Genetically speaking, what’s in your family tree?

During the month of October, as the nation blankets itself in pink to acknowledge Breast Cancer Awareness Month, ask yourself: How aware are you of your genetic risk for breast cancer?

If someone in your immediate family has had breast, ovarian or prostate cancer – or there have been three cancers of the same type on one side of your family – genetic counseling is something to consider.

If you’re concerned about breast cancer, a blood or saliva test can identify whether you have a mutation in a gene that increases your risk for breast cancer or other cancers.

A genetic test helps to identify many potential cancer risks, leads to earlier preventive screenings and, in some cases, helps doctors select targeted cancer drugs if a genetic mutation is discovered.

“Our main goals are to make genetic testing available to anyone who wants it and to make sure everyone is getting the best cancer screening based on their family history and/or genetics, so we can prevent a cancer if we can, or at the very least, catch it as early as possible,’’ said Kim Kinnear, a UCHealth genetic counselor.

A recent article in the Journal of American Medical Association shows a low percentage of patients and their relatives are getting tested. Among patients diagnosed with cancer in California and Georgia between 2013 and 2019, only 6.8% underwent genetic testing related to cancer risk. Compared with non-Hispanic White patients, rates of testing were lower among Asian, Black and Hispanic patients.

Though most insurance plans cover this type of genetic testing, if you meet the criteria, the cost of an out-of-pocket genetic test is much less than it used to be. It’s now $250.

“I think people hear genetic testing, and they think it’s thousands of dollars, but it is not,’’ said Kinnear, who holds a master’s degree in genetic counseling from Stanford University.

To learn more about genetic testing for breast cancer, we asked Kinnear to answer questions about testing and how it may benefit families.

What is genetic testing?

Genetic tests analyze genes to determine if you are at risk for developing a specific disease or are a carrier of a disease. Genetic testing also can help detect or diagnose a disease and predict how it may affect you.

What is discovered through cancer genetic testing?

 In this type of genetic test, scientists look at all kinds of genes that are related to cancer risk and cancer protection. “Genetic testing looks at your DNA, your genes. You’ve got two copies of each gene, one that comes from mom, or the egg that makes you, and one that comes from dad, or the sperm that makes you,’’ Kinnear said.

“We are primarily looking at genes whose job it is to protect us from cancer to see whether someone has inherited a damaged copy of any of these genes. If we find a damaged gene, that gene will tell us what cancers that person is at risk for, and we can recommend earlier or specialized cancer screening. We can also test family members to find out who else is at risk,” Kinnear said.

What does a person have to do to get this type of genetic test?

Kinnear recommends meeting with a genetic counselor to review your family history of cancer, discuss risks and benefits of genetic testing, and to discuss things like cost and insurance coverage of testing.

Not all insurance companies cover genetic testing, but a genetic counselor can give you a good idea of whether you meet criteria for testing, and what your expected cost might be.

If you decide to proceed with testing, you’ll provide either a blood sample or a saliva sample. If a blood draw is taken, it is a maximum of two tubes of blood. A saliva kit can be mailed to your home. You would spit into a tube and then drop it off at Fed Ex, eliminating the need to travel to a clinic.

UCHealth also offers phone and video visits for genetic counseling.

Where is genetic counseling available at UCHealth?

UCHealth has cancer genetic counselors in Colorado Springs, metro Denver and northern Colorado, including Fort Collins, Loveland, Greeley and Steamboat Springs.

When should you talk to your doctor about genetic testing for breast cancer?

If you have a relative with young breast cancer, or many family members with certain cancers, you should ask about a referral for genetic counseling.

Note: first-degree relatives are children, siblings and parents. Second-degree relatives are grandchildren, nieces and nephews, aunts and uncles, and grandparents.

Here are broad guidelines to consider:

If you, or your first- or second-degree relative(s) has had:

• A breast cancer diagnosed at age 50 or under
• An ovarian cancer (any age, NOT cervical cancer)
• A breast cancer in an individual assigned male at birth
• 3+ relatives on the same side of the family with breast cancer or prostate cancer (e.g., dad had prostate cancer, dad’s sister and mother had breast cancer)
• Known genetic risk factor (gene mutation) for cancer in the family
• Breast cancer in the family and Ashkenazi Jewish ancestry on that side of the family

If you or your first-degree relative has had:

• Pancreatic cancer (any age)
• High-grade prostate cancer or metastatic prostate cancer (spread outside the prostate)

How long does it take to get results back once blood or saliva is submitted?

 Two to three weeks

What are the BRCA1 and BRCA2 genes?

These genes produce proteins that help repair damaged DNA. People who inherit damaging variants, or “mutations,” in one of these genes have increased risk for breast, ovarian, prostate cancer, and other types of cancer. There are also many other genes beyond BRCA1 and BRCA2 that increase risk for breast cancer and other cancers. Testing typically looks at a panel of at least 60 genes related to cancer risk.

What happens after the results are known?

The genetic counselor meets with patients when results are available. Even if results are negative, counselors may recommend potential changes in screening based on family history. If there is colon cancer in the family, for instance, colonoscopies may be recommended sooner.

