Who can be seen at the Genetic Clinic
A wide variety of individuals are seen at genetic clinics. The following are examples of the types of conditions seen commonly at the clinic:-
- Children or adults with delayed development or learning difficulties.
- Children or adults with multiple medical problems which may be part of a recognised “syndrome”
- Individuals (usually adults) with a family history of cancer.
- Individuals with a known genetic condition inherited in their family, eg. Cystic fibrosis, muscular dystrophy, Huntington disease, Chromosome abnormality
- Couples with recurrent miscarriage or unexplained infertility
Any individual who is concerned about any aspect of their family history should, in the first instance, discuss the situation with their general practitioner, who will then be able to refer them to the genetic clinic if appropriate.
- Full name, (including ladies' maiden names).
- Date of birth.
- Date and cause of death (if appropriate).
- Diagnosis : It is helpful if you can find out the medical name of your relative's condition, or bring any medical correspondence with you.
- Hospital(s) at which your relative was treated. #
If you think another family member would remember more details of the family history, please feel free to bring them along to the appointment with you, if you wish.
If you plan to bring several relatives along to the appointment with you, it is helpful if you let us know, in order that additional time can be set aside for large families.
Common Questions at the Genetic Clinic
Depending on the reason for the consultation, some of the questions the doctor may answer are:
What is the diagnosis? Is there a name for the condition?
It is unfortunately not always possible to answer this question, but if a diagnosis is reached the doctor will be able to give you further information about the condition and its management.
What is the chance of transmitting or developing genetic disease?
Sometimes it is possible to accurately determine the risk of developing a genetic condition, and of transmitting it to your children.
Sometimes the diagnosis or likely pattern of inheritance cannot be exactly defined. In these circumstances, empirical risks or 'best guess' advice may be offered, based on previous experience of families with similar conditions.
Is there a blood test available?
Presymptomatic tests: -
For some conditions, a test is available to see whether an individual has a genetic alteration that could cause them to develop a genetic disease in the future, for example, Huntington disease.
Symptomatic tests: -
For some conditions, a test is available to see whether an individual with particular symptoms is affected by a genetic disease, for example, whether someone with muscle weakness has a muscular dystrophy.
For some conditions, a test is available to see whether an individual carries a genetic alteration which does not affect their health but could, in certain circumstances, result in their children being affected by a genetic condition, for example, cystic fibrosis.
Is there a test available in pregnancy?
The doctor or counsellor, will be able to advise you on whether it is, or is not, possible to test a pregnancy for the condition. If testing is possible they will be able to provide you with more detailed information.
Important information to bring along to your genetic appointment
It is very helpful if you can bring the following details about as many of your relatives as possible, in particular those who may have a genetic condition