NCCN Expands Genetic Testing Criteria to Include More Women with Breast Cancer
If you have breast cancer and were previously told that you did not meet criteria for hereditary cancer testing—you may now meet criteria after guideline updates last week.
Last week, the National Comprehensive Cancer Network (NCCN) updated the criteria for BRCA testing to include many more women diagnosed after the age of 50. Now, a woman diagnosed with breast cancer at ANY age meets criteria if she has even one close relative with pancreatic cancer or high-grade/metastatic prostate cancer. Close relatives include first-, second- and third-degree relatives.
Why does this matter?
Age has always been an important part of genetic testing criteria. A woman diagnosed with breast cancer at the age of 45 or younger with no family history of cancer at all meets criteria for testing. No personal history of cancer but a first- or second-degree relative with breast cancer diagnosed at 45 or younger is also sufficient to meet criteria. If your grandmother or aunt was diagnosed with breast cancer at age 45, you meet criteria for genetic testing. And this is not new. It has been the case for many years.
Family history of breast and/or ovarian cancer has always been an important part of genetic testing criteria. If a woman is diagnosed with breast cancer at any age and has two close relatives on the same side of the family who were diagnosed with breast cancer at any age—she meets criteria for testing. If you were diagnosed with breast cancer at 68 and have a grandmother and a cousin who were diagnosed with breast cancer in their 80s, you meet criteria for genetic testing. And this is also not new. It has been the case for many years. (Family history of pancreatic and high-grade prostate cancer mattered too, but in combination with other family history.)
Women from larger families with more female relatives more easily meet criteria for testing. This is because breast cancer is very common. The average woman has about a 1 in 8 risk of developing breast cancer at some point in her life. The median age at diagnosis is 62. Meeting genetic testing criteria doesn’t necessarily mean that a hereditary cancer mutation is likely in your family. If you were diagnosed with breast cancer at an older age and have many female relatives who lived to older ages without developing breast cancer, the likelihood of a hereditary cancer mutation may be very low. Evaluation of a family history is an important part of genetic counseling. But guidelines have to be written in a way that can be applied to all different families.
These expanded criteria help reach women who inherited a hereditary cancer mutation from their father rather than their mother. They also help to reach women who may have more male than female relatives. In a family with a paternally inherited BRCA mutation or few aunts, there may not be much or any family history of breast cancer. But there may still be a family history of pancreatic cancer or prostate cancer.
Why do the guidelines specify “high-grade/metastatic prostate cancer” ?
Prostate cancer is also a very common cancer, particularly at older ages. Most prostate cancer is not aggressive and is not suggestive of a hereditary cancer mutation. Most men die with prostate cancer and not of prostate cancer, which is why the guidelines specify “high-grade (Gleason score ≥ 7)/metastatic prostate cancer.” Guidelines related to hereditary cancer testing for men with prostate cancer were also updated earlier this year.
What if you just don’t know your family history?
If you have family members you can ask about your family health history—ask!
- It’s helpful to know where the cancer started (the primary cancer). Where the cancer may have metastasized to is less helpful for genetic risk assessment.
- It’s also helpful to know how old a family member was when they were diagnosed. Patients often share how old a family member was when they passed away, but this information is less helpful. It’s also very normal for someone to remember that they were five of fifteen years old when a mother or grandfather died of cancer. From a family dynamics perspective, these details are very meaningful. But from a genetic risk assessment perspective, the age at diagnosis is what matters.
- If you have a family history of prostate cancer, try to find out if it was aggressive or if it was a diagnosis that someone lived with for many years, perhaps receiving no or minimal treatment. Ideally, you want to know the Gleason score that was assigned.
If you were adopted or have a very small family, guidelines do take these situations into account.
How many people are impacted by these guideline updates?
266,000 new cases of breast cancer are estimated for 2018. Nine out of 10 of these women will live for at least 5 more years. While these guidelines are important for women with new diagnoses of breast cancer, they are also have a big impact on breast cancer survivors. In 2015, there were nearly 3.5 million women living with breast cancer in the United States. Most of these women were diagnosed with breast cancer after the age of 50. Many of them may have a family history of pancreatic or aggressive/metastatic prostate cancer.
