Genetic Testing

Genes are pieces of DNA (deoxyribonucleic acid) inside our cells that help the cells to function. Changes in these DNA’s causes cancer.

  • What is Genetic Testing?
  • Who should do genetic testing?
  • Molecular Profiling
  • Benefits of Genetic Testing
  • Limitations and Risks of Genetic testing

What is Genetic Testing?

Genetic changes are called Mutations which cause a cell to make (or not make) proteins that affect how the cells grow and divide into new cells. Some mutations can cause cells to grow out of control, which can lead to cancer. Still, only about 5 - 10% of all cancers are thought to be strongly related to an inherited gene mutation.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine chances of developing or passing on a genetic disorder.

Predicted genetic testing is a type of testing used to look for hereditary gene mutations that might put an individual at higher risk of getting certain kinds of cancer.

Who should do genetic testing?

  • Anyone with a strong family history of certain types of cancer, to see if they carry a gene mutation that increases their risk. If they do have an inherited mutation, they might want to have tests to look for cancer early, or even take steps to lower their risk.

  • Anyone who has several first-degree relatives (mother, father, sisters, brothers, children) diagnosed with cancer or many relatives on one side of the family who have had the same type of cancer.

  • Anyone who has a cluster of cancers in their family that are known to be linked to a single gene mutation (e.g. family history of breast, ovarian and pancreatic cancer).

  • Anyone who has a family member with more than one type of cancer.

  • Anyone already diagnosed or has a family member diagnosed with cancer at an early age; especially if the age group is younger than normal for that cancer type.

  • Anyone who has close relatives with cancers that are linked to rare hereditary cancer syndromes.

  • Anyone with a family member having a rare cancer, such as breast cancer in a male or retinoblastoma.

  • Anyone who has a physical finding that’s linked to an inherited cancer (e.g. multiple colon polyps).

  • Anyone who has known genetic mutation in one or more family members who have already had genetic testing.

  • Family members who have a known risk of inherited gene mutation that increases their cancer risk.

Molecular Profiling

Molecular profiling takes genetic testing to the next level. Gene expression profiling is the measurement of the activity of thousands of genes at once, to create a global picture of cellular function.

Molecular profiling can be achieved by using a blood test or Solid/Liquid biopsy. This test would examine the DNA of cancer, and look for genetic mutations attained by those cells.

Benefits of Genetic Testing

  • It allows consultants to deliver targeted therapies and immunotherapies to help streamline patient care.

  • It allows oncologists a tremendous amount of predictive, prognostic and therapeutic information early in a person’s cancer journey.

  • It allows to identify eligible patients for early and late-stage clinical trials.

Limitations and Risks of Genetic testing

  • Undergoing genetic testing and waiting for its results may cause anxiety, fear and relief. You need to think about possible effects for you and your family if you were to receive either good or bad news.

  • If genetic testing confirms a diagnosis there may be no intervention or treatment available currently. You would need to discuss this further with your oncologist.

  • Some genetic mutations are very difficult to find with current laboratory techniques and hence it does not mean that there is no change genetically. Please discuss this further with your oncologist.

  • Please be aware that genetic testing may reveal genetic information about other family members, in particular their genetic risk of a condition; as genetic mutations are often passed down through families.

It is very important that you are very sure about your decision to undergo genetic testing and have discussed this with your family, oncologist, genetic counsellor or another trained healthcare professional.

Please contact us if you need any more information or are interested to do genetic testing.

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