Who Can Be Tested For Inherited Faulty Genes
You may be eligible for an NHS genetic test if cancer runs in your family and you are worried you may get it too. The test can tell you whether you have inherited a faulty gene that increases your risk of cancer.
Testing for genes that increase the risk of cancer is called predictive genetic testing. A positive result means you have an increased risk of developing cancer. But it doesn’t mean that you have cancer or will definitely develop it.
You may be eligible for an NHS genetic test if:
- an inherited faulty gene has already been found in one of your relatives or
- there is a strong family history of cancer in your family
You need to be referred for genetic testing by a specialist doctor .
You can have private genetic testing. But you need to think about this carefully. You can find out more about private genetic testing at the bottom of this page.
At the genetic clinic, you see a genetic specialist or counsellor. They will:
- look in detail at your family history
- work out your risk of developing cancer
- work out whether you need a genetic test
Your first appointment might be at the clinic or over the phone. During this meeting, the counsellor will ask you questions about any members of your family who have had cancer. And how old they were when diagnosed.
Your genetic clinic appointment is your chance to ask questions. If youre not sure what to ask you can look at our questions for your doctor.
You could print them out and add any other questions that you might have.
How Many People Have Brca1
According to the National Cancer Institute, about 1 in 400 people have a harmful BRCA variation. About 55 to 72 percent of females with harmful BRCA1 and 45 to 69 percent of females with harmful BRCA2 variations will develop breast cancer by age 80. Their risk of getting breast cancer in the other breast is also higher.
Considering Genetic Counseling And Testing For Breast Cancer Risk
If you’re concerned about your risk because of a personal or family history of breast cancer, talk with your doctor. As a first step, your doctor might use one of several risk assessment tools that are now available. These mathematical models use your family history and other factors to help give you and your doctor a better idea about your risk of having an inherited BRCA gene mutation. But these assessment tools aren’t perfect, and each one might give different results, so doctors are still trying to figure out how best to use them.
Regardless of whether one of these tools is used, your doctor might suggest you could benefit from speaking with a genetic counselor or other health professional who is trained in genetic counseling. They can review your family history in detail to see how likely it is that you have a family cancer syndrome such as HBOC. The counselor can also describe genetic testing to you and explain what the tests might be able to tell you, which can help you decide if genetic testing is right for you.
Genetic testing is covered by many health insurance plans, but it might not be covered by some of them.
If you do decide to get tested, the genetic counselor can also help explain what the results mean, both for you and possibly other family members. To learn more about genetic testing in general, see Genetics and Cancer.
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What Are The Potential Problems With Genetic Testing
Genetic testing is not 100% accurate. If a test is negative, a person still has a chance of getting breast cancer. If the test is positive, there is still a 15% to 20% chance of not getting breast cancer.
Genetic testing is costly, ranging from about $400 to more than $3,000, depending on the type of test. Insurance coverage varies.
The results of genetic tests won’t be available for several weeks. The length of time it takes to get results depends on the tests performed and under what circumstances they are done.
Genetic testing is very controversial. Legislation has been enacted to protect people who may have a documented genetic risk of cancer from employment or insurance problems. The best thing you can do is to become involved with an established genetic registry that can counsel people who have a genetic risk for cancer.
Implication For Nursing Practice
Genetic testing will be increasingly important in the prevention, diagnosis, and treatment of breast cancer. Oncology and advanced practice nurses need to understand risk factors, significance of various genetic tests, and patient counseling.
Genetic testing has an important role in hereditary risk assessment for breast cancer. There has been rapid expansion of genetic testing as a result of changes in gene patent laws and improvements in gene sequencing technologies. Oncology nurses and advanced practice nurses are often asked to educate patients about genetic tests, or may need to assess a patients family history to determine whether the patient should be referred for genetic counseling. This article provides oncology nurses and APNs with an overview of genetic tests for hereditary mutations that may increase a patients personal risk of breast cancer.
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Do Altered Genes Only Affect Women
Both women and men can inherit, carry and pass on an altered gene that increases the risk of breast cancer.
While a man with an altered gene is less likely to develop breast cancer himself, he can pass the altered gene on to his children.
When thinking about family history of breast cancer, its important to consider relatives on both the mothers and fathers side of the family.
Taking Precautions To Try To Lessen Cancer Risks
Kalister works at The James as a service line administrator, but he said there was a lot he didnt understand about cancer and genes until he sought out genetic counseling.
