Hereditary Cancer Testing – 5 things you should know about it!

Neethu Sheri Kurian

Content Specialist
4baseCare

Cancer is the uncontrolled proliferation of abnormal cells in the body. Cancer arises when the body’s regular regulation system is disrupted, which is caused by alterations in genes. Gene mutations are abnormal changes in the DNA of a gene, which can be a one-time event or a series of random alterations that occur throughout the course of your life. The accumulation of many mutations over many years destroys the cell’s growth regulation, allowing a normal cell to expand uncontrollably and finally become a cancer. 

Gene mutations can be either inherited (passed from parents) or acquired (acquired some time later in life). Hereditary cancers are cancers that develop as a result of inherited gene mutations. In certain families, specific gene mutations or variants have also been linked to an elevated risk of various cancers. 5–10% of cancers are hereditary or familial, meaning that a harmful mutation in one or more genes is passed down from generation to generation. In most cases, hereditary cancers are not significantly different from non-hereditary cancers. The method in which the cancers manifest in the family reveals if they are hereditary. 

Here are the 5 things you should know about hereditary cancer genetic testing: 

1. Recognizing a hereditary cancer syndrome and detecting it early 

A family history of cancer is frequently the first tool in detecting an inherited cancer syndrome. Knowing your family history enables you and your doctor to consider whether inherited cancer syndromes are a possibility. 

Here are some of the signs that you should be looking for: 

1. There have been several incidences of the same form of cancer in the family (especially if it is an uncommon or rare type of cancer) 
2. Having three or more relatives on the same side of the family with the same or similar type of cancer indicates that cancer runs in the family. 3. Early onset of cancer (cancers in children or young individuals)
3. Multiple cancer incidents: When one or more family members are diagnosed with two or more types of cancer. 
4. Cancers that develop in both of a pair of organs (like both eyes, both kidneys, or both breasts) 

The good news is that the medical profession has various methods for assisting in the management of hereditary cancer risks. 

2. Understanding how Genetic Testing can help Reduce the risk of Hereditary cancer 

Genetic testing is a form of medical examination that detects alterations in genes, chromosomes, or proteins. Genetic testing examines a person’s genes for particular hereditary variations that can have detrimental, helpful, neutral (no impact), unknown, or ambiguous consequences on cancer risk. Some harmful gene variations have been linked to an increased chance of getting cancer. 

Why is it important to go for a genetic test? 

Genetic testing is beneficial in many areas of health and can influence the medical care that you or a family member receives. Genetic testing, for example, can provide information on the type of mutation that runs in your family, which can offer his/her relatives the possibility of a reliable predictive diagnosis, proper treatment etc. 

If someone in the family has previously been diagnosed with an inherited cancer susceptibility syndrome, any family members who may have inherited the mutation should pursue genetic testing, even if they have not (yet) been diagnosed with cancer. 

Following testing, mutation carriers can be made aware of the risks they face and advised to take precautionary measures to lower their risk and avoid acquiring cancers in the future. These steps might involve surgery, medication, periodic screening, or a lifestyle adjustment. Non–mutation carriers, on the other hand, can be spared from invasive cancer screening and freed of the burden of uncertainty.

There are several types of genetic testing that are available now and speaking to a healthcare professional with genetics training could help you decide the right type of genetic test for you. 

3. Choosing to undergo genetic testing for hereditary cancers 

If you are certain that you want to proceed with genetic testing, your best next step is to speak with a healthcare professional or genetic counsellor, who will ensure that the appropriate test is ordered, assist in obtaining health insurance coverage for the test and ensure that your results are correctly interpreted. 

If you are unsure about genetic testing, speaking with a genetic counsellor can give you the information you need to make an educated decision. A counsellor will evaluate your unique situation and interests, assisting you in making the best decision possible. A genetic counsellor will not try to persuade you to undergo testing, but they will make sure you have the correct information and will lead you through the test process and procedure so you can make an informed decision. 

It is important to remember that genetic testing is a personal decision, but it is your decision. 

4. Interpreting the genetic test results are critical 

The results of genetic testing are not always simple, making them difficult to understand and explain. As a result, it is recommended that you seek the assistance of your doctor or a genetic counsellor who can explain the results to you, as there are various factors that healthcare experts examine before interpreting test results. Some of the criteria include a person’s medical history, family history, and the type of genetic test used. It is critical for patients and their families to ask questions regarding the possible significance of genetic test results both before and after the test is conducted. 

What are the possible genetic test results?

Positive: A positive genetic test result indicates that an inherited mutation was discovered in a gene (or occasionally in more than one gene) that is linked to an elevated risk of cancer. There are also chances that other family members may have acquired the same mutation. If you test positive for an inherited mutation, your lifetime risk of cancer may be higher than if you don’t have an inherited mutation. However, there are several other factors that need to be considered such as gene type, role of that gene in normal biological functioning, type of mutation and its consequences etc. 

Negative: A negative genetic test result indicates that no mutation was discovered in any of the genes included in the test panel. However, A negative genetic test might have different interpretations based on family medical history. 

Inconclusive: This signifies that the testing discovered a mutation in one or more of the genes included in the test, but it is unclear whether or not that alteration creates an increased risk of cancer. 

5. The promise of Precision medicine in hereditary cancer genetic testing 

Genetic testing is not only beneficial from a preventative and proactive standpoint, but also for people suffering from disease; there is a transition to a personalised medicine paradigm of disease modelling and targeted gene therapy, which has shown good outcomes. 

Precision medicine has the possibility of drastically changing patient care through individually customised medicines, therefore preventing illness, improving survival, and extending healthspan. 

In Conclusion, The answer to the question “Is it necessary that someone who inherits a cancer susceptibility mutation would develop cancer for sure?” The answer is a big No. 

Even if a cancer susceptibility mutation is found in a family, this does not guarantee that everyone who inherits the variant will acquire cancer. Having an inherited cancer syndrome increases your chance of acquiring cancer, but it does not guarantee that you will acquire cancer. However, because prevention is better

than cure, genetic testing for hereditary cancers can assist you in taking all necessary preventative steps to live a better and healthier life.