These guideline updates also impact women with no personal history of cancer. Women who have no personal history of cancer but have a first- or second-degree relative (ex. mother or aunt) who does have a personal history of breast cancer and who, in turn, has a close relative with pancreatic or metastatic prostate cancer, also meet criteria for testing. Women with no personal history of cancer who have a first- or second-degree relative (ex. grandfather, uncle) with pancreatic cancer also meets criteria for testing. If thinking about this makes your head hurt, you have company. And ideally, it’s always best to initiate hereditary cancer testing in a family with someone who has a personal diagnosis of cancer. But bottom line—these updates open up testing to a lot more women, including those who have no personal history of cancer.
What’s the point of doing genetic testing if you’ve already had breast cancer?
Identifying a hereditary cancer mutation can be helpful in clarifying your risk of a second primary breast cancer or of other cancers. In most cases, this information can be used to guide your personalized plan of care: 1) to minimize your cancer risks and 2) to increase the likelihood of early detection and better outcomes. Increasingly, genetic testing results can also impact treatment options for cancer.
Identifying a hereditary cancer mutation in the family can be very valuable for other family members, making “cascade screening” possible—sorting out which family members carry the hereditary cancer mutation and are therefore at high risk for developing certain cancers and which family members do not carry the hereditary cancer mutation and are therefore at average risk for developing certain cancers.
A negative test result is the most common result of genetic testing and is also valuable. In many cases, if a family member with a personal history of cancer has negative genetic testing results, no genetic testing for other family members is recommended. If you have a personal history of cancer and your genetic testing results are negative, these negative test results often provide more helpful information for your children than your children’s own genetic testing results would. (If your genetic testing results are negative, family history still matters!)
My 23andme results were negative, so I’m good, right?
No, negative 23andme BRCA results don’t rule out very much. And while these NCCN testing criteria are for “BRCA1/2 testing criteria,” these criteria are part of a 110-page document that make it clear that hereditary cancer mutations in other genes are also important to consider and can have a big impact on recommendations for your personalized plan of care, such as the age at which to begin breast screenings and what those screenings should look like.
Why do NCCN guidelines matter?
NCCN is a national professional organization that publishes evidence-based guidelines for Oncology. NCCN helps to set the standard of care. When it comes to coverage of the cost of genetic testing, most insurers tend to follow NCCN. This doesn’t mean that insurers will be quick to update their policies! It usually takes about a year for changes to NCCN guidelines to be reflected in insurance policies related to coverage of genetic testing. Some insurers do and will still have policies that are more restrictive.
Were any other important updates made to the HBOC NCCN guidelines?
Yes! The NCCN Guidelines also expanded testing criteria to include all individuals with pancreatic cancer diagnosed at any age and regardless of family history. You can read the last News Corner post about why this matters here.
- If you have a personal or family history of breast cancer, pancreatic cancer, or metastatic prostate cancer, you may now meet criteria for hereditary cancer testing—even if you were previously told that you didn’t quite meet criteria.
- Insurance coverage policies tend to follow NCCN guidelines—but it typically takes insurance policies about a year to catch up to new guidelines!
- Getting your insurance to cover the cost of genetic testing for you may require an appeal, and testing may not be covered.
- If your insurance will not cover the cost of genetic testing for you, relatively low-cost testing options that are still high quality are available and could be considered. Consult with a genetic counselor or another healthcare professional who is knowledgeable about the quality differences in genetic testing to make sure any testing you have ordered is highly accurate.
- Meeting with a genetic counselor can help you to understand all your options as well as the implications of any test results for you and your family members. You can schedule a telehealth cancer genetic counseling appointment online here.
- Do you have a story to share related to pancreatic cancer and genetic testing? Check out our Patient Stories podcast. We would love to interview you and share your story.
For Healthcare Providers
- If you have breast cancer survivors in your practice, many of these women may meet criteria for hereditary cancer testing.
- These expanded criteria mean it’s even more important to ask not just about a family history of breast and ovarian cancer but also family history of pancreatic and prostate cancer.
- If you have a genetic counselor within your hospital or medical practice, reach out to them to talk about when and how to refer patients and how you can work together better.
- Looking for more support for your practice to keep up with all the rapid changes in genetics? Check out the new Grey Genetics support packages to find the option that works best for your practice.
- Not able to hire a full-time genetic counselor for your practice but interested in covering the cost of genetic counseling for some of your patients? You can pre-pay for telehealth appointments for your patients, then just give them the booking code and let them schedule their telehealth online at their own convenience. Weekend and evening appointment times can be accommodated upon request.