Everyone knows about how the Hollywood star, Angelina Jolie's underwent a preventive double mastectomy after testing positive for a BRCA1 gene mutation. This celeb story spurred demand for genetic testing, especially to identify the risk of chronic illnesses such as cancer. Even before this story could fuel momentum for genetic testing worldwide, the success of the human genome project had completely changed the way humans could dissect the DNA, giving rise to many scientific breakthroughs.
Genetic cancer testing is one such breakthrough that has played a very crucial role in estimating a person’s chance of developing cancer in their lifetime. It does this by observing specific changes in genes, chromosomes, or proteins - these changes are called ‘genetic mutations’.
For instance, in a family that is predisposed to developing a certain kind of Colon Cancer or any other factors that can cause cancer, genetic screening can help identify this risk. Therefore, genetic screening is said to be effective in understanding causes and risks of childhood Cancers.
Genetic testing is a process that looks for alterations in genes, either in normal tissue or cancerous tissue. Alterations in normal tissue may identify children who would benefit from cancer screening and may inform individually tailored treatment. Alterations, or mutations, in tumour tissues may provide clues to the cancer’s behaviour and help physicians design a treatment program with the greatest chance of success.
What are the benefits of genetic cancer testing in kids?
There are two types of genetic testing that are done--Germline and Somatic. Germline testing can indicate whether an individual has a heightened risk for developing certain types of cancers. Somatic testing may reveal some of the mutations that are driving the growth of the cancer and may be targeted by advanced therapies.
Both can help in the following:
Parents can start cancer screening tests earlier
Can guide screening for certain kind of cancers
Helps in keeping a close watch for signs or symptoms of cancer
Learn about options to help reduce the risk of certain types of cancer
When is the best time to conduct genetic testing for kids?
While pre-natal screening is still controversial in India and is strongly governed by law. Your doctor might recommend genetic testing if you have a family history of a genetic disease such as cancer, or if your child has symptoms of a condition that has been associated with a genetic disorder. It is always best to consult your doctor before deciding to go in for genetic screening.
Are there any risks?
Generally, genetic tests have little to no physical risk. All it takes is blood and cheek swabs. However, prenatal testing such as Amniocentesis or Chorionic Villus sampling has a small risk of pregnancy loss (miscarriage). Therefore, it is also advisable to check with your doctor for the same. Apart from this, genetic testing can have emotional, social and financial risks as well. Once people know that their kids may hold some risk of developing cancer, it may lead to constant fear and anxiety. Moreover, these tests are quite expensive and so only when there is a history of ailments or certain risk factor only then should parents opt for genetic testing.
(The writer is the HOD-Surgical Oncology at a hospital in Kalyan, Maharashtra)