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Is Genetic Testing For Breast Cancer Worth It

What Are The Potential Problems With Genetic Testing

Genetic Test For Breast Cancer: How Much Does It Cost?

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.

Is Genetic Breast Cancer Testing Of All Women Worth The Cost

Women who are carriers of the BRCA-1 gene or the BRCA-2 gene have a significantly higher risk for developing breast and ovarian cancers than those who do not have the mutated gene. Genetic testing can determine whether a woman carries one of the genes but at a costthe most widely used test, the BRCA genetic test, marketed by Myriad Genetics, sells for about $4,000. Thus, UCLA researchers conducted a study to determine whether administering the test to all women, including those who do not have cancer or have no family history of the disease, was worth the cost. They published their findings in the journal JAMA Oncology on September 3.

The researchers note that cancer-causing mutations in the BRCA-1 and BRCA-2 genes are usually found in families who are affected by breast and reproductive system cancers , and carriers can pass the mutated genes to both daughters and sons. They compared the overall cost-effectiveness and benefit of screening all women in the United States for BRCA-1 or BRCA-2 to other diagnostic tools, and found that these existing procedures continue to be more efficient and possibly a better use of limited resources. In addition, they found that for 99.75% of women screened for BRCA-1 or BRCA-2, a negative genetic test did not offer an increase in life expectancy, does not eliminate the need for regular mammograms, and may provide false reassurance that a woman is not at risk for breast cancer.

Diy Tests: Important Considerations

Do-it-yourself genetic test kits are convenient and more affordable than clinical tests, but it’s important to know they are not as reliable as a laboratory test. Labs used by medical professionals must follow federal regulations regarding testing procedures, quality control, and staffing, and the same does not apply to these kits. The U.S. Food and Drug Administration cautions that at-home tests should not be considered substitutes for being assessed by your doctor, and DIY results should always be clinically confirmed.

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Other People Who May Benefit From Genetic Counseling And Testing

You may benefit from additional genetic counseling and expanded genetic testing if you had genetic testing in the past, you tested negative, and the following applies to you:

  • your situation matches any of the above, and
  • you had a test that only looked for one or a few genes, or
  • you had genetic testing before 2014. Genetic testing has improved, and laboratories can now find gene mutations that may have previously been missed.

Breast cancer survivors and those in treatment should speak with a genetics expert to see if testing is right for them.

The Case For Genetic Testing

Is Genetic breast cancer testing of all women worth the ...

If you were tested over three or five years ago, you should consider getting tested again in light of the recent advances that have taken place. Genetic testing for breast cancer has the potential to increase the health and longevity of women and men around the country.

If you have questions about the MedStar Georgetown Cancer Institute or are ready to schedule a consultation with one of our specialists, call us at 202-295-0513 or click the request a consultation button.

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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

When A Family Member Has An Inherited Gene Mutation

Just because one person in the family has an inherited gene mutation doesnt mean everyone in the family has the mutation. Only identical twins have the exact same genes. Other family members share some, but not all, of their genes.

For example, if your mother has a BRCA1 gene mutation, theres a 50 percent chance youll have a BRCA1 mutation .

If your family members with breast cancer or ovarian cancer arent alive or arent willing to be tested , a genetic counselor can help you decide if it would be useful to have BRCA1/2 testing or expanded panel testing.

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Considering Genetic Counseling And Testing For Breast Cancer Risk

If you have breast cancer or a 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 a BRCA mutation. But the 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 or not 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.

Its very important to understand what genetic testing can and cant tell you, and to carefully weigh the benefits and risks of genetic testing before these tests are done. Testing can cost a lot, and it might not be covered by some health insurance plans.

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.

Is Genetic Testing Of All Women For Breast Cancer Worth The Cost

Genetic Testing for Cancer: Is It Worth It?

UCLA Anderson Assistant Professor of Decisions, Operations & Technology Management Elisa Long has been candid about her own experience, at age 33, with triple negative breast cancer the kind that means the tumor is estrogen receptor-negative, progesterone receptor-negative and human epidermal growth factor receptor 2 -negative. As Long remarked on her diagnosis, The modern, targeted therapies that have saved thousands of lives would not help me.

Long has no history of breast cancer but she found out she carries a mutation in the BRCA1 gene, whose positive function is to help repair damaged DNA. In its mutated form, however, the gene results in a lifetime 50 to 80 percent chance of breast cancer and a 40 to 50 percent chance of ovarian cancer. Only 1 in 400 women of non-Jewish descent carry a BRCA mutation. To put that in perspective, Long recently wrote in the Washington Post, gaining admission to Harvard is 26 times more likely than carrying my mutation.

Longs new research with UCLA oncologist Patricia Ganz, published in JAMA Oncology, is based on studies analyzing the cost-effectiveness of this kind of breast cancer testing for all women. The authors write:

Long and Ganz’s findings have made news in many forums, from the UCLA Newsroom to New York Magazine.

