Genetic Testing

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What is Genetic Testing?

Genetic testing helps you to estimate your chance of developing cancer in your lifetime. It is otherwise known as DNA testing, it searches for specific changes in your genes, chromosomes, or proteins and these changes are called mutations. Genetic screening can tell you if you have a higher risk of developing cancer but it cannot specify that you will develop cancer for sure. 

If cancer runs in your family, you should consider a gene test to estimate your chances of developing cancer in your lifetime. Genetic screening are available for some types of cancers including the breast, ovaries, colon, thyroid, prostate, pancreas, kidney, stomach, sarcomas and melanomas. The following factors are possibilities for increased risk of hereditary cancer:

  • Family history of cancer. If there are 3 or more relatives in the family with the same or related forms of cancer.
  • Cancer at an early age. If there are 2 or more relatives diagnosed with cancer at an early age. 
  • Multiple cancers. If there is one relative in the family who develops 2 or more types of cancer.
  • Rare cancers. There are few types of cancer, such as ovarian cancer, adrenocortical cancer, or sarcoma, are linked to inherited genetic mutations.

What are the Types of Genetic Tests?

A genetic counselor can review with you what type of genetic screening is recommended based on your personal and family history and any earlier genetic screening you may have had. Types of genetic testing include:

  • A multi-gene panel: This type of testing allows for examining many genes at a time. Because several different genes can cause the same or related cancers, this type of testing is often recommended.
  • Site-specific testing: This type of testing may be recommended if a family member had a specific mutation identified through genetic testing.

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How is Genetic Testing Performed?

Genetic tests are performed on a sample of blood, hair, skin, or other tissue and they will be collected and sent to a lab for analysis. Before a person takes a genetic screening, it is important that they understand the benefits and limitations of the test.

  • Blood sample. A sample is taken by inserting a needle into a vein in your arm. For newborn screening tests, a blood sample is taken by pricking your baby’s heel.
  • Cheek swab. A sample from the inside of your cheek is collected for genetic testing.
  • Amniocentesis. In this prenatal genetic test, a small amount of amniotic fluid is collected for testing by inserting a thin, hollow needle through your abdominal wall and into your uterus.
  • Chorionic villus sampling. In this prenatal genetic test, a tissue sample is taken from the placenta. the sample may be taken with a tube (catheter) through your cervix or through your abdominal wall and uterus using a thin needle depending on your situation.

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What are the Benefits of Genetic Testing?

  • A negative test can provide the person with peace of mind that a harmful gene variant was not inherited.
  • A positive test result can provide the person an opportunity to understand and manage the cancer risks.
  • The results of genetic screening may help people who are already diagnosed with cancer to make decisions about their treatment better.

What is Genetic Counselling?

During genetic counselling, a genetic counsellor meets with you to:

  • Review your family history of cancer
  • Create a family tree, also known as a pedigree
  • Provide a personalized cancer risk assessment
  • Discuss whether genetic screening is recommended
  • Provide recommendations for increased cancer screening and prevention
  • Provide psychological support and follow-up

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Frequently Asked Questions:

Who should consider genetic testing for cancer risk?

People who are concerned about their risk for cancer should consult with a genetic counselor.

How long will it take to get genetic test results? 

It usually takes 2 to 4 weeks but it often takes a longer time.

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