New Medical Guidelines on Breast-Ovarian Cancer Risk Assessment, Genetic Counseling, and Genetic Testing

by | Oct 3, 2019
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October is Breast Cancer Awareness Month, but some of you have breast cancer on your minds all year long. Maybe you’re a breast cancer survivor or your family members have had the disease. Five to ten percent of people with cancer have an inherited form, such as hereditary breast and ovarian cancer syndrome (HBOC). Inherited gene mutations, often in the BRCA1 or BRCA2 gene, cause people in a family to have an increased cancer risk — for breast, ovarian, and other associated cancers. But how do you know your risk for HBOC? Historically, medical guidelines about who should be tested for HBOC have been very strict, focusing on high-risk families and ethnic groups because the science was best understood in these groups. As more people pursue at-home genetic testing that includes learning about their risk for HBOC, the medical community is learning more about HBOC and who is truly at risk. If you find out that you have HBOC and are concerned about passing it on to your children, preimplantation genetic testing (PGT) may be an option to consider. Understanding more about this is an important first step to getting prepared for PGT

New HBOC Medical Guidelines

In August 2019, the U.S. Preventive Services Task Force (USPSTF) published updated medical guidelines to help healthcare providers identify patients who may benefit from HBOC risk assessment, genetic testing, and genetic counseling related to two key genes, BRCA1 and BRCA2. The guideline focuses on women (biological females) who have not had BRCA1/2 genetic testing and are cancer-free. This means they have never had cancer, or they have completed treatment from a previous cancer that could be related to BRCA1/2

Summary of USPSTF Recommendations

  • A familial risk assessment tool* should be used for:
    • All women with a personal or family history of breast, ovarian, tubal, or peritoneal (tissue lining the abdomen) cancer
    • All women who have an ancestry associated with a higher risk for BRCA1/2 gene mutations (such as Ashkenazi Jewish)
  • Routine risk assessment, genetic counseling, or genetic testing should NOT be used for:
    • Women whose personal history, family history, or ancestry is not associated with BRCA1/2 gene mutations
*The guideline includes examples of quick questions that a healthcare provider can use to assess HBOC risk. For women at higher risk, the guideline recommends that they receive genetic counseling, including a discussion of appropriate genetic testing.

Important Questions and Conversations

The medical community is actively discussing these guidelines. Now including women who are cancer-free from a previous BRCA1/2-related cancer, as well as those who come from a high-risk ancestry group, broadens the guidelines (even if the focus stays on breast and ovarian cancer). But the guidelines continue to focus on women, even though men (biological males) with a BRCA1/2 mutation also have increased cancer risks. Additionally, the guidelines still do not recommend a risk assessment for all women, yet there is mounting genetic testing data from at-home genetic tests suggesting that many women who do not meet guidelines have an increased risk for HBOC. How does this knowledge get incorporated into the overall understanding of HBOC, and can guidelines include this? These are unanswered questions, but ongoing conversations will be important to guide the answers.

How to Use These Guidelines

Use these new guidelines to kick-start a conversation with your doctor about your breast cancer risk, perhaps by completing a risk assessment tool together (examples are in the guideline). And keep in mind that while the BRCA1/2 genes are the largest contributors to HBOC, mutations in other genes may also increase the risk for breast cancer. Clues about these possibilities can be in your family history. Speaking to a genetic counselor, a medical professional trained to look for these clues, can help you understand your breast cancer risk and whether genetic testing makes sense for you. If you would consider PGT if you found out you had HBOC, this can be a great place to begin.

Deepti is a highly skilled writer and editor with medical communications and marketing experience, which blends with her 20+ years of clinical acumen as a certified genetic counselor in the U.S. and Canada. Deepti has an active consulting business and is an engaged member of the National Society of Genetic Counselors, most recently serving as a 2018-2020 Director at Large. In her downtime, you’ll find Deepti poring over cookbooks, facing down superhero quizzes from her sons, or writing about her family’s foodie gene on her blog.

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