Is there hope that aggressive testing for BRCA mutation will come down in cost? Long and Ganz indicate that other companies are working toward an affordable test that maintains profit margins:

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What Is Genetic Testing

This type of testing is done to determine if a person has a specific mutation that puts them at a higher risk of developing cancer.

Genetic testing can be done on samples of blood or saliva, or from a swab of the inside of a cheek, according to the American Cancer Society. The samples are sent to a lab for testing.

Genetic testing for cancer is usually done in a doctors office , but there are a few tests available for people to purchase commercially.

Variant Of Uncertain Significance

A VUS test result is not conclusive. However, most of the time, minor changes in a gene turn out to be normal variants. Most VUS results do not impact the genes ability to work, meaning they dont increase the risk of breast cancer. VUS results are usually treated similar to negative results.

VUS results are much more common with expanded panel testing than with BRCA1/2 genetic testing. Panel testing looks at many genes . With more genes in the test, its more likely youll get a VUS.

Over time, the lab may clarify the meaning of the VUS and send an updated test report to the health care provider who ordered the test. You should be notified if the VUS gets updated.

You can also check with the health care provider who ordered the test every 1-2 years to see if there is any new information about the VUS. While this may seem like a long time to wait, the information isnt likely to change very often.

A VUS test result can be confusing. If you have any questions about a VUS result, meet with a genetic counselor to go over the results.

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When To Get Testing Done

Not everyone is a candidate for genetic testing. In fact, only about 5% to 10% of all cancers are considered hereditary, although it varies by the specific cancer.

About one in 400 women have a BRCA1 or BRCA2 mutation, although those of Ashkenazi Jewish heritage have a higher risk: one in 40. Lynch syndrome affects approximately one in 270 people and causes about 3% to 5% of colon cancers and 2% to 3% of uterine cancers.

To determine if you have a gene mutation, first gather your family history and see your doctor, said Susan Brown, senior director of education and support at Susan G. Komen.

If your health-care provider thinks you might have a hereditary mutation, you’ll be referred to a genetic counselor, who may order a blood or saliva test.

“It’s an easy test,” Brown said. “The ramifications of the results can be a little more complicated.

“If you have a positive mutation, then you have to think about what you are going to do with that information.”

Testing costs anywhere from a couple hundred dollars to several thousand dollars and may be covered by insurance. The multigene panel is pricey, since it surveys a number of genes.

If someone in your family has already been diagnosed with a specific mutation, you can be tested for that mutation alone, which is a lot cheaper. For those who don’t have health insurance, many of the gene-testing companies have programs that bring the cost down to $250 to $300.

Some tests may only check for a few mutations.

When Is Genetic Testing Not Recommended

Genetic Testing for Breast Cancer: What Does The BRCA1 ...

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 .

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How Accurate Is Genetic Testing For Breast Cancer

Generally speaking, genetic testing is quite accurate at detecting known genetic variants. But these tests cannot tell you whether youll eventually develop breast cancer.

Receiving a positive result means that, compared to the general population, youre at an increased risk of developing breast cancer. Different gene variations can be linked to different levels of risk.

A positive result doesnt mean that youre certain to get breast cancer in the future. In fact, its possible youll never develop breast cancer. Your genetic counselor can give you a better idea of your breast cancer risk.

Similarly, a negative result doesnt mean that youll never develop breast cancer.

Tests dont always cover a broad range of gene variations. Its possible that you may have a harmful variation that wasnt covered by your test.

Test Has Serious Limitations

Most genetic testing requires a doctors prescription. But the new 23andMe test, which costs about $200, is the only one approved by the FDA for direct-to-consumer genetic testing so far. The mutations it tests for, which happen in genes known as BRCA 1 and 2, are most common in people of Eastern European Jewish ancestry. But the results dont rule out the presence of any of more than 1,000 other mutations of those genes, the FDA says. And these three mutations included in the 23andMe test are not the most common BRCA1/BRCA2 mutations in the general population.

Were still learning what the mutations are, Lichtenfeld says. Were still learning what the mutations mean, and were still learning what impact particular mutations may have for a particular individual. Just because its there doesnt mean its going to happen.

Its the second approval for the company, after an April 2017 decision that allowed it to reveal to buyers whether they carry genes related to 10 other health problems, including degenerative diseases like Alzheimers or Parkinsons. Industry analysts say the market for direct-to-consumer genetic tests could top $300 million within 5 years.

Art Caplan, head of medical ethics at New York Universitys medical school, says he was surprised the FDA approved the 23andMe application to test for breast cancer mutations, given the limits of the testing.

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Breast Cancer Risk Reduction Guidelines For People With High

If you have a BRCA1/2 inherited gene mutation, there are options to help lower your risk. Discuss these options with your health care provider.

Women with certain other high-risk gene mutations may also consider risk-lowering drugs or preventive surgery to lower their risk of breast cancer. However, risk reduction guidelines for women with other high-risk gene mutations are less clear than those for women with BRCA1/2 mutations. As more is learned about these mutations, guidelines can be more personalized.

Whether or not you