“If a test is positive for genetic mutation, we walk them through what the results mean. We walk them through how to let family members know so they can be tested,’’ Kinnear said.

UCHealth also has a new Cancer Genetics and Prevention Clinic in Fort Collins/Loveland and metro Denver. The clinic helps people who are high-risk for cancer, usually based on genetics. Providers see mutation-positive patients annually to advise on any updates to screening recommendations for that gene, coordinate screening and help with notification of relatives.

If you have had positive genetic testing, it is likely relevant for many of your blood relatives, not just your children. “People say, ‘Oh, I should tell my kids?’ and we say, ‘and your siblings, and your nieces and nephews and your cousins,’’’ Kinnear said.

If a test is negative, does that mean a person has no risk?

No. It doesn’t mean somebody doesn’t have any risk.

“We don’t know all of the genes that are associated with cancer risk yet,’’ Kinnear said. “So we have families that have many people with breast cancer, but we get negative results all around so we’re left with ‘Gosh, there’s something happening in this family. We’re not sure what, we can’t find it with the testing that we have, but the women are still going to be at higher risk.’’’ Women in that family may have recommendations for earlier mammograms or screening in addition to a mammogram each year, such as adding a breast MRI for screening.

If a test is positive, does that mean a person will develop cancer?

A positive test means you are at higher risk of developing a hereditary condition, but it is not a guarantee that you will get cancer.

What if a person has been diagnosed with breast cancer, should they receive genetic testing?

In 2019, The American Society of Breast Surgeons did a study looking at women with breast cancer. Between those who met criteria for testing and those who didn’t, half of the mutations were in women who did not meet the criteria. Some UCHealth sites are offering genetic counseling to all women who have had breast cancer.

“Even if somebody has had breast cancer and they have never had genetic testing because they were told, ‘Oh you were 70, we don’t need to do that – you don’t meet criteria,’ we are seeing them now,’’ Kinnear said.

How does genetic testing benefit women and men who have been diagnosed with breast cancer?

For individuals newly diagnosed with breast cancer, genetic testing may help a patient decide how to proceed with their care. For instance, if a patient is eligible for a lumpectomy to remove the cancerous tumor, and genetic testing shows they are at risk for another breast cancer, they may opt for bilateral mastectomies, or removal of both breasts.

“We are treating this cancer and preventing a future one in patients who are high risk,’’ Kinnear said. “Sometimes genetic testing comes into play in guiding treatment. That is becoming more common. Some of these genes have targeted treatments associated with them and doctors might consider those treatments now, or in the future, to treat the cancer.’’

People have trepidation about whether they want to know or not know their genetic risk. How is this accommodated?

 “If someone is on the fence, that is what we are here for. Genetic counselors are not here to push someone into genetic testing; that’s not my job. My job is to walk you through all of the options,’’ Kinnear said. “The way I most often think about it is, whether you have a genetic risk for cancer or not, you have it. If we know about it, we can do early or extra screening. There’s nothing that we test for that we just say, ‘Oh, you are high risk. Best of luck out there.’ There is always some sort of follow-up plan to screen for cancers that they are at risk for.”

Kinnear said it is not uncommon for her to have people who are hesitant themselves, but they want to know for their kids so they can be tested and screened earlier, if needed.

“Another thing that comes up, is people say ‘I worry that if I test positive that I’m just going to be worrying about getting cancer all the time,’’’ Kinnear said. She reminds them that if there’s a history of cancer in their family, it may already be top of mind.

Can a medical insurance company use positive test results against you?

 A federal law called GINA – Genetic Information Non-discrimination Act — protects individuals from a health insurance company or an employer using a genetic test against a patient.

“If someone tests positive, they can’t be fired from a job, they can’t lose their health insurance, they cannot be charged more for health insurance if they are switching – none of that,’’ Kinnear said. “What’s not covered under GINA is that if someone plans to apply for more life insurance, long-term care insurance — those sorts of plans — these are things we talk about in our visit.”

“A lot of people are concerned that their health insurance is going to be affected in some way and that is not the case. That law was passed in 2008.’’

What types of cancers are genetic or hereditary?

Major cancer types include: breast, ovarian (including fallopian tube and primary peritoneal), uterine, prostate, pancreatic, colon/rectal, stomach (gastric), kidney, melanoma, thyroid, and others. If these cancers run in your family, consider speaking with your primary care provider about a referral to a cancer genetic counselor.

This has evolved over the years but, for now, Kinnear doesn’t typically think of the following cancers as hereditary or genetic:

• Lung cancer in smokers.
• Cancers that are thought to be related to HPV (Human Papilloma Virus, a common sexually transmitted virus). This includes cancers like cervical, anal, vaginal, labial, penile, mouth and tongue.
• Non-melanoma skin cancers (squamous cell and basal cell types) are typically thought to be related to sun exposure.
• Liver cancer (hepatocellular carcinoma, “HCC”), especially in those who had known hepatitis or cirrhosis.