Improving Cancer Survival Rates with Increased Genetic Testing

Improving Cancer Survival Rates with Increased Genetic Testing

For clinicians, it is crucial to employ the most effective tools and strategies to identify and manage patients at risk for cancer. Genetic testing provides the information clinicians need to best support their patients.

By providing insights into a patient’s genetic makeup, genetic testing holds the potential to greatly improve both survival rates and clinical outcomes for patients. This happens through a combination of personal risk mitigation for patients that have a high risk for developing cancer and improving treatment plans for patients that have a cancer diagnosis.

Understanding Genetic Testing for Hereditary Cancer Syndromes

Genetic testing involves analyzing an individual’s DNA to identify specific genetic variations (mutations) that increase the susceptibility to certain diseases, including cancer. Genetic variants in certain genes cause a patient to be at an increased risk for developing different types of cancer. These include the BRCA1 and BRCA2 genes, which are associated with breast and ovarian cancer, and the Lynch syndrome genes associated with colorectal and uterine cancer.

Cancers caused by variants that a patient inherits from their parent(s) are referred to as hereditary cancer syndromes and make up about 10% of all cancers.2 Genetic testing identifies these variants in patients that have a personal or family history of cancer.

For patients that have a variant associated with hereditary cancer, specialized screening for early detection of cancer and informed healthcare decisions to reduce the risk for developing cancer can be of great clinical benefit. Testing panels such as the Hereditary High-Risk Breast Cancer Panel, the Hereditary Breast/Ovarian/Endometrial Cancer Panel, the Common Hereditary Cancer Panel, and others may be considered for patients.

Targeted Treatment Approaches

Genetic testing is not just for preventive care. It is increasingly helpful in supporting oncologists as they develop treatment plans for those already diagnosed with cancer. Genetic tests for targeted cancer therapy can detect particular variants in the DNA of cancer cells to help guide the type of treatment that a person receives.

The presence or absence of mutations can predict who may benefit from certain drugs and who is not likely to respond.3 This knowledge allows oncologists to tailor treatment plans and select therapies that are most likely to be effective for a specific patient’s genetic makeup.

Early Detection, Prevention, and Awareness

According to the World Health Organization, between 30-50% of all cancer cases are preventable.4 While changes to one’s lifestyle can have a dramatic impact on the individual risk for cancer, genetic testing helps inform a prevention strategy. However, only a small percentage of people understand the relationship between genetic testing and cancer prevention and treatment.

A recent study showed that just over 5% of the US population has undergone high-risk cancer genetic testing.5 This might be the result of a lack of education regarding genetic testing or lack of access to clinical support for certain communities. Removing these and other barriers to testing will undoubtedly help many patients receive the care they need.

Awareness of and accessibility to testing for hereditary cancer allows individuals to be tested and at earlier ages to catch cancer in its emerging stages when it is most treatable. By detecting cancer in its early phase, healthcare professionals can implement timely interventions, resulting in improved prognosis and higher survival rates.

Current guidelines from most professional societies recommend genetic testing as a part of risk evaluation for individuals with personal and/or family history suggestive of an increased risk for breast cancer. Moreover, studies suggest that 8-10% of the US population with breast cancer, even those without a family history, may have a variant in a gene associated with an increased risk for developing cancer. Because of this, the American Society of Breast Surgeons now recommends that all individuals diagnosed with breast cancer be screened for breast cancer risk genes, regardless of family history.6

Research Advancements and Data Sharing

The analysis of genetic testing data can lead to:

  • The discovery of novel biomarkers
  • The development of more effective therapies
  • A deeper understanding of the complex mechanisms behind cancer development and progression

Genetic testing providers play a pivotal role in facilitating collaboration and data sharing, which accelerates the pace of scientific discoveries and, in turn, improves cancer survival rates. Efforts like these have led to some of the most important discoveries in the fight against cancer. For example, the BRCA1 and BRCA2 genes have greatly influenced preventive care for breast cancer.7

Cancer Survivors Day is an important reminder that even after a cancer diagnosis, individuals can have a full and meaningful life. Raising awareness and increasing access to genetic testing for cancer is vitally important to elevating survival rates and better treatment for all types of this common disease. Educating yourself and your patients about risk factors, hereditary causes, types of testing, and screening options is one of the most effective ways to improve outcomes and even save lives.

If you have questions or would like to discuss whether Baylor Genetics’ Common Hereditary Cancer Panel or other cancer panels is the right test for your patient, our genetic counselors are available to speak with you.

  1. American Cancer Society. (January 2023).
  2. American Cancer Society. (September 2022).
  3. (May 2021).
  4. World Health Organization. (February 2022).
  5. Makhnoon, Sukh; Maki, Kristin G.; Yu Robert; Peterson, Susan K.; Shete, Sanjay. (2022). Are beliefs about the importance of genetics for cancer prevention and early detection associated with high risk cancer genetic testing in the U.S. Population? Prev Med Rep. 27:101781. doi: 10.1016/j.pmedr.2022.101781
  6. Baylor Genetics. (2020). Genomic Testing in Breast Cancer: Screening for Risk Assessment and Therapeutic Options
  7. Compass Oncology. (2022). Why is Genetic Testing Important for Cancer Research?


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