Broader Genetic Testing May Improve Breast Cancer Risk Assessment

Broader Genetic Testing May Improve Breast Cancer Risk Assessment

Researchers believe that breast cancer clinics can use the new risk estimates to offer more accurate risk assessments for women who don’t have a family history of breast cancer. More intense conduction of hereditary cancer genetic testing in the general population could enhance breast cancer risk assessment for women.

To improve breast cancer risk assessment, providers should perform genetic testing in women who aren’t at high risk of developing the disease, according to a study published in The New England Journal of Medicine.

Currently, genetic testing is limited to a specific population of women due to necessity and costs. However, these commonly held misconceptions are starting to change.

Fergus Couch, Ph.D., and a Mayo Clinic pathologist recently said, “Traditionally, genetic testing of inherited breast cancer genes has focused on women at high risk who have a strong family history of breast cancer or those who were diagnosed at an early age, such as under 45 years,”

Additionally, current estimates of breast cancer risk provided to women who are found to have a breast cancer mutation are appropriate only for those at high risk – not for women from the general population.

According to the article,  for the study, researchers conducted hereditary cancer genetic testing of 12 established breast cancer genes in 32,247 women with breast cancer and 32,544 women of similar ages without breast cancer from several large US population-based studies.

Furthermore, the analysis of women from these population-based research projects are enabling doctors and scientists to better understand how frequent the mutations arise among various breast cancer genes. Also, the analysis is allowing doctors and scientists to more accurately predict the risk of developing breast cancer for women in the general population with those identified genetic mutations. 

“The risk of developing breast cancer is generally lower for women without a family history of the disease,” said Couch. “When we looked at all women, we found that 30 percent of breast cancer mutations occurred in women who are not high-risk.”

Before the study, women who are considered high risk weren’t able to receive accurate estimations of their personal breast cancer risks. The finding applied to Caucasian, African American, and Hispanic women. 

“These estimates can inform cancer testing and screening and improve clinical management strategies for women in the general population with inherited pathogenic variants in these genes.”

Another study in 2018, showed that screening the general population for breast and ovarian cancer gene mutations through genetic testing is more cost-effective than screening only high-risk patients.

Researchers who conducted the 2018 study noted that testing only high-risk individuals is only moderately effective when it comes to identifying mutations and ruling out the absence of one.

“We and others have shown that this approach misses more than 50 percent of mutation carriers,” the researchers stated. “Personalized cancer prevention can have a much bigger impact on reducing the burden of disease but requires a shift in focus to the unaffected population.

What does this mean for you and your family?

Genetic testing can further the information on the genes you or a loved one carry. Research shows that genetic testing can help your provider recommend more precise treatment options. Genetic testing can also help you determine whether you (or your loved one) are at an increased risk for cancer and how to improve the prognosis. 

Vita Medical Solutions is proud to partner with laboratories to facilitate access to advanced hereditary cancer (CGx) genetic testing.

Learn more about your personal and family genetic makeup and personalized medicine options through our genetic test offerings. Read more specifically about CGx testing here:

With qualifying insurance, this test can cost you nothing out of pocket. Click below to schedule a call with one of Vita Medical’s Patient Services Consultants to find out your eligibility.

Call us at 1.800.590.9292 (toll-free) or email at [email protected].

Test. Know. Educate. Advocate.

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