Professor Humphries debates communication of genetic risks
21 September 2006
Professor Steve Humphries, CEO of the London IDEAS Genetic Knowledge Park, who is based at the UCL Medical School, took part in the annual 'Great Debate' at the British Society for Human Genetics in York on Monday, exploring the ethical issues surrounding contacting the relatives of patients with genetic diseases.
Alongside Dr Ainsley Newson, a lecturer at the University of Bristol who until recently was also at the IDEAS GKP, Professor Humphries supported the motion that 'This house believes that Genetic Services have a duty to attempt to contact at-risk relatives directly rather than rely on communication by patients'. They argued that, in cases where the relatives of a person affected by genetic disease (proband) may also be affected, and where a medical intervention is possible, it should be the responsibility of the healthcare service to become involved in helping to inform relatives, rather than leaving it only to the proband.
There are a number of complex ethical questions surrounding this issue, including the right of the proband not to have their medical information disclosed to others; the right of relatives to know that they are at risk of a genetic disease (or their right not to know); and the right to choose to be treated, if therapies exists.
However, Professor Humphries and Dr Newson argued that the ethical imperative is to inform relatives directly in circumstances where it may enable them to act to improve their health. As well as giving people the option to be treated, knowledge of genetic defects within families can be crucial to decisions about reproduction and can allow individuals to prepare for illness later in life, they reasoned. They also pointed to the large body of published evidence that the majority of people who are told about genetic problems within their family are glad to find out.
In practice it is often better if the proband can tell their relative, as this may lessen the shock of finding out about a potential problem. However, with this option comes the risk that imprecise information is given, as knowledge can be passed along like 'Chinese whispers'. Dr Newson pointed to a case highlighted in a newspaper article about a woman who was not told that she had a BRCA1 mutation - a gene closely linked with breast cancer - which was also carried by her grandmother and two cousins, even though many in her family knew about the condition. Only after she developed breast cancer did she find out.
Opposing the motion were Professor Graeme Laurie, from the School of Law at Edinburgh University, and Ms Lauren Kerzin-Storrar, from the Regional Genetic Service at St Mary's Hospital, Manchester, who argued that a legal imperative to inform relatives would be unworkable and that a healthcare professional's first duty of care is to the patient, not the patient's relatives. Separating the issue from the question of moral obligation, they made the case that it is paternalistic to decide one way or the other whether a third party would want to know that there is a chance of genetic disease, and that it would in any case be against the proband's right to privacy.
Currently, there are no clear guidelines on whether healthcare professionals should actively contact relatives. Typical procedure, according to Professor Humphries, is to rely on the proband: "Because of a lack of resources, and because it often makes people feel uncomfortable, doctors generally advise the proband that it is important they inform any family members who might be affected. This can, however, be inefficient, so some guidelines for direct communication would be useful."
To read full commentaries from both sides of the debate, use the link at the bottom of this article.