Issue 24 / 1 July 2013

FEW will have missed the recent announcement by Angelina Jolie that she had undergone a preventive double mastectomy because she carries the BRCA1 gene.

An avalanche of media comment followed about the impact of genetics on personal medical choices. But the story raises an important medicolegal issue — if she had consulted a medical practitioner for fertility advice, would the doctor’s duty extend to providing information about inheritance of BRCA1 by her children?

In this 21st year after the High Court decision in Rogers v Whitaker, what is the duty of a doctor to inform a patient about genetic outcomes?

A careful reading of the court’s 1992 reasons in Rogers v Whitaker shows that a doctor’s duty is not limited to warning a patient of the material risks of a procedure, but more broadly “the provision of information in an appropriate case”.

It was this point that was at the heart of a recent NSW Supreme Court decision in a case that arose from an in-vitro fertilisation (IVF) procedure where the child was born with antithrombin deficiency — a condition his father was known to have.

Waller v James was a complex matter, based on a claim by the parents that the IVF gynaecologist should have warned them of the hereditary aspects of the condition that they had alleged caused their son’s disability. Although the case ultimately failed, it did raise the issue of the duty to provide, or arrange for the provision of, genetic information.

In the Waller case, the court noted that the duty to disclose was not confined to the simple risks of a proposed treatment. If the duty was confined in that way, then perhaps the doctor–patient discussion could safely be limited to issues like the impact of hormonal treatment and the chance of infection following invasive IVF procedures.

The father in this case had a clotting disorder with a 50% chance of transmission to a child, albeit with a range of clinical outcomes if so inherited. With careful attention to the particular facts in this case, the court held that it was not unreasonable to impose a duty on a doctor to inquire about a person’s knowledge of the hereditary aspects of an inheritable condition they have, to explain the desirability and purpose of a referral to a genetic counsellor or geneticist, and, if appropriate, to arrange such a referral and follow-up if it did not involve significant expense, difficulty or inconvenience.

Is there anything new in this?

For years fertility specialists and obstetricians have provided information about genetic issues in some circumstances. The usual offering of testing and provision of advice regarding Down syndrome readily springs to mind.

But that was not enough in the Waller case.

Consultations for fertility advice and IVF-type procedures may provide an opportunity for a preimplantation genetic diagnosis, to permit some inherited conditions to be identified and selected out.

In normal pregnancies consultations can also take place before pregnancy and testing may be arranged for some genetic conditions. Parental blood tests may exclude, for example, Fragile X syndrome. In some countries, premarital genetic screening has been introduced.

GPs and obstetricians may, therefore, wish to consider the potential impact of Waller v James on the scope of information they provide both before pregnancies and antenatally. The recent decision in Waller v James may serve to highlight a legal expectation for the patient to be broadly informed and to be part of a decision process which includes genetic issues.

Mr Bill Madden is the National Practice Group Leader, Medical Law, with Slater & Gordon. He previously represented the plaintiffs in the Waller v James case.


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