If you are planning a pregnancy, genetic testing is available to identify whether you are at increased risk of having a child with a chronic illness or disability. Most people do not know they are carriers of a genetic disorder until they have an affected child - don’t let this happen to you. Preconception screening allows you to clarify whether you are a carrier and consider your reproductive options.
At The Genetic Clinic, we can discuss your options for carrier testing and arrange carrier testing based on the genetic conditions seen more commonly in your ethnic group. Common genetic conditions we can screen for include cystic fibrosis, Tay Sachs disease, muscular dystrophy, Fragile X syndrome and thalassaemia.
Expanded carrier screening is now commercially available through a number of providers, and we can help you decide which test may be right for you.
If you are planning a pregnancy, we can discuss the advantages, disadvantages, and limitations of genetic testing. You can find more information on carrier screening here.
“Routine” tests in pregnancy, such as the nuchal translucency, chorionic villus sampling (CVS) or amniocentesis can sometimes give unexpected results that can leave you feeling anxious and confused. If you would like to discuss your test results in greater detail, we can see you promptly and help you understand your results. Non-invasive prenatal testing (NIPT) is now routinely available in Australia, and we can help you understand the advantages and limitations of this new test.
CANCER FAMILY HISTORY ASSESSMENT
Most of the time, cancer occurs “out of the blue” and does not run in the family. However, in about 5% of cases, the family history of cancer may be due to an inherited gene fault that predisposes to certain types of cancer. Genetic testing may be appropriate in families with:
• A higher than average incidence of cancers
• The same types of cancers occurring in many family members
• Cancers occurring at a younger age that average
If you are concerned about your family history of cancer, we can assess your risk and discuss the advantages, disadvantages and limitations of genetic testing.
A KNOWN GENETIC CONDITION IN THE FAMILY
If your relative has been diagnosed with a genetic condition, we can discuss the implications of this for you. Testing may be available to clarify your risk of having inherited the condition or your risk of passing it onto your children.
Predictive genetic testing involves testing a healthy individual to determine whether they are likely to develop a particular condition in the future. If there is a known gene fault in your family, predictive genetic testing may be available. We commonly see people at risk of conditions such as Huntington Disease, familial cardiomyopathy, and motor neurone disease for predictive testing.
Because of the many implications of predictive genetic testing, testing through The Genetic Clinic involves multiple visits. The Genetic Clinic follows the predictive genetic testing guidelines of the Human Genetic Society of Australasia.