A patient was referred to a gastroenterologist. His father had a familial form of colorectal cancer, familial adenomatous polyposis, and had died when the patient was 12 years old. The patient had been found to carry a mutation in the APC gene.
The patient had already been given an explanation of the need to monitor people with this mutation and of the risks involved. This explanation was reinforced by the gastroenterologist, with discussion covering the importance of sharing the information with genetic relatives and the potential for disclosure to take place without consent in certain circumstances. The patient refused to make contact with his estranged wife and their three sons.
When the specialist suggested that she could contact them on his behalf, he said it was not his problem, that he did not know where they were and that he did not want them to be contacted. However, the specialist realised that one of the sons (aged 13 years) had recently been referred to her complaining of abdominal pain. The gastroenterologist discussed the case with a senior colleague and also consulted a clinical geneticist.
The NHMRC Guidelines for Health Practitioners in the Private Sector for the Use and Disclosure of Genetic Information to a Patient’s Genetic Relatives under section 95AA of the Privacy Act 1988 (Cth) provides scenarios such as this one to assist medical practitioners when issues of consent arise in relation to genetic information.
These Guidelines apply to organisations that have obtained genetic information in the course of providing health services to individuals (including, for example, medical specialists and general practitioners in private practice).
The Guidelines are an essential tool for assisting with decision making and the process for use and disclosure. However, as disclosure without consent represents a significant departure from normal practice and is only permissible in certain circumstances, it is recommended that members call MIGA to discuss the circumstances with one of our solicitors in the Claims & Legal Services team before authorising disclosure.
Risk management tips
The Guidelines recommend the following key points for good practice:
- Seek advice on the nature of the threat to genetic relatives and on the necessity for disclosure without consent from colleagues and relevant experts and/or committees. Document the outcomes of these discussions;
- Refer the patient to another medical practitioner with the appropriate expertise or consult colleagues and outside experts if not an expert in the field yourself;
- Organise discussion of the case so that all involved have time to prepare and document the outcomes of these discussions; and
- Identify another medical practitioner who is able to fulfil the role if you are unwilling to undertake the role of authorising medical practitioner.