Knowing he is positive for a BRCA2 mutation has helped him take precautionary measures. He is more careful about sun exposure than he used to be , and tries to eat more healthful foods.
So far, so good, he said.
Kalister plans to encourage his twin 9-year-old sons, Ian and Colin, to get genetic screening as well when the time comes.
Ill tell them about how its not scary its about how you use that knowledge to your advantage, he said.
Insurance covers most patients for genetic cancer screenings, but it depends on the policy and ones medical and family cancer history, said Byrne.
Testing is very low out of pocket, and for Medicare and Medicaid patients, its usually zero out-of-pocket, she said. Medicaid and Medicare have covered genetic screening for metastatic prostate cancer patients since 2018.
Even if one were to self-pay, the cost of screening is just a few hundred dollars, compared to several thousand dollars a decade or more ago.
Although BRCA is a common genetic cause of cancer, it is not the only one. Byrne says she typically tests for a suite of 12 other genes, in addition to the two BRCAs.
Some genes that cause cancer including prostate cancer may have yet to be discovered.
There must be something else going on, said Byrne.
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Does Health Insurance Cover The Cost Of Genetic Testing For Brca1 And Brca2 Variants
People considering BRCA1 and BRCA2 variant testing may want to confirm their insurance coverage for genetic counseling and testing. Genetic counselors can often help answer questions about insurance coverage for genetic testing.
Some genetic testing companies may offer testing for inherited BRCA1 and BRCA2 variants at no charge to patients who lack insurance and meet specific financial and medical criteria.
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.
How Genetic Test Results May Influence Treatment Decisions
If youve already been diagnosed with breast cancer, genetic test results may identify the reason for your cancer and influence treatment decisions, such as which surgical procedure or what kind of follow-up is recommended .
Some patients are confident about their surgical and other treatment decisions regardless of what genetic testing shows. Others use genetic testing to guide their treatment plan.
When it comes to breast surgery, for example, some patients who know they have a higher chance of developing a second breast cancer decide to have more extensive surgery, such as a mastectomy or a double mastectomy. Conversely, when others discover they dont have a BRCA or other mutation, they sometimes decide to have a lumpectomy to remove the tumor instead of a double mastectomy to remove both breasts.
Knowing this information prior to surgery may help some people make a decision they wouldnt otherwise have made, or it may allow them to make a decision with more confidence.
The results of genetic testing sometimes allow the oncologist to consider other treatments, such as targeted therapy and different types of chemotherapy, that may not otherwise have been an option.
Can Children Have A Cancer Gene Test
Children under the age of 18 cannot usually be tested. This is because anyone having a genetic test needs to be old enough to make their own choice about whether to have the test or not. They also need to be able to understand the possible benefits and risks that having the test might have on them and their family members.
The exceptions to this are tests for genes that can cause cancer at a young age and for which there is screening that works well. These include:
familial adenomatous polyposis
What Are Your Risk Factors
Talk to your health care provider today about yourbreast cancer risk factors and what you can do about them. Tools can be used to help estimate your risk, allowing you to set up a personalized prevention and screening plan.
Find a physician to discuss your breast cancer risk factors or recommend a genetic counselor.
To schedule an appointment with one of New Jerseyâs best breast cancer specialists call or.
“I feel very comfortable that going forward that I am under the best care.”
The Mental Health treatment helped me to deal with the Cancer.
âShould I kick myself for not getting it checked earlier, well sure, however the battle is here, right now,â
Do You Need Genetic Testing For Breast Cancer
Being able to identify if youre at increased risk for breast cancerbecause of family history is powerful.
Youve seen reports about women with a family history of breast cancer choosing preventive surgery to significantly reduce their breast cancer risk. Since your grandmother, mom or sister has had breast cancer, its got you wondering: Do you need genetic testing to find out if youre more likely to develop the disease?
Being able to identify if youre at increased risk for breast cancer because of family history is powerful, says Banu Arun, M.D., professor in Breast Medical Oncology and Clinical Cancer Prevention, and co-medical director of Clinical Cancer Genetics at MD Anderson. If your chances for developing the disease are higher, you have options to reduce those chances by up to 95%, Arun says.
Yet, most cancer cases arent related to family history. Only about 5 to 10% of cancer cases are related to genetics, Arun says. This means that genes linked to cancer pass from one blood relative to another.
Below, Arun shares the information you need to decide if genetic testing for breast cancer is right for you.
Know your familys cancer history
You can start to understand your risk for inherited breast cancer by mapping your familys cancer history.
