Minority Health: Genetic and Genomic Screening

Although Minority Health Awareness Month is drawing to an end, the fight for equity in healthcare isn’t over.

“Where you live and the color of your skin should not determine whether you live. But we know it does” says Susan G. Komen’s CEO, Linda Tantawi. Minority women are disproportionately affected by breast cancer and have a greater risk of dying from the disease.¹ To improve future breast cancer outcomes, genetic and genomic testing must become part of every woman’s breast cancer screening and treatment guidelines.²

Genetics and genomics may sound similar, but they refer to different areas of study—both of which may be helpful in preventing and treating cancer.

Genetic Testing

Genetics is the study of inherited traits, passed on from one generation to the next through genes, which can put you at a greater risk for certain diseases, such as breast cancer. Most women who develop breast cancer have no family history of the disease. However, if you have multiple family members who have had breast cancer, or the BRCA1/2 mutation, your lifetime risk of developing breast cancer increases to a 60 to 70% chance, compared to 12% in the general population.² In the United States, it is approximated that only 10% of women with the genetic mutation BRCA1/2 are aware that they carry it.²

Generally, minority women are less aware of genetic testing since they typically don’t discuss it as a screening option with their providers. Many minority women have low testing rates due to limited access to cancer genetic experts, geographic barriers, language barriers, socioeconomic factors, and income differences.² Private insurers are more likely to cover genetic testing than Medicaid, but often the strongest predictors for not receiving it is a lack of provider referrals.² Twenty-four percent of non-Jewish Caucasian women receive genetic testing for BRCA1/2, compared to 18% of Hispanic women, and only 12% of Black women.³

It is “important to recognize that benefits do not arise from BRCA testing itself, but rather from acting on test results to detect cancers early or prevent them altogether.”² Taking steps to lower breast cancer risk, such as making lifestyle changes, having preventive surgery, and getting screened more frequently along with improved detection and treatment options result in an increasing number of long-term breast cancer survivors.⁴ Additionally, if diagnosed with breast cancer, your care team will factor in your BRCA status when determining which treatment is right for you.

Genomic Testing

Genomics is the study of groups of genes and how they interact with each other, including their role in certain diseases. For instance, the activity and interaction of specific genes in a breast cancer tumor can affect the cancer’s behavior, including how likely it is to grow and spread.

While genetic tests can help to tell your risk of getting cancer, genomic tests do two things: 1) to optimize and personalize your treatment plan if you are diagnosed with breast cancer and 2) predict whether your cancer will recur, and in some cases, whether your cancer requires chemotherapy.

These tests look at the activity of certain cancer-related genes in your individual tumor and provide valuable information about your unique cancer that is not available from traditional tests and measures. This includes the size and grade of your tumor.

There are several tests used to analyze the genes in a breast tumor to help predict whether the cancer will recur. These include the EndoPredict test, the Mammaprint test, the Mammostrat test, the Oncotype DX Breast Recurrence Score test, the Oncotype DX Breast DCIS Score test, and the Prosigna Breast Cancer Prognostic Gene Signature Assay. All of these tests can be done on a sample of preserved tissue that was removed from the breast during an original biopsy or surgery.

The Gold Standard

The Oncotype DX Breast Recurrence Score test is the only genomic test that can be used to predict how likely you are to benefit from chemotherapy, as well as estimate your risk of recurrence if you have early-stage, HR+ breast cancer. In addition, the Oncotype DX test provides the most thorough data supporting its use in making treatment decisions. For these reasons, it is included in all major breast cancer treatment guidelines and is the most common genomic test used in the U.S. to make treatment decisions.

Insufficient risk assessment and low use of genetic testing results in minority women having poor awareness of their breast cancer risk and also using inappropriate and inadequate detection, prevention, and treatment options.⁵

What can patients do:

• Know your family history. Know your risk. This means have open conversations with your family members about breast and other cancers.
• Be your own best advocate. Have a discussion with your provider about genetic and genomic testing. Insist your provider order these tests.
• Find a provider that will work with you on developing a prevention and treatment plan tailored just for you.
• If you have questions call 1-877 GO KOMEN (1-877-465-6636).

References

1. American Cancer Society. Cancer Facts & Figures 2019. Atlanta: American Cancer Society; 2019.

2. Cragun D, Weidner A, Lewis C, Bonner D, et al. (2017, February 09). Racial disparities in BRCA testing and cancer risk management across a population‐based sample of young breast cancer survivors. Retrieved April 17, 2019, from https://onlinelibrary-wiley-com.proxy.library.nyu.edu/doi/full/10.1002/cncr.30621

3. Underhill ML, Jones T, Habin K. (2016). Disparities in Cancer Genetic Risk Assessment and Testing. Retrieved April 17, 2019, from https://onf-ons-org.proxy.library.nyu.edu/onf/43/4/disparities-cancer-genetic-risk-assessment-and-testing

4. Murdock KW, Garcini LM, Chirinos DA, Ramirez J, Jackson B, Fagundes, CP. (2017, April 26). Racial / Ethnic Disparities in Breast Cancer Incidence, Risk Factors, Health Care Utilization, and Outcomes in the USA. Retrieved April 17, 2019, from https://link-springer-com.proxy.library.nyu.edu/article/10.1007/s12609-017-0247-6

5. Susan G. Komen Greater NYC. (2019). Komen Greater NYC. Retrieved April 17, 2019, from http://www.komennyc.org/site/PageServer?pagename=ivebeendiagnosed