Clinical Genetics

Clinical genetics is a medical speciality that investigates, diagnoses and offers counselling for individuals or families with, or at risk of, conditions that may have a genetic basis. It aims to provide accurate information, genetic testing and genetic counselling support to people affected by, or at risk of a genetic condition.

Conditions a clinical geneticist manages include:

• chromosomal abnormalities - cause birth defects, intellectual disability and/or reproductive problems.
• single-gene disorders - cystic fibrosis, muscular dystrophy, Huntington's disease and sickle cell disease.
• familial cancer and cancer-prone syndromes - inherited breast or colorectal cancer and neurofibromatosis.
• inherited cardiac conditions associated with sudden death
• birth defects with a genetic component - neural tube defects and cleft lip and palate
• learning difficulties associated with other problems or family history.

A clinical geneticist diagnoses and cares for families with genetic disorders.

When seeing a patient a clinical geneticist may take their patient’s clinical history, perform a physical examination, assess family tree information, carry out genetic testing, perform skin biopsies and give genetic counselling. With full patient and family information, a clinical geneticist can give you advice on the best management of genetic disorders, which genetic testing to have, your reproductive options, a risk assessment and genetic counselling for you and your family members.

A clinical geneticist will not prescribe medicines or perform surgery. Their focus is to accurately diagnose and manage a person’s genetic disorder and the impact it has on their loved ones.

Genetic counselling provides you with accurate information about the options available to you. It assists you to make decisions that are right for you. Also, counselling helps you to understand the implications of genetic testing.

You may be referred to clinical genetics if:

• You have a known genetic condition that you would like specialist advice about.
• You have a known genetic condition in your family and you want to know the risks to you and/or your children.
• You have a strong family history of cancer and you want to know if you are at increased risk and the options available to you if you are at higher risk.
• You have a possible genetic condition in the family and you or your partner are pregnant. You want to know if a diagnosis can be made and if so, what are your risks and options.
• You or your partner have an abnormal pregnancy test result. You want to talk about what the result means and your available options.
• Your child has difficulties that may be due to a genetic condition and you want to see if a diagnosis can be made.

The costs of a clinical geneticist will depend on a number of factors. These include the diagnostic tests required to make a diagnosis, your genetic condition, the extent of genetic counselling required, and your Ramsay hospital of choice

You will receive a formal quotation price for each component of your clinical genetics after your initial consultation with one of our expert clinical geneticists. This formal quote will be valid for 60 days.

Ramsay is recognised by all major medical insurers. However, there may be limitations on the clinical genetics your private health insurance covers. In many cases, health insurance plans cover the costs of genetic testing when it is recommended by a person's doctor. We advise that you check with and obtain written confirmation from your insurance provider prior to proceeding with clinical genetics.

We have a number of finance options if you are paying for your clinical genetics yourself. These include:

• Interest-free finance – 0% interest, no deposit and affordable monthly instalments.
• All-inclusive Total Care – a one-off pre-agreed payment for access to all the treatment you need for complete reassurance.
• Pay as you go – flexible funding to pay for treatment as and when costs arise. Often used if your treatment costs are difficult to assess.

Clinical genetics involves diagnosing and managing a genetic disorder. Genetic testing is usually done using a sample of your blood or saliva. If you’ve been referred because you have cancer, the test is done on a sample of your tumour that has already been removed as part of your treatment. This means that you will not need any special recovery time afterwards.

There is also no recovery process after genetic counselling. However, you may need some time to digest all the information from your genetics testing, adjust to a new diagnosis and to decide on your best course of action to live and reproduce as normally as possible.