Originally Posted On: https://www.jscreen.org/blog/what-is-hereditary-cancer-screening

What is Hereditary Cancer Screening?

Making informed decisions about your health starts with understanding your unique genetic profile. Hereditary cancer screening is a powerful tool that can help you take control of your health journey by providing insights into your genetic predisposition to certain types of cancer.

Understanding Hereditary Cancer Screening

Hereditary cancer screening is a medical test that analyzes specific genes in your DNA to identify inherited changes (mutations) that may increase your risk of developing certain types of cancer. These genetic changes can be passed down through families, and identifying them early allows you and your healthcare providers to create personalized prevention and monitoring strategies. While approximately 5-10% of all cancers are hereditary, if you fall into this category, having this knowledge can make a significant difference in your healthcare journey and your life.

The science behind hereditary cancer screening has advanced significantly in recent years. Modern testing can analyze multiple genes simultaneously, providing a comprehensive view of your genetic profile. These tests look at specific genes known as tumor suppressors and DNA repair genes, which play important roles in preventing cancer development when functioning properly. Understanding harmful variations in these genes helps healthcare providers assess your risk levels and develop appropriate prevention strategies.

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How Hereditary Cancer Screening Works

The screening process is straightforward and begins with a simple blood or saliva sample collection. This sample is sent to a specialized laboratory where genetic experts analyze specific genes known to be associated with inherited cancer risk. The analysis focuses on identifying variations in genes that may increase cancer susceptibility.

The testing process uses advanced sequencing technology to examine your DNA in detail. Laboratory specialists look for specific changes in genes that research has shown to be associated with increased cancer risk. These could include well-known genes like BRCA1 and BRCA2, which are associated with breast and ovarian cancer risk, as well as many other genes that can affect cancer risk.

Each gene in your DNA contains instructions for making proteins. Some of these genes help control cell growth and division. When there are changes in those genes, it can affect how these proteins work. The testing process identifies these changes if present, allowing healthcare providers to assess how they will impact your cancer risk. The laboratory follows strict quality control measures and uses sophisticated computer analysis, as well as population data to ensure accurate results.

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Who Can Benefit from Hereditary Cancer Screening?

Hereditary cancer screening can be particularly valuable for individuals who:

• Have multiple family members diagnosed with the same type of cancer
• Have had multiple different types or a young diagnosis of cancer themselves
• Have family members who developed cancer at a younger age than typical
• Come from families with known hereditary cancer syndromes
• Have been diagnosed with rare cancers or cancers affecting both sides of paired organs (such as both breasts)

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The Role of Genetic Counseling

An essential component of hereditary cancer screening is genetic counseling. Professional genetic counselors are highly trained healthcare providers who specialize in medical genetics and counseling. They serve as your guide throughout the genetic testing process, helping you make informed decisions about your health.

Professional genetic counselors help you:

• Understand your family history and potential risk factors
• Understand if genetic testing is appropriate for you
• Interpret test results and what they mean for your health
• Create a personalized health management plan based on your results
• Navigate conversations with family members about genetic risk

Genetic counselors also provide emotional support and resources throughout the testing process. They understand that learning about genetic risk can be challenging, and they’re trained to help you process this information in a way that feels manageable and empowering.

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Understanding Your Results

After completing hereditary cancer screening, you’ll receive one of several possible results:

‍Positive Result: A positive result means a genetic variation associated with increased cancer risk has been identified. This information allows you and your healthcare provider to develop a proactive health management strategy.

Negative Result: A negative result indicates no known cancer-related genetic variations were found. However, it’s important to remember that genetic testing doesn’t identify all possible cancer-causing mutations, and also doesn’t necessarily mean you are not at an increased risk over the average population risk

Variant of Uncertain Significance (VUS): Sometimes, testing may identify a genetic change whose impact on cancer risk is not yet fully understood. Your genetic counselor will help you understand what this means for your health management.

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Taking Action with Your Results

Knowledge gained from hereditary cancer screening empowers you to take proactive steps for your health:

• Work with your healthcare providers to develop personalized screening schedules
• Make informed decisions about preventive measures such as prophylactic surgeries
• Share important health information with family members
• Take control of your health journey with confidence

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Privacy and Protection

It’s natural to have concerns about genetic information privacy. The Genetic Information Nondiscrimination Act (GINA) provides important protections against discrimination based on genetic information in health insurance and employment decisions.

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Making the Decision

Deciding to undergo hereditary cancer screening is a personal choice. Consider testing if you have concerns about your family history of cancer or if you meet any of the criteria mentioned above.

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Advances in Testing Technology

The field of genetic testing has seen remarkable advances in recent years. Modern screening techniques can analyze multiple genes simultaneously, making the testing process more comprehensive and efficient than ever before. These technological improvements have also made testing more accessible and affordable for many people. Additionally, ongoing research continues to identify new genetic variations associated with cancer risk, helping to provide increasingly detailed and accurate risk assessments.

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Your Next Steps

Ready to learn more about hereditary cancer screening? Speak with your healthcare provider or contact a genetic counselor to discuss whether this testing might be right for you. Taking this proactive step can provide valuable insights for your health journey and that of your family members. Remember, knowledge is power, and understanding more about your genetics can help you make informed decisions about your health care.