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Resources for participants

This section gives information to participants in Melbourne Genomics Health Alliance's clinical projects.

Download a copy of our patient guide

Melbourne Genomics has created a guide for patients receiving sequencing for genetic conditions through the Alliance. To download a copy, click here

Questions you might have

What is a genomic test?

Your ‘genome’ is your complete set of DNA, including all of your genes. DNA is a chemical and all your genes are made of it. Each gene has a specific function. When a gene contains a variation or change, it may not work properly and this may affect your health. The effects depend on which specific gene isn’t working properly (for more on this, see About genomics).

A genetic test usually looks at one or a small number of genes at a time. A genomic test is a new type of test that can capture information from all genes from your genome at the same time, which means we may have a better chance of finding gene changes causing or associated with your condition.

How will my genomic test be done?

Genomic tests usually involve taking a simple blood sample. The sample will then go to a diagnostic lab where your DNA will be ‘extracted’ (or taken) from your blood cells. Your DNA will be ‘sequenced’ and then compared to sequences from other people to look for possible changes or ‘variations’ in your genes.

The variants found in your genome are examined to see if any may explain your medical condition and/or suggest the most effective treatment and management for your condition.

The first step is to establish whether a variant or change in a gene will stop it working properly. To do this, specialists examine each variant using information from large gene variant databases and existing scientific research.

Then, a team of experts, including medical laboratory scientists, bioinformaticians (computer specialists who deal with biological data), doctors and geneticists, match this list of variants which may impair gene function against your health and family medical history. This is how they determine if a particular variant is likely to be the underlying cause of a genetic condition you might have. Or in other cases, whether a variant might have an effect on how you may respond to particular treatments.

How long do genomic tests take?

Genomic testing is very complex and requires the work of numerous experts. Currently, the process of sequencing and analysis takes up to six months. We are hopeful, however, that this timeframe will reduce as genomic sequencing is integrated into routine clinical care.

How will I get the results?

Your genomic sequencing test results will be given to the doctor responsible for your usual care and they will discuss with you any information of relevance to your health.

The results will not comprise your entire genomic sequence. Alliance investigators only focus on variations in those genes that might be relevant to your particular health condition.

What do my results mean?

Your doctor or specialist will discuss your results with you. Everyone has thousands of variants in their genome and most of these cause no problem. It is only when a variant is known to be linked to a health problem that action might need to be taken. Your doctor will confirm any relevant variants identified before using the information in your clinical care. You should feel free to ask your doctor any questions you might have about your results.

What if nothing significant was found in my genomic data?

When your genomic data is examined, only the genes thought to be potentially relevant to your condition are looked at. If nothing unusual is found, it doesn’t necessarily mean your condition isn’t genetic. You may have changes in genes that were not investigated because these genes are not currently known to be involved in your condition.

What if something additional was found in my genomic data – something not relevant to my condition?

Very occasionally, when genomic data is examined, a variant unrelated to your condition is identified. This is called an ‘additional' or 'incidental'  finding, and would be communicated to your doctor. These findings are very rare.

How confident can I be in the results?

If any gene variants are identified which might be relevant to your health, your doctor may request a second test to confirm the results before using them in your care.

Will my data be confidential?

Absolutely. By law, a patient’s medical data must be kept confidential.

How are Melbourne Genomics’ projects regulated or controlled?

The Melbourne Genomics Health Alliance operates under the governance of a Board comprised of senior directors from the Alliance partner organisations. An Executive Management Committee is guiding the current program of work, and a Community Advisory Group ensures that the views, wishes and concerns of community and patient groups are served.

All clinical research in Australia is conducted according to strict codes of conduct and ethical standards. Every study is reviewed by an independent ethics committee before commencement, and thereafter is subject to annual ethics reviews.

For more information, see the National Statement on Ethical Conduct in Human Research and the Australian Code for Responsible Conduct of Research.

Is there support available?

Genetic counselling can be obtained if you have a referral from your GP to a specialist genetic clinic.

The Genetic Support Network Victoria provides a list of support groups for you to contact.

What is genetic counselling?

Genetic counsellors can help you and your family understand the genetic basis of a condition you might have, and adapt to the psychological implications of that condition. They can also help you understand what the condition might mean for family planning and potential implications for other family members.

In genetic terms, what does being a ‘carrier’ mean?

You normally have two copies of every gene: one inherited from your mother, one from your father. For some genetic diseases or conditions, there is no impact on your health if only one copy of the gene is altered - because you have a ‘back-up’, unaltered copy of the gene that can perform the gene's usual role in the body.

People who ‘carry’ one changed copy of a gene but have no disease, due to their other unaltered copy, are termed ‘carriers’. This means that if they have children with another 'carrier', these children will have a 1-in-4 chance of inheriting the altered copy from both parents. If both copies of the gene are altered, then the child would have the genetic condition associated with that gene change.

However, in other genetic conditions, both copies of a particular gene are needed in order for the body to work properly. In this case, even if you have only one altered copy of the gene, you will still develop that genetic disease.