Female Scientist in White Lab Coat Using a Microscope and doing genetic testing for cancer.

Genetic Testing for Cancer, Explained

Female Scientist in White Lab Coat Using a Microscope and doing genetic testing for cancer.

Cancer is a deadly disease that affects millions of people around the world. In recent years, advances in genetics have revolutionized the way we approach cancer, allowing for the development of genetic testing for the disease. 

Genetic testing for cancer is an invaluable tool for helping to diagnose and treat cancer in its early stages, as well as to identify individuals who are at risk of developing the disease. By examining an individual’s genetic makeup, doctors can identify any inherited risk factors that may contribute to their chances of developing cancer.

What is Genetic Testing?

Genetic testing is a type of medical test that can identify changes in chromosomes, genes, or proteins. It looks at a person’s genetic material to determine whether they are at risk for developing or passing on certain diseases or conditions. Genetic testing can be used to determine if a person has inherited a certain gene from their parents, as well as any changes to that gene that could cause health problems.

Types of Genetic Tests:

  • Diagnostic tests: These tests are used to help diagnose a genetic condition or inherited disorder. They involve taking a tissue sample, such as blood or saliva, and analyzing it for specific genetic markers that indicate the presence of a certain condition.
  • Carrier tests: These tests are used to determine whether a person carries a certain gene that may cause an inherited disorder but does not necessarily have the disorder themselves.
  • Predictive and pre-symptomatic tests: These tests are used to determine if a person will develop a genetic condition or inherited disorder in the future.

The first step in genetic testing is for the doctor to take a detailed family history to determine if any inherited genetic disorders are possible. This will help the doctor decide which type of test is needed.

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Benefits of Genetic Testing

Two women sitting next to each other and smiling in support of cancer while one of them has a white scarf with black dots over her bald head.Genetic testing can provide individuals with invaluable information regarding their risk of developing certain types of cancer. Genetic testing can identify mutations in specific genes that can be associated with higher risks for various types of cancer, such as breast, ovarian, and colorectal cancer. Knowing if a person has a mutation associated with increased cancer risk can allow them to make lifestyle changes or start preventive treatments to help lower their risk.

Early detection is key to successful cancer treatment, and genetic testing can help identify individuals at high risk before symptoms even appear. For example, those with mutations in the BRCA1 or BRCA2 gene are at an increased risk for breast cancer. If a woman knows that she has this mutation, she may choose to begin more frequent genetic testing for breast cancer or take steps to reduce her risk.

Genetic testing can also play a role in personalized cancer treatment plans. Doctors may use the results of genetic tests to identify which cancer treatments will work best for a particular patient. For example, if a patient has a genetic mutation associated with a particular type of cancer, doctors can tailor treatments specifically to target that mutation, potentially increasing the effectiveness of the treatment.

Limitations of Genetic Testing

Genetic testing has become increasingly commonplace in medical diagnostics, but it is not without its limitations. False positives and false negatives are two of the biggest concerns associated with this type of testing. A false positive result may lead to unnecessary treatments or procedures, while a false negative may delay or prevent proper diagnosis or treatment.

False positives and false negatives can occur in genetic cancer tests.

  • A false positive occurs when the test result incorrectly indicates that a person carries a gene mutation associated with cancer, even though they do not have the mutation.
  • A false negative occurs when the test result incorrectly indicates that a person does not carry the gene mutation associated with cancer, even though they do have the mutation.

In either case, the incorrect results can have serious implications for the patient’s health and well-being.

It is also important to consider the emotional impact of genetic testing. Receiving a positive result can cause fear and anxiety, while a negative result may lead to feelings of relief or disappointment. In either case, it is important to discuss the results with a qualified healthcare professional and take steps to ensure that any necessary follow-up care is received.

Who should consider Genetic Testing?

A woman cancer survivor in gray knit sweater holding her white smartphone while laying in bed and taking IV therapy. Genetic testing for cancer can be a beneficial tool for those at an increased risk of developing the disease. This type of testing is most beneficial for individuals with a family history of cancer (hereditary cancer test), individuals with certain types of cancer, and individuals with specific genetic mutations.

Individuals with a family history of cancer are likely to benefit from genetic testing. If there is a strong pattern of cancer in the family, genetic testing can help to determine if the individual carries any genetic mutations associated with an increased risk of developing the disease.

Individuals with certain types of cancer may also consider genetic testing. Testing can be used to detect additional genetic changes that may have caused or contributed to the disease. Genetic testing may also help inform the treatment plan and provide additional insight into the individual’s prognosis.

Overall, genetic testing can be useful for those at an increased risk of developing cancer. Individuals with a family history of cancer, certain types of cancer, or specific genetic mutations should consider genetic testing as a possible option.


Genetic testing is an important tool in understanding and managing your cancer risk. It can help identify whether you have certain inherited gene mutations that increase your risk of developing certain types of cancer. Genetic testing can also be used to help diagnose cancer in some cases, inform treatment decisions, and understand your risk of recurrence or pass on cancer-related genes to your children.

While genetic testing may sound daunting, it has become much more accessible over the years and is covered by many insurance plans. It’s important to speak with your healthcare provider about whether genetic testing could be beneficial for you and your family.

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Lab Testing - Frequently Asked Questions

Why is it important to do lab tests occasionally?

It is important to do lab tests occasionally because they can provide valuable information about an individual's health and help to identify potential health issues early on. Lab tests can measure a wide range of factors, including blood count, cholesterol levels, liver and kidney function, and hormone levels, and can provide insight into an individual's overall health and wellness. Additionally, lab tests can help to diagnose and monitor the progression of certain medical conditions, such as diabetes and heart disease, and can help to identify any potential health risks or concerns. By doing lab tests occasionally, individuals can take proactive steps to maintain their health and wellbeing and reduce the risk of potential health problems in the future.

What does a routine blood test cover?

A routine blood test is used to check for a range of things, including your blood count and the levels of certain chemicals and substances in your blood. Blood tests can also be used to check how well certain organs, such as your liver and kidneys, are functioning.

How is a blood sample collected for lab testing?

A blood sample for lab testing is typically collected through a process called venipuncture, which involves inserting a small needle into a vein to draw blood. This is usually done on the inside of the elbow or the back of the hand.

What is the cost of a lab test?

In general, the cost of a lab test can range from a few dollars to several hundred dollars. It is always best to consult with your doctor or healthcare provider to get an accurate estimate of the cost of a lab test.

Read More: Lab Testing FAQ