Genetic counselling 14/3/03. By Deirdre Janson-Smith Helping people faced with a diagnosis of genetic disease to understand both the factual information about the disease and the effect it will have on their lives, so that they can reach their own decisions about the future.

People seeking genetic counselling may be newly diagnosed patients, new parents or couples planning a pregnancy, or family members concerned that they too may carry a disorder. Counselling aims to bridge the gap for them between the often complex and fast moving field of genetics and their everyday world. It helps them understand the nature of the disease and what having it will mean in practical terms, what options there might be for prevention/testing, the risks of recurrence and the implications for other family members.

Crucially, genetic counselling is non-directive, supporting people in reaching their own decisions, based on their own unique medical and social circumstances.

Genetic counselling touches very deeply on human emotions of guilt, grief and fear, and on deeply felt moral beliefs. Counsellors are trained to help people through the inevitable emotions that a diagnosis arouses – and which ripple through the whole family because of their shared genetic inheritance. No two patients are the same, and genetic counselling has to be sensitive to the fact that a diagnosis can have very different meaning to different people.

Counsellors work as part of a wider healthcare team, involving clinical consultants, nursing and primary care teams. Most people are referred through a GP or hospital consultant following a diagnosis. Others seek advice following the discovery of a genetic disease in their family. They may want immediate help, or choose to let the diagnosis sink in.

The first meetings generally involve sorting out a family history and gaining additional diagnostic information if necessary. Correct diagnosis is absolutely vital for genetic counselling to be effective, and people may be referred for further testing by a clinical geneticist. Once the diagnosis is clearly established, the counsellor can then tailor the sessions to meet the family's specific needs.

Genetic counsellors are specially trained professionals, most of whom come from a medical or nursing background and who have first hand knowledge of genetic disease and its practical impact. It is essential that they keep up-to-date in a rapidly developing field, which often raises difficult ethical challenges as the pace of genetic research allows more and more diagnoses that cannot be matched by options of treatment and cure.

Image credit: Anthea Sieveking