What is Hereditary Cancer Testing? How Genetic Screening Can Help You Understand Your Risk?

Hereditary cancer testing is a type of genetic screening designed to identify inherited genetic mutations (faulty copies of genes or variants) that may increase an individual’s risk of developing certain types of cancers. These mutations, which are passed down through families, should be detected as early as possible. Early detection of cancer causing genes (Oncogenes) helps in cancer prevention and means of adopting early treatment strategies. Understanding genetic predisposition through genetic cancer screening enables personalised health planning and empowers proactive decision-making. ¹ ²

Hereditary Cancer Testing and Its Importance

Hereditary cancer testing focuses on identifying mutations in cancer causing genes, such as BRCA1, BRCA2, PIK3CA or TP53, which are associated with elevated cancer risks. Approximately 5-10% of all cancers are hereditary, meaning they result from inherited mutations from one generation to another.

The importance of hereditary cancer testing lies in its ability to:

Detect cancer risk before symptoms appear.
Inform personalised screening and prevention strategies.
Enable early diagnosis, which can improve survival rates.
Offer insights for family members (blood relatives or 1st degree relatives, namely, brothers, sisters, father, mother, daughters, sons) who may also carry genetic risks. ¹ ² ³ ¹⁰

Importance of Family History of Cancer in Determining Genetic Risk

A family history of cancer is a critical factor in assessing genetic risk. Patterns of early-onset cancers, multiple family members with cancer, or rare cancer types in the family may indicate an inherited genetic mutation.

Clinicians use family history to identify individuals who could benefit from genetic cancer screening. For example, families with a history of breast, ovarian, or colorectal cancer may be candidates for testing specific genetic mutations like those in BRCA1 and BRCA2 or MLH1 genes. ⁴ ⁵

Process of Hereditary Cancer Testing

The process involves several steps:

Pre-Test Genetic Counseling: Patients meet with a genetic counsellor to discuss their family history of cancer, the scope of the test, and the potential implications of the results.
Sample Collection: Testing typically requires a blood or saliva sample, which is analysed in specialised laboratories using advanced techniques like next-generation sequencing.
Result Interpretation: Genetic counsellors help interpret the results, which could indicate the following:

Positive: A pathogenic mutation is present.
Negative: No mutation is identified.
Variants of uncertain significance (VUS): A genetic change with unclear clinical relevance.

Post-Test Counseling: Recommendations for screening, lifestyle changes, or preventive measures are provided based on the findings. ² ⁶

Benefits of Genetic Cancer Screening

Genetic cancer screening offers numerous advantages:

Risk Assessment: Identifies individuals at high risk of developing cancer.
Early detection: Helps to increase chances of a successful outcome.

Personalised Prevention: Enables tailored surveillance, such as earlier or more frequent screenings.
Family Planning: Assists in reproductive decisions and informs relatives of potential risks.
Targeted Therapies: Patients with specific genetic mutations, such as BRCA-related cancers, may benefit from targeted treatments like PARP inhibitors. ¹ ⁶ ⁷

Who Should Consider Hereditary Cancer Testing?

Individuals should consider hereditary cancer testing if they:

Have a strong family history of cancer, especially breast, ovarian, or colorectal cancer.
They were diagnosed with cancer at an unusually young age.
Have rare cancers, such as male breast cancer, brain cancers, blood cancers etc.
Belong to populations with higher genetic predispositions, such as Ashkenazi Jewish ancestry.

Healthcare providers often recommend testing alongside Genetic Counseling, ensuring patients fully understand the genetic test results and their implications to their family members. ¹ ²

Conclusion

Hereditary cancer testing plays a vital role in identifying genetic risks associated with cancer, empowering individuals to make informed health decisions. By evaluating family history of cancer and undergoing genetic cancer screening, individuals can adopt preventive measures, opt for targeted treatments, and improve overall outcomes.

For those at risk, Genetic Testing and Cancer Genetic Counseling offer invaluable support in navigating these complex decisions.

MedGenome stands out for its robust hereditary cancer testing and genetic cancer screening solutions. By combining cutting-edge technology, expert Genetic Counseling, and a patient-centred approach, MedGenome helps individuals understand and manage their cancer risks effectively.

Why choose MedGenome for Hereditary Cancer Testing?

State-of-the-Art Technology: MedGenome employs next-generation sequencing (NGS) to analyse a wide range of cancer-associated genes with high accuracy and sensitivity. This ensures precise detection of mutations linked to cancers such as breast, ovarian, colorectal, and pancreatic cancers.
Comprehensive Genetic Panels: Their hereditary cancer test covers key genes like BRCA1, BRCA2, MLH1, and TP53, among others. This broad scope ensures no critical genetic risks are overlooked.
Integrated Genetic Counseling: MedGenome provides Genetic Counseling services alongside testing. Patients receive professional guidance to understand their genetic test results, assess implications, and take preventive or therapeutic actions.
Focus on Family Health: MedGenome emphasises assessing the family history of cancer, offering tailored testing options for families with a significant cancer burden.
Accessibility and Affordability: MedGenome is committed to making genetic cancer screening accessible to a diverse population by offering cost-effective solutions and streamlined processes. ⁸ ⁹

References:

1 Professional, C. C. M. (2024b, November 12). Genetic Testing for Cancer Risk. Cleveland Clinic. https://my.clevelandclinic.org/health/diagnostics/23972-genetic-testing-cancer-risk

2 Genetic Testing Fact Sheet. (2024, April 18). Cancer.gov. https://www.cancer.gov/about-cancer/causes-prevention/genetics/genetic-testing-fact-sheet

3 Cancer Genetics Overview (PDQ®). (2024, August 23). Cancer.gov. https://www.cancer.gov/publications/pdq/information-summaries/genetics/overview-hp-pdq

4 Singh, D. N., Daripelli, S., Bushara, M. O. E., Polevoy, G. G., & Prasanna, M. (2023b). Genetic Testing for Successive Cancer Treatment. Cureus. https://doi.org/10.7759/cureus.49889

5 What Is Genetic Testing? Understanding Genetic Testing for Cancer. (n.d.). American Cancer Society. https://www.cancer.org/cancer/risk-prevention/genetics/genetic-testing-for-cancer-risk/understanding-genetic-testing-for-cancer.html

6 News-Medical. (2024, March 26). Understanding genetic testing for hereditary cancer diagnosis. https://www.news-medical.net/whitepaper/20240326/Understanding-genetic-testing-for-hereditary-cancer-diagnosis.aspx

7 The Pros & Cons of Genetic Testing for Cancer. (n.d.). https://www.virginiacancer.com/genetic-testing/advantages-disadvantages-of-genetic-testing/

8 BRCA Test (BCRA1 & BCRA2) Hereditary Breast & Ovarian Cancer. (2024, October 16). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/hereditary-cancer/

9 Free Pre & Post Test Genetic Counselling | MedGenome. (2023, March 23). MedGenome – Leading Genetics Diagnostics Lab in India – MedGenome – Leading Genetics Diagnostics Lab in India. https://diagnostics.medgenome.com/medgenome-genetic-counseling/#form

10 Frequently Asked Questions about Hereditary Cancers. (n.d.). Memorial Sloan Kettering Cancer Center. https://www.mskcc.org/cancer-care/risk-assessment-screening/genetic-counseling-and-testing/frequently-asked-questions-about-hereditary#:~:text=In%20general%2C%20only%20about%205%20to%2010%20percent,cancer%20being%20hereditary%20can%20vary%20by%20tumor%20type.