Volume 194 - Issue 12
Alerting genetic relatives to a risk of serious inherited disease without a patient’s consent
Authors: Roger W Byard and Stephen M Cordner
Med J Aust 2011; 194 (12): 671. || doi: 10.5694/j.1326-5377.2011.tb03171.x
Published online: 20 June 2011
Published online: 20 June 2011
To the Editor: Suthers and colleagues raise a number of significant ethical issues regarding patients’ right to privacy and the passing of genetic information to relatives.1 Although the National Health and Medical Research Council guidelines relate specifically to private practice and living patients,2 similar dilemmas arise during medicolegal autopsies.
Forensic pathologists regularly encounter conditions in deceased individuals that may have implications for surviving family members. Examples include advanced coronary artery atherosclerosis in a young individual, raising the possibility of a familial dyslipidaemic syndrome; pulmonary thromboembolism, suggesting a hereditary thrombophilia;3 and haemochromatosis. However, there are no national guidelines, let alone nationally consistent laws, for the appropriate handling of such information.
It would seem obvious that a deceased person’s relatives should have access to information of possible significance to their health. If a family wishes to receive such information, then mechanisms to pass it on should exist. These might range from contact with the forensic pathology service itself, to referring the family to a general practitioner or physician who has been briefed by the service. Whoever takes on this responsibility should be aware of the subtleties and pitfalls of genetic counselling. For example, the relevant condition may be an incidental finding rather than what caused the death (eg, haemochromatosis in a person killed in a road accident).
The issues concerning the identification of, and appropriate medical response to, serious familial conditions at autopsy involve: accurately establishing the potential significance of postmortem findings;4 determining whether the family wish to be made aware of this information; disclosing the information to family members when a patient is deceased and not able to give consent; and deciding on the mechanisms by which this should be done. A complicating factor is the role of the coroner, as autopsies and subsequent reports are performed and written under coronial, not medical, authority. However, the authors of these reports are first and foremost doctors, and many feel a therapeutic obligation to the families of those whose autopsies they have performed. Many of these pathologists feel that the autopsy is indeed for the family — even if it is formally for the coroner and the public interest. However, it is no part of the coroner’s legislated responsibility to look after the health of surviving family members. It would therefore be a useful service to accommodate these issues in future iterations of the national guidelines.2
References
- Suthers GK, McCusker EA, Wake SA. Alerting genetic relatives to a risk of serious inherited disease without a patient’s consent [editorial]. Med J Aust 2011; 194: 385-386. 0_CBBGCAAG
- National Health and Medical Research Council. Use and disclosure of genetic information to a patient’s genetic relatives under section 95AA of the Privacy Act 1988 (Cth). Guidelines for health practitioners in the private sector. Canberra: NHMRC, 2009. http://www.nhmrc.gov.au/publications/synopses/e96syn.htm (accessed May 2011).
- Ely SF, Gill JR. Fatal pulmonary thromboembolism and hereditary thrombophilias. J Forensic Sci 2005; 50: 411-418. 0_CBBHDEGI
- Byard RW. The potential significance of occult cardiac rhabdomyomas at autopsy in traumatic death. Forensic Sci Med Pathol 2011 Jan 9 [Epub ahead of print]. 0_pgfId-2329510