Check for these factors to determine if you may be at risk:
Discuss your family history with your doctor
Understand the genes linked to breast cancer
Assess genetic testing pros and cons
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Brca1 And Brca2 Genetic Testing Or Expanded Panel Testing
In most cases, the first person tested is the family member with breast cancer .
- If no mutation is found, the cancer was unlikely due to a BRCA1/2 or other inherited gene mutation included in the test.
- If a gene mutation is found, other family members may have the same gene mutation. If thats the case, they should consider targeted gene testing for the specific gene mutation or expanded panel testing that includes the mutation.
When Is Genetic Testing Recommended
The National Comprehensive Cancer Network only recommends BRCA1 and BRCA2 or expanded panel genetic testing for certain people with a high risk of having an inherited gene mutation related to breast cancer. This includes people with :
- A family member with a BRCA1/2 inherited gene mutation or other high-risk inherited gene mutation related to breast cancer
- A personal or family history of breast cancer at age 45 or younger
- A personal history of triple negative breast cancer diagnosed at any age
- A personal history of lobular breast cancer at any age, and a personal or family history of diffuse gastric cancer
- Ashkenazi Jewish heritage and a personal or family history of breast cancer
- A personal history of breast cancer at age 46-50 and a close family member diagnosed with breast cancer at any age
- A personal history of breast cancer at 51 or older and a close family member diagnosed with breast cancer at age 50 or younger
- A personal history of breast cancer at 51 or older and 2 or more close family members diagnosed with breast cancer or prostate cancer at any age
- A close family member diagnosed with breast cancer at age 45 or younger
- A close family member diagnosed with ovarian cancer, pancreatic cancer or metastatic prostate cancer at any age
- A personal or family history of male breast cancer
Learn about genetic test results.
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Getting The Results Of Genetic Testing
Before getting genetic testing, its important to know ahead of time what the results might or might not tell you about your risk. Genetic testing is not perfect. The tests might not provide clear answers for some people. This is why meeting with a genetic counselor or cancer genetics professional is important, even before being tested.
The results of genetic testing might come back as:
- Positive for a mutation that was tested for. If the test does find an important mutation, there might be steps you can take to help lower your risk of breast cancer . If youve already been diagnosed with breast cancer, a positive result might affect your breast cancer treatment options.
- Negative for the mutation tested for. It can be reassuring to find out that the test didnt find a mutation that increases your risk. But its important to know that genetic test results cant always guarantee that youre not at increased risk. For instance, there might be a chance that you have a gene change that is not currently being tested for.
- Inconclusive. In some cases, the test might not be able to tell for sure if you have a gene mutation.
- Positive for a variant of unknown significance . This means that the test found a gene change , but its not known if this particular change affects your risk.
To learn more about these different types of test results, see What Happens During Genetic Testing for Cancer Risk?
Genetic Counselling And Testing
Genetic counselling is recommended before genetic testing to properly assess an individuals true risk and after testing to discuss the significance of results and advise on strategies to manage them.
Before any testing can take place a genetic counsellor will help you map your family structure and history on both the maternal and paternal sides. This needs to span three generations and each cancer diagnosis in the family must be confirmed.
If your level of risk meets the criteria for testing, the counsellor will discuss the implications of testing with you so you can make an informed decision about whether or not to proceed. For example:
- What are the implications of a positive result? A negative result?
- What if the test doesn’t return a definite result?
- What are the psychological risks and benefits of being tested?
- What are the implications for insurance if a mutation is found?
Harmful gene mutations are relatively rare in the population and they are extremely difficult to detect and interpret, especially in an individual who doesnt have cancer.
Genetic testing is a complex process and geneticists could find a genetic mutation which has not previously been associated with cancer. This type of test result is reported as a genetic variant of uncertain significance because it isnt known whether this particular gene mutation affects a persons risk of developing cancer.
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Questions To Ask Yourself About Genetic Testing
Before having genetic testing, learn about its risks and limitations. Identify your reasons for wanting a test. And consider how you will cope with test results. Here are some questions to help you make a decision:
Do I have a family history of cancer?
Have I developed cancer at an earlier-than-average age?
How will I interpret the results of genetic testing? Who will help me use this information?
Will the test results affect my medical care? The medical care of my family?
If I have a genetic condition, can I lower my cancer risk?
A genetic counselor can help you answer these questions. He or she can give you advice and information about the risks and benefits of genetic testing. A genetic counselor also helps people through the genetic testing process. Learn more about what to expect when meeting with a genetic counselor.