TYAResearch:
Genomics
FAQs Genomics
All the questions below were developed focus group discussions with our TYA group.
What’s genomics?
Genomics is the study of a complete genome.
All living things have a genome which is made up of DNA. DNA contains all the information and instructions to build and repair our bodies.
Cancer genetics focuses on individual genes or regions of DNA (a very small specific region of the genome) thought to be involved in cancer.
Cancer genomics focuses on the all the genes (the genome) and can provide a lot of complex information to study.
Genomics is not just about cancer.
It is the scientific study of complicated diseases such as heart disease, asthma, diabetes which are usually caused more by a combination of genetics and the environmental (things happening outside our bodies such as smoke, diet, chemicals etc).
The main types of genes in cancer are:
- Tumour suppressor genes: these normally slow or stop cells from dividing. When a tumour suppressor gene is turned on or doesn’t work properly cells can grow out of control and cause cancer
- Oncogenes: normally called proto-oncogenes which help our cells grow, divide, and stay alive. If a proto-oncogene is turned on it when it is not supposed to it becomes an oncogene and can allow cancer to grow and spread.
- DNA repair genes: when cells divide, they need to make a copy of themselves, but sometimes mistakes are made. DNA repair genes fix or repair these genes. If something is wrong with a DNA repair gene it can allow mistakes to build up and cause cells to grow out of control.
Scientists estimate that majority (90%) are caused by chance and about 5-10% are caused from those we are already born with.
A mutation is any change in the DNA sequence of a cell.
Mutations can be caused when our cells are growing and dividing. Mutations can be harmful, beneficial, or have no effect. Mutations are also called variants.
This is called deoxyribonucleic acid.
DNA is in every cell in your body and is unique to you. It is like an instruction manual for making all the proteins that form our bodies and help them thrive.
Why would I have genomic testing?
You might be referred to genetics to discuss if testing would be suitable for you, to understand your cancer in more detail and inform treatment options which may be helpful.
This will depend on your cancer type, and any treatment you may already be having.
Your nurses and doctors will discuss the best option and time with you.
Looking at your genomic information will help decide the best treatment plan for you.
Cancer genomics can help us learn more about your specific cancer and help us understand how it is behaving.
It also helps us decide on what therapies or drugs could be useful or which therapies that would not be useful too.
Genomics can tell us lots of useful information about certain conditions including infections, diseases, and certain cancers.
It can help track spread and help with development of new drugs, treatments, and vaccinations.
Genetics allows us to focus on specific genes (and small sections of DNA).
This allows treatment to be focused or targeted to specific areas and types of cells known to be contributing to a particular cancer type.
No.
Although genetic testing is becoming more common, some cancers may not require genetic testing as other methods may exist which provide information to help decide the best treatment that may help manage cancer.
Genetic counsellors are specially trained to discuss your genetic results.
Genetic counsellors will work closely you, the testing laboratory, scientists analysing your data and your doctors. This will help plan out your next steps, any other testing required and make sure you have all the correct support, consent and information needed.
Genomics can help provide lots of information on your genes and cancer and which treatments may be useful.
What do I have to do?
Taking part usually involves reading through the information given to you by your doctors and nurses.
They will discuss all steps, any forms you may need to sign and any sample you might need to provide.
No. Even if you agree to take part, you can also change your mind. Your nurses and doctors will talk to you about this in detail.
No. Taking part cancer research testing is your choice and your doctors and nurses will support you with your decision.
Learning about your cancer can help scientists build more information on how cancers are behaving and how best to treat them.
Looking at your genomic information can help scientists and doctors learn new things about how cancers are behaving.
This can help other people like you to get the best possible treatment too.
A lot of your sample will be used for the genomic test.
The rest of the sample is stored with your permission, usually in a cold freezer. This means it could be used again for other tests which may be available in the future.
Dependant on where the cancer is located, it is sometimes better to take a sample or biopsy from this location.
It can tell scientists and doctors interesting information about a specific or suspected cancer.
Everyone has genomic changes happening in their bodies.
These can start from when a baby begins to grow and continue as we age. They may also be caused by the environment such as chemicals and certain drugs.
Other bits you might like to know.
Getting a suitable sample can be challenging depending on where the cancer is located.
However, lots of recent advances have improved which samples can be used, some as simple as blood or saliva.
Cancer genomics requires specialists to understand and provide results back to your doctor.
Occasionally the time to receive a genomic result can be longer dependant on the sample type, the test type and cancer type.
Lots of genomic data is generated from testing and this all needs stored somewhere both securely and in a place that allows large volumes of information to be stored and analysed easily. You can speak with your caregivers to understand this in more detail.
Cancer testing today can be very accurate.
Each test offered by laboratories has very specific quality management and only tests which are known to be very accurate are used. Only specially trained healthcare laboratory teams and scientists can perform this testing, which is also checked by other scientists before it goes back to your doctor. All information on testing is included in your doctor’s report provided by the laboratory, and all this information can also be provided before testing too.
This will depend on the test chosen.
Even though you can sequence a whole genome, this may not have to happen. Some tests may only be of very few genes (genetic test or a small panel as the scientists call it) where other tests for example might look at lots of regions of your genome and take longer for scientists to perform the test which then must be analysed and all the information sent back to your doctor. This could range from a few days to a few weeks.
We can look at all of your genetic information at the same time and understand more about your cancer and which treatment might be useful.
Sequencing a genome is not always a quick test as there are lots of steps in the laboratory needed to sequence a genome. There is a lot of information to look at and scientists do not yet understand what it all means. All the information can be stored and looked at again at any time if needed.
A sample such as blood or a small piece of the cancer is taken by a specially trained nurse or doctor.
In a laboratory scientists can remove the DNA from the sample. Special technology can read the DNA sequence and with the help of computers the DNA can be analysed on a screen to look for specific changes or mutations.
