Surgeon attitude impacts rate of genetic testing after a breast cancer diagnosis

Expert Guidelines

The National Comprehensive Cancer Network has guidelines on who should undergo genetic counseling and testing. If you have been diagnosed with breast cancer, you should speak with a genetics expert about genetic testing if any of the following apply to you:     

• You have a blood relative who has tested positive for an inherited mutation 
• You have any of the following:  
  • Breast cancer at age 50 or younger  
  • Male breast cancer at any age
  • Ovarian cancer at any age  
  • Triple-negative breast cancer at any age 
  • Two separate breast cancer diagnoses
  • Eastern European Jewish ancestry and breast cancer at any age 
  • Metastatic breast cancer 
  • Testing of your tumor shows a mutation in a gene that is associated with hereditary cancer
  • HER2-negative breast cancer and high risk for recurrence
  • Lobular breast cancer and a family history of diffuse gastric cancer

OR 

• You have one or more close family members who have had:  
  • Young-onset or rare cancers 
  • Breast cancer at age 50 or younger
  • Triple-negative breast cancer
  • Male breast cancer, ovarian cancer, pancreatic cancer, or metastatic prostate cancer at any age
  • Two separate cancer diagnoses 
  • Prostate cancer at age 55 or younger or metastatic prostate cancer 

The American Society of Breast Cancer Surgeons (ASBrS) released guidelines in 2019 that recommend all women diagnosed with breast cancer have access to genetic testing for inherited mutations in breast cancer genes. 

If you are uncertain whether you meet the guidelines above and you are interested in or considering genetic testing, you should speak with a cancer genetics expert. 

 

Questions To Ask Your Health Care Provider

• Am I at increased risk for carrying an inherited mutation in a gene linked to breast cancer?
• Should I consult with a genetic counselor?
• If I have a mutation in a breast cancer gene, how might that alter my treatment or risk-reduction recommendations?

 

Open Clinical Trials

Below are clinical trials that include genetic counseling and testing.

• NCT02665195: Prospective Registry Of MultiPlex Testing (PROMPT). PROMPT is an online research registry. The goal of PROMPT is to help researchers to better understand the risks that are linked to mutations in less well-studied genes. 
• NCT04245176: Genetic Testing for All Breast Cancer Patients (GET FACTS). This study looks at the impact of a novel genetic counseling method on surgical decisions in people with newly diagnosed breast cancer. This study involves genetic counseling about contralateral breast cancer risk. 
• NCT02620852: WISDOM Study: Women Informed to Screen Depending on Measures of Risk offers women age 40-74 the opportunity to undergo risk assessment and genetic testing in order to determine the best breast screening options based on their situation.  
• Enhancing Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer. This study will test how well educational materials increase the use of knowledge about hereditary cancer risk.
• NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of HBOC.

Other genetic counseling or testing studies may be found here.

 

The following clinical research studies focus on addressing health disparities in cancer. 

• NCT04336397: Stool DNA to Improve Colorectal Cancer Screening Among Alaska Native People. The goal is to determine the acceptability of a stool test to detect colorectal cancer within the Alaska tribal healthcare system. 
• NCT04476654: Improving Uptake of Genetic Cancer Risk Assessment in African American Women-Video. This study looks at the usefulness of intervention with a culturally-tailored video to improve uptake of genetic counseling in Black women who are at increased risk of HBOC.
• NCT04450264: Increasing African Immigrant Women's Participation in Breast Cancer Screening (AIBCS). The study will look at barriers and facilitators to breast cancer screening among African-born immigrants, and adapt and test the Witness Project breast cancer education program to address breast screening disparities in this population.
• NCT04854304: Abbreviate or FAST Breast MRI for Supplemental Breast Cancer Screening for Black Women at Average Risk and Dense Breasts. This study is looking at how effectively a FAST breast MRI can successfully detect breast cancer in Black women with dense breasts.
• NCT03640208: Educate, Assess Risk and Overcoming Barriers to Colorectal Screening Among African Americans. This research will study a community-based intervention to educate and overcome barriers to screening among African Americans who are 45 years or older with no personal or family history of colorectal cancer or inflammatory bowel disease.
• NCT04392050: A Community-Based Educational Intervention to Improve Colorectal Cancer Screening. This study will look at what makes it easy or difficult for underserved populations to have colorectal cancer screenings, with a focus on African American, Latinx and Asian people. 
• NCT03550885: Diet Modulation of Bacterial Sulfur and Bile Acid Metabolism and Colon Cancer Risk. This effort will look at how bile secretion into the intestine selects for bacteria that produce tumor-promoting molecules in African Americans with an increased risk for colorectal cancer.