1.1.1 Genetic counselling

In the UK and many other countries, genetic testing is provided by the National Health Service (NHS) or its equivalent, only after patients have undergone genetic counselling. This is defined as the provision of information and advice about inherited disorders, and includes helping people to:

• Understand medical facts;

• Appreciate the way in which inheritance contributes to the disease in question;

• Understand the options for dealing with the disorder;

• Choose the course of action with which they feel most comfortable – or least uncomfortable.

The advice-giver may be a doctor, a specialist genetic counsellor or, perhaps, a nurse with special training in genetics.

The core value of genetic counselling is often taken to be non-directiveness; it is not the counsellor's job to tell a patient what to do, but simply to help them to make an informed decision. Thus genetic counselling is ‘not about making wise decisions, but about making decisions wisely’. Counsellors should not even advise people whether to take a test or not, nor should they recommend a particular course of action should the patient opt for testing. Despite the long tradition of non-directiveness in genetic counselling in the USA and Europe, there are still debates about it in a medical setting. One problem is how to assess the success of a counselling service. How can one measure ‘effective communication’, and ‘good decision-making’? For example, should pre-natal diagnosis be assessed in terms of the number of tests carried out and pregnancies terminated (which is an option if a pre-natal test indicates an affected fetus)? This would provide administrators with useful numbers, but has been criticized as forcing counsellors to see success in terms of only one output — and hence encouraging directiveness. Simply providing genetic counselling and the option of pre-natal testing might make some individuals feel that they have to have a termination if the pre-natal test indicates problems.

Another aspect of genetic counselling is the provision of carrier testing for families whose history makes them suspect that they may have a genetic disorder. This means identifying those individuals who, although not suffering from the recessive disorder, do carry one version of the faulty gene and could pass it onto their children. Although carrier testing does not involve the emotional challenges of telling patients that they, or their child, have a genetic disorder, it does involve issues such as risk to future children, and whether partners should be tested to see if they too are carriers.

The point about this brief discussion of genetic counselling has not been to provide clear-cut answers, but to show that even in the case of a practice that has been developed for decades, there are still a large number of issues that are hard to settle. Thus we should not be surprised to find that when we look at more recent developments in genetic technologies — such as testing for multifactorial diseases — clear-cut answers and easy predictions about how people behave and what services to offer are also in short supply.