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Genetic counselling is a recently developed branch of medicine so many people do not understand what it involves. Genetic counselling may be offered by a doctor who specialises in genetics or by a genetic counsellor. Genetic counsellors are health professionals who have undergone specialist training following either a university degree in genetics or a related science or following qualification as a nurse or midwife.

What is genetic counselling?

Some conditions run in families. Genetic counsellors can give people information about these conditions, how they are inherited and which family members may be affected. They can also discuss the care of patients with genetic disorders and any choices that may be available to them to help reduce the impact of their disorder.

Who needs genetic counselling?

Anyone who is concerned about a condition in their family that they think may be inherited. Many people want to know their own chance of inheriting or passing on the genetic condition in their family. Quite often people find that their risks of an inherited disorder are quite low and are reassured by this information.

Some people affected by a genetic condition benefit from specialist care and genetic counsellors can arrange appropriate appointments with other specialists.

Sometimes a paediatrician will suggest a genetic assessment for a child who may have a genetic condition. Not all genetic disorders are inherited from parents as they can arise spontaneously in a child with no previous family history. It is still helpful to understand whether or not the condition is genetic as this may help in the medical care of the affected child and may have implications for other children in the family.

It is possible to test for some genetic conditions during pregnancy and couples planning a pregnancy where one of them has a family history of a genetic disorder may wish to discuss these tests.

What will happen at my appointment?

Consultations usually last between 45 and 60 minutes.

We will discuss your concerns and draw your family tree, including the medical details of your relatives such as their diagnosis and, for deceased relatives, the cause and age of their death. We may write to you before your appointment asking for certain information. It is very useful if you can make a note of these details before you come to the clinic or can bring with you a relative who knows these details. We would, of course, never approach one of your relatives without your permission to do so.

We will then assess the likelihood that you may be affected by a genetic disorder and discuss any choices available to you to help reduce its impact. We will try to help you to understand this using everyday language and will answer any questions you may have.

Will any tests be done at my appointment?

We may suggest a blood sample but it is highly unlikely that we would suggest any other test at your first appointment. If other tests would be helpful, we will discuss these with you and then make arrangements for these to take place later if you would like to go ahead. Genetic testing on a blood sample is only indicated in some families so some people will not be offered a blood test.

Finally

We aim to give you information that you may find helpful in making your own decisions. We will also discuss all choices available to you but we will not tell you what we think you should do or should not do.

 

Please bring any questions or concerns with you to your appointment. Feel free to write them down if you wish.