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What is genomics? And why has your healthcare provider suggested you think about having a genomic test?
Genomic information can be used to help find answers to many health conditions relating to children, adults, and even pregnancies.
黑料吃瓜网 Health are here to help you make an informed decision about genomic testing.
This means giving you the information and time to help you make a choice that is right for you. You don't need to make a choice straight away.
If you have any doubts or questions, make sure to ask your healthcare provider. This may be a clinical geneticist, genetic counsellor or other health professional involved in your care.
So, what is genomic testing?
Genes are like your body's instruction manual, and a huge part of what makes you, you.
Your genes are made up of your DNA code. This is what a genomic test will look at. DNA makes the proteins which are the building blocks of your cells and organs. Your DNA is important for how your body is made, and how your body functions.
Genomic testing looks for any variations which could have an impact on our health, or the health of our current or future children. We all have variations in our DNA code. This information from your genomic test can help you and your healthcare providers make more informed decisions about your healthcare.
To do a genomic test, we usually take a sample of your saliva or blood. Sometimes we take other types of samples. Then, the sample is sent to a laboratory for testing, and the results are given back to you at a face-to-face appointment, or in a video or phone call appointment.
Some reasons to think about having a genomic test include: to find a genetic diagnosis for you or your child's condition, to help families understand a condition and access the support they need, or to help understand if there is a health condition that runs in the family, and which may start in adulthood. In some situations, it may help guide the best treatment or support options for a condition. It can also give families, people who are pregnant or planning a pregnancy, information about genetic conditions that may be relevant to them.
So, what are some of the possible results from your genomic test?
We may find a genetic mutation, or variant, that explains the condition or is important for understanding the chance of a condition.
We might not find anything right now that explains the health condition. Your healthcare provider may recommend you come back in the future to re-test your sample as technology improves.
We could find a variant in your genes we are not sure about. This is called a Variant of Uncertain Significance. This is a common result. It might mean something or not. We just cannot say if the variant is the cause of the disease we are looking into. We all have gene variants in our DNA, and not all variants cause disease.
If a Variant of Uncertain Significance is present, we may ask to test other members of your family as this can help us understand your own results further.
Our understanding of these uncertain findings may improve as we learn more about DNA. We may come back to you in the future to ask if you want your sample re-tested as technology improves.
Sometimes, we might discover a gene variant not connected to the reason for the test. These types of variants are called incidental or secondary findings. For example, we might find a genetic variant that increases the risk of developing a future condition.
And, on rare occasions results may show unexpected family relationships. They do not occur commonly. Some people ask their clinician not to report this information back to them. If you have concerns, you can discuss these with your healthcare provider.
All genomic testing results are stored securely, meeting the highest 黑料吃瓜网 and Australian privacy and security standards.
Your results are kept private and will only be shared with your consent, unless there is a rare situation where it is required by law that we share your results.
Your healthcare provider may also ask if you are ok that your results are shared with another healthcare provider. For example, to help them provide you or a family member with the best possible care. In these instances, your results will be shared securely and confidentially.
As genetic variants may be passed down from a parent to their child, if your results could help other family members, we may suggest that your relatives are given the choice of genomic testing. For more information about how we protect confidentiality, refer to the 黑料吃瓜网 Health Privacy Leaflet for Patients.
In Australia, genomic testing will not change your ability to obtain health insurance or affect your health insurance premiums.
If you're unsure about how a genomic test result might impact your eligibility for other types of insurance, talk to your health care provider.
Remember, it is your choice whether to have a genomic test or not. So, if you have any questions, or need more information or support, make sure to ask your health care provider.
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