of Law, University of Tasmania, Hobart, Australia, 2Melbourne Law School, University of Melbourne, Melbourne, Australia

Disclosure of genetic information to genetic relatives without consent of the patient presents legal and ethical challenges. Although currently not a common dilemma for practitioners, as knowledge of the genetic basis for familial conditions expands health practitioners will increasingly encounter situations which require them to determine whether to disclose a patient’s genetic status to prevent or reduce serious harm to others. This has been identified as ‘a looming area of medico-legal controversy.’

Genetic counsellors are faced with a plethora of legalisation, common law and guidance. In Australia, there is tension between the State and Commonwealth Privacy Acts, as well as the duty of confidentiality and guidance issued by the NHMRC.  The differences between the requirements for private and public health sectors are further complicated by the increasing blurring of lines between public and private for individual practitioners.

One element of effective regulation is for those to whom it applies to be certain about its application, without the need to defer to lawyers or clinical ethics committees. In this presentation we address whether a healthcare practitioner can navigate with assurance the boundaries of regulation with respect to disclosure of genetic information. We will present the application of legal and ethical principles to a clinical scenario and argue that any certainty around disclosure of genetic information without consent can be contested. Finally, we make parallels with notifiable health conditions and consider whether there should be mandatory disclosure for certain inherited genetic disorders, and if so, what might be the salient features of such conditions justifying disclosure.


Dr Carolyn Johnston is Senior Research Fellow in law and biotechnology. Before joining Melbourne Law School, Carolyn was Adviser, Medical Law & Ethics at King’s College London School of Medicine and Senior Lecturer, Kingston University, London, UK. Carolyn’s research focuses on clinical ethics and law, the legal issues that arise from the establishment of large-scale research infrastructures such as biobanks and data-sharing networks, advance decisions and best interest decision making for adults who lack capacity.