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What is a Genomic Clinic?
Medical conditions that run in families are known as genetic conditions or hereditary conditions. A Genomic Clinic provides diagnostic services and genetic counselling to individuals or families with, or at risk of, conditions which may have a genetic basis. Genetic disorders can affect any body system and any age group. More than 10,000 different genetic conditions can be passed on through generations. The aim of genetic services is to help those affected by, or at risk of, a genetic disorder, to live and reproduce as normally as possible. Genetic disorders include:
- Familial cancer and hereditary cancer syndromes such as inherited breast or colorectal cancer and neuro bromatosis
- Chromosomal abnormalities, which cause birth defects, intellectual disability and/or reproductive problems
- Single gene disorders such as thalassemia, muscular dystrophy, Huntington's disease and sickle cell disease
- Birth defects with a genetic component such as neural tube defects and cleft lip and palate
What is genetic counselling?
Genetic counselling is a process by which a genetic counsellor provides information and support to individuals and families with a genetic condition. A genetic counsellor assesses the risk of an inherited condition by looking at a detailed medical and family history. If the individual or a family member is at risk of a genetic condition, the genetic counsellor helps them understand the genetic basis of the condition, the genetic testing options, and appropriate management for those affected with condition. A genetic counsellor helps people weigh options and make informed decisions that are in their, and their families' best interests.
Why might someone need genetic counselling?
- They might be concerned about a genetic condition in their family and want specialist advice
- They might be at risk of a genetic condition that has already been diagnosed in the family
- Children with some problems that are not quite straightforward may be referred for clari cation of the situation
- Pregnant woman may be referred to discuss an abnormal test result and understand their options
- A woman who is pregnant at age 35 years or older
- An individual with a genetic condition planning a family may want to know the risks to their future children and understand the options available to them
How does a genetic counsellor help?
A genetic counsellor might be able to provide information on matters such as:
- Risk of a genetic condition in a family
- Making or con rming a diagnosis
- Information about the condition and how it is passed on
- Individual’s risk based on family history and their options available
- Chances of the condition being passed on to your children and any options available for future pregnancies
- Ways to cope with the situation
What happens when you see a genetic counsellor?
Duration of a consultation may vary between 45 and 60 minutes. The process includes the following stages:
- Risk Assessment: A detailed family and medical history is taken to evaluate the possibility of genetic condition. Sometimes further information is required in order to reach a conclusion.
- Education: If a genetic condition is suspected, the genetic counsellor will provide information about the condition such as inheritance, individual risk, risk to family members, options for genetic testing and management of the condition.
- Counselling: The genetic counsellor will then assist individuals in the decision making process by discussing the advantages and disadvantages of testing for that particular condition and the psychosocial aspects of genetic testing. A genetic test result can have a huge impact on individuals and their family members. Therefore it is important to go through counselling, in order to make well-informed decisions.
- Support: The genetic counsellor helps individuals and their family members adapt to the risks of the condition and cope with any dif culties, anxiety, stress or complexities. Genetic counselling is provided for a variety of areas including: