What Are The Benefits Of Genetic Testing For Brca1 And Brca2 Variants
There can be benefits to genetic testing, regardless of whether a person receives a positive or a negative result.
The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one’s children are not at risk of inheriting the family’s cancer susceptibility, and the possibility that special check-ups, tests, or risk-reducing surgeries may not be needed.
A positive test result may allow people to make informed decisions about their future health care, including taking steps to reduce their cancer risk.
When Is Genetic Testing Not Recommended
Theres only a very small chance your family carries a BRCA1/2 inherited gene mutation if you or a family member is the only person in your family with breast cancer .
Although you always have the option of being tested, in most cases, genetic testing isnt recommended when theres a very low chance of finding a mutation. Its strongly recommended you speak with a genetic counselor before deciding whether to have genetic testing.
Most breast cancers are not due to a BRCA1/2 or other inherited gene mutation linked to breast cancer .
Brca1 And Brca2 Gene Mutations
When it comes to breast cancer risk, the most important inherited gene changes are in the BRCA1 and BRCA2 genes. Women with one of these gene changes are said to have Hereditary Breast and Ovarian Cancer syndrome.
- Women with a BRCA gene change have a greatly increased risk of breast cancer, as well as an increased risk of ovarian cancer, pancreatic cancer, and possibly some other cancers.
- Men with a BRCA gene change are at increased risk of breast cancer , prostate cancer, pancreatic cancer, and possibly some other cancers.
If you have a family history of breast cancer, you have a higher risk of getting breast cancer yourself. Most women with a family history of breast cancer do not have an inherited gene change that greatly affects their risk. Still, an inherited gene change is more likely in women with a strong family history of breast cancer, especially if the family history also includes certain other cancers, such as ovarian, pancreatic, or prostate cancer. The risk of having an inherited syndrome is also affected by:
- Which family members are affected
- The number of family members affected
- The age when your relatives were diagnosed
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Multigene Breast And Ovarian Cancer Panels
Aetna considers multigene hereditary cancer panels that accompany BRCA testing , BRCAPlus , BRCAvantage Plus , High Risk Hereditary Breast Cancer , OncoGeneDx Comprehensive Cancer Panel , and OncoGeneDx High/Moderate Risk Panel) experimental and investigational because there is insufficient published evidence of their clinical validity and utility. However, the BRCA testing portion of these panels are considered medically necessary if the above outlined criteria are met.
Aetna members may NOT be eligible under the Plan for genetic testing for breast and/or ovarian cancer susceptibility for indications or tests other than those listed above including, but may not be limited to, the following:
- Any of the following genes, alone or as part of a panel: ATM, BARD1, BRIP1, CHEK2, Mre11 complex, NBN, RAD50, or RAD51 paralogs , and STK11.
- Any of the following genes as part of a breast or ovarian cancer panel: CDH1, MUTYH .
- Multigene panels for breast and/or ovarian cancer susceptibility including, but may not be limited to, the following:
- BRCAvantage with Reflex to Breast Plus Panel
- Breast Plus Panel without BRCA
- Invitae Breast and Gyn Cancers Panel
- Invitae Breast Cancer Guidelines-Based Panel
- Invitae Breast Cancer High-Risk Panel
- Invitae Breast Cancer Panel
- OncoGeneDx Breast Cancer High/Moderate Risk Panel
- OncoGeneDx Breast Cancer High Risk Panel
- OncoGeneDx Breast/Ovarian Cancer Panel
- Single nucleotide polymorphism genotyping tests .
How Do I Decide Whether To Have A Genetic Test
Before you have a test, the genetic counsellor will talk to you about what your options are if you do have a faulty gene. This is usually part of the process of deciding whether to have the test or not. The options will depend on:
- the particular gene fault that you may have
- which cancers you are at increased risk of developing
- your age and plans for the future
If a faulty gene is found, you may have:
- regular screening to pick up cancers early
- treatment to reduce the risk of cancer, such as medicines or surgery
Read about possible screening and treatment options on the page about getting your genetic test results.
Making a decision about whether to have genetic testing can be difficult. It is normal to feel anxious. Thinking about the possibility of getting cancer is difficult. It may also bring back emotions you felt when other family members were diagnosed with cancer and what they went through.
It is important to take time to think it through. Before you decide, it can help to think about these questions:
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Going For Genetic Counseling
At my appointment, Im nervous and not sure what to expect, but Thomas puts me at ease. Shes thorough, so I feel confident were not going to miss anything.
First, we talk about my family history of cancer. She draws out my family tree, starting with both sets of grandparents. We list everyones siblings and children. We talk about whether each person has had any type of cancer, including what kind they had and how old they were.
In my case, I know of no one in my moms large extended family who has had cancer. My dad is an only child and his extended family is small. So we only know about my grandmother and half-sister.
She asks if my half-sister had genetic testing, and I cant answer because were not in touch. Thomas is unphased.
“You might think your family situation is unusual, but we work with all kinds of family dynamics,” she says. “We’re very mindful or not wanting to create worse family communications or stress people out unnecessarily. Ultimately its the familys information and how they choose to share it is up to them.
Thomas also asks me questions about parts of my own medical history that could affect my risk.
She enters all the information into the Tyler-Cusick statistical model, a profiler that weighs all of your risk factors to tell you your personal risk.
The results say I have a 32% chance of getting breast cancer in my lifetime. The average person without my risk factors has a 10% chance. Thats shocking to hear.
Prophylactic Mastectomy For Diabetic Mastopathy
Agochukwu and Wong stated that diabetic mastopathy is a benign condition of the breast that typically manifests in patients with diabetes mellitus. Lymphocytic mastopathy is the term used to describe this condition in patients without diabetes mellitus. Most patients undergo excisional biopsy, but the use of mastectomy, even in cases of diffuse, bilateral disease, is rarely reported. These investigators presented the case of a 32-year old woman with type 1 diabetes and bilateral diabetic mastopathy. Because of pain, and concern for limitations in future cancer detection, she underwent bilateral NSM with immediate direct-to-implant reconstruction. A systematic literature review was performed to examine the therapeutic options for this disease, particularly from a plastic surgery perspective. A total of 60 articles were reviewed that contained information regarding 313 patients. Of these patients, only 4 underwent mastectomy. The authors concluded that this case was the 1st report of bilateral NSM and immediate implant reconstruction for a patient with bilateral, symptomatic diabetic mastopathy.
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What Are The Limitations Of Gina
GINA does not generally apply to employers with fewer than 15 employees, the military, Veteran’s Administration, Indian Health Service, or the Federal Employee Health Benefits Plan. However, all but small employers have similar protections in place.
Currently, GINA does not address concerns about disability, long-term care, or life insurance. It is important to understand that genetic non-discrimination laws do not protect people from discrimination based on having had a cancer diagnosis.
What Are The Next Steps After Brca Gene Testing
Once youve taken a BRCA gene test, there are three possible test results you can receive:
- Positive. A positive result indicates the presence of a harmful BRCA1 or BRCA2 variant, which places you at an increased risk of developing breast, ovarian, or other cancers.
- Negative. A negative result indicates one of two things: 1) that you did not inherit a harmful BRCA1 or BRCA2 variant from a close family member, or 2) that you do not have the specific variant tested for but may possibly have another variant.
- Variant of uncertain significance . A VUS result indicates the presence of another genetic variant that is rare but not currently associated with an increased risk of cancer.
Depending on your test results, your doctor or genetic counselor will advise you on the next steps. If you have tested positive for BRCA1 or BRCA2 variants, there are many ways that you can reduce your cancer risk, including annual screenings, certain medications, and preventative surgeries.
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Genetic Testing Coverage & Reimbursement
Most health insurance plans will cover the cost of genetic testing when recommended by a physician. However, all coverage and reimbursement is subject to Medicare, Medicaid, and third-party payer benefit plans. Therefore, ASCO strongly encourages you to verify with the patients insurer to understand what type of services will be covered.
Does Medicare Cover Genetic Testing
Medicare may cover genetic testing when it is ordered by a doctor, but only for specific types of cancer, and only if you meet certain criteria.
Medicare Advantage plans may also cover medically necessary genetic tests in very limited circumstances for certain types of cancer.
Many Medicare Advantage plans cover prescription drugs and offer annual out-of-pocket spending limits for Part A and Part B services, both of which are not offered by Original Medicare .
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Are Harmful Variants In Brca1 And Brca2 More Common In Certain Racial/ethnic Populations Than Others
Yes. The likelihood of carrying an inherited mutation in BRCA1 or BRCA2 varies across specific population groups. While the prevalence in the general population is about 0.2%0.3% , about 2.0% of people of Ashkenazi Jewish descent carry a harmful variant in one of these two genes and the variants are usually one of three specific variants, called founder mutations. Other populations, such as Norwegian, Dutch, and Icelandic peoples, also have founder mutations .
Different racial/ethnic and geographic populations also tend to carry different variants in these genes. For instance, African Americans have BRCA1 variants that are not seen in other racial/ethnic groups in the United States . Most people of Ashkenazi Jewish descent in the United States who carry a BRCA variant have one of three specific variants . In the Icelandic population, a different variant in BRCA1 is common among those who inherit a mutation in BRCA1.
How Much Does Brca Testing Cost
There are different types of BRCA testing, and recently, more laboratories have begun to offer BRCA testing. At times, testing is fully covered by insurance. If not covered by insurance, there are self-pay are available starting at around $250, though the cost of the test varies by laboratory. Genetic specialists are helpful in determining what type of testing is recommended.
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Whos Eligible For The Breast Cancer Index Test
You may be eligible for the Breast Cancer Index test if:
- you were diagnosed with early-stage breast cancer
- the cancer was hormone-receptor-positive
- there was no cancer in your lymph nodes or the cancer is lymph-node positive and is in one, two, or three lymph nodes
- youve been taking hormonal therapy for 4 to 5 years and want to know if taking hormonal therapy for more time will be beneficial
Research has shown that extending hormonal therapy for 5 more years for a total of 10 years of hormonal therapy can offer benefits for some women diagnosed with early-stage, hormone-receptor-positive disease.
The Breast Cancer Index test is performed on preserved tissue that was removed during the original biopsy or surgery.
Because many women have troubling side effects, including hot flashes and joint pain, from hormonal therapy, they want to know if extending the time they take hormonal therapy is worth tolerating the side effects.
What About Prenatal Testing
Many expecting parents decide to conduct genetic testing before a baby is born to get a full picture of the fetuss potential health outcomes.
As with other types of genetic testing, these can be broken down into either screening or diagnostic tests.
Screening tests can reveal a babys likelihood of having certain genetic disorders or birth defects. This type of testing is usually offered in the first or second trimester, according to the Mayo Clinic. Its important to note that the results of screening tests are not definitive diagnoses they just indicate levels of risk.
To get more information, youd have to conduct diagnostic tests. If theres a high risk found in a screening test, if or other factors like the mothers age and family or medical history contribute to an elevated risk profile, more invasive genetic testing might be needed.
It should be noted that some of these tests carry a slight risk of miscarriage.
However, youll generally find you wont have to pay out of pocket for these tests. Most insurance policies provide total coverage of genetic testing during pregnancy, especially if the mother is over 35 years of age.
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Coverage Of Breast Cancer Screening And Prevention Services
Among women in the United States, breast cancer is the most commonly diagnosed cancer and the second leading cause of cancer death. In 2016, an estimated 3.5 million women in the U.S. were living with breast cancer. The Affordable Care Act and many state laws have provisions that assure that most women with private insurance, Medicaid, and Medicare have coverage for breast cancer screening services. This typically includes screening mammography for the general population of women, but also can include genetic testing and preventive medications for high-risk women over the age of 35. This factsheet discusses breast cancer screening and prevention services, and reviews the scope of private and public insurance coverage, as well as access to those services for women in the US.
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Inherited Gene Mutations That Increase Breast Cancer Risk
Most women who get breast cancer dont have an inherited gene mutation.
In the U.S., 5-10 percent of breast cancers are linked to an inherited gene mutation . About half of these breast cancers are linked to a BRCA1 or BRCA2 gene mutation .
The lifetime risk of breast cancer is increased 20-49 percent for women with moderate-risk inherited gene mutations and 50 percent or more for women with high-risk inherited gene mutations.
Inherited mutations in any of these genes can increase the risk of breast cancer:
Most of these gene mutations also increase the risk of other cancers.
BRCA1/2 gene mutations are the most well-known of these high-risk gene mutations. The others are less common and theres still much to learn about them. Most dont increase the risk of breast cancer as much as BRCA1/2 gene mutations do.
Some inherited gene mutations have only recently been shown to increase the risk of breast cancer. Data on these mutations and their related cancer risks are still emerging and will likely change over time.
Learn more about inherited gene mutations and breast cancer risk.
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Does Insurance Pay For Genetic Testing For Breast Cancer
Insurance pays for genetic testing for breast cancer as long as the person meets the criteria. This includes having a family history of breast cancer or a family history of cancer, such as pancreatic cancer or ovarian cancer. While oncology costs are much more expensive than gene testing by most laboratories in the United States, insurance companies are often charged a lot of money for the test, which is why they are strict with insurance coverage.
Higher risk individuals such as those of Ashkenazi Jewish descent, history or breast cancer, or history of ovarian cancer often receive coverage for breast cancer genetic testing. These risk factors increase their susceptibility to a cancer diagnosis.
Health insurance doesnt always cover 100% of the cost of a DNA test. A co-pay may be required, which is usually a percentage of the total cost. Every health insurance provider has its own costs for breast cancer genetic testing and policies differ greatly.
Talking To Your Family
If your test shows that you have a faulty inherited gene, some members of your family may also be at risk of having that gene. They may also need to have testing. It is helpful to think through how you would feel about this and what it would mean for them.
It is worth thinking about who you might need to tell once you know the result. Talking to your genetic counsellor can help you to work this out.
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What Do I Ask The Doctor
Visiting the doctor can be stressful. It helps to have questions written down ahead of time. Print these questions and take them with you when you visit the doctor. You may also want to ask a family member or close friend to go with you to take notes.
- What is my risk of developing breast or ovarian cancer?
- Are there warning signs I can look out for?
- Based on my health history and my family history, would you recommend genetic testing to learn more about my risk?
- What are the benefits and risks of genetic testing?
- What are my chances of having a mutated gene that could increase my risk for cancer?
- What would a positive or negative test result mean for me?
- If I have a mutated gene, what are my options for managing my risk?
- If I have a mutated gene, what would it mean for my children’s health?
- If I have a mutated gene, what does that mean for other members of my family?
- If I get geneting testing, who will be able to see my test results?
- Besides mutated genes, what other things increase my risk for breast and ovarian cancer?
- If I decide not to do genetic testing, what types of cancer screening tests are recommended to check for breast and ovarian cancer?
- Is there information I can take with me about genetic testing?