Genetic conditions
It can help to think of a gene as a recipe. A change in the recipe, like a change to one of the ingredients, could change the final product from the recipe.
A genetic condition can occur when a gene change affects how the gene works. Sometimes, a change will not make a noticeable difference. Other times, it could change how your body develops or works. When there is a change in a gene that affects how your body works, it can cause a genetic condition.
Changes in genes are called variants. They might also be called gene mutations or gene faults. Everyone has many variants in their genes. Most of these do not affect how a gene works. However, some variants do affect how a gene works. Sometimes a variant can cause a genetic condition or increase the chance of developing one. Scientists classify these types of variants as 'pathogenic' or 'likely pathogenic'.
There are many different types of genetic conditions. The Centre for Genetics Education has factsheets that describe some common genetic conditions in more detail.
Chances of having or developing a genetic condition
There are thousands of conditions caused by changes in genes. There are different ways that a genetic variant can cause a health condition. Variants can appear in genes in a few ways.
- Random chance.A variant can randomly appear. Usually this happens just before, during or after conception.
- Inherited.A change in DNA can be passed down (inherited) from biological parent to child. This may affect someone at birth or might mean they have an increased chance of developing a condition later in life. The change might be passed down from one or both parents. There are many inheritance patterns that can influence the way a variant is passed down to a child through DNA and the chance of having the associated condition. More information about the different types of genetic inheritance (external site).
- DNA changes over your lifetime.Some environmental factors, like exposure to the sun or your diet, might damage the DNA of certain cells. This damage can cause conditions to develop that have a genetic cause that is not inherited (for example, lung cancer).
Having a genetic variant does not always mean that you have a genetic condition. Genetic variants can provide information about:
- the chance of developing a genetic condition in the future
- the chance of your children developing a genetic condition.
Parents that are related are more likely to have children with genetic conditions, compared to parents that are not related.
Talking to a healthcare professional, such as a general practitioner (GP), genetic counsellor or clinical geneticist can help to work out:
- if you have a genetic condition
- if you have an increased chance of developing a genetic condition
- the chance of current or future children having a genetic condition.
Finding out if you, or your child, has a genetic condition
You will need to see a healthcare professional to find out if you or your child has a genetic condition. Usually this is a genetics appointment with a genetic counsellor or clinical geneticist. During a genetics appointment you will discuss and review your medical and family history. This helps to assess the chance of having or developing a genetic condition.
A healthcare professional might recommend having a genetic or genomic test. A genetic or genomic test can:
- confirm or rule out a suspected genetic condition
- assess the chance of developing a condition in the future
- assess the chance of passing on a genetic condition to current or future children.
There are many different types of genetic and genomic tests. Whether a test is recommended will depend on your personal circumstances.
Support for your genetic condition
Receiving a diagnosis of a genetic condition can bring up many emotions. There are plenty of support options available.
There is lots of information and support available online, whether you are looking for support for yourself or for information about how to support someone else, such as a child or someone you are caring for.
If you are not sure where to start, you can talk to your GP or health professional.
Support groups
There are lots of different support groups available for people with a genetic condition, or for those caring for someone with a genetic condition.
Mental and emotional support
If you feel concerned or distressed at any stage, or need extra support, talk to your health professionals. There are other groups available to provide support.
- WA Helping Minds
Provides free mental health education, services, and carer support across WA
(08) 9427 7100
- Lifeline Australia 24/7 crisis support
Provides free 24-hour telephone and online crisis support across Australia
13 11 14
- Beyond Blue
Provides mental health information and support over the phone and online
1300 224 636
- 13YARN
Provides free telephone support from an Aboriginal or Torres Strait Islander Crisis Supporter
13 YARN (13 92 76)
Acknowledgements
Office of Population Health Genomics
This publication is provided for education and information purposes only. It is not a substitute for professional medical care. Information about a therapy, service, product or treatment does not imply endorsement and is not intended to replace advice from your healthcare professional. Readers should note that over time currency and completeness of the information may change. All users should seek advice from a qualified healthcare professional for a diagnosis and answers to their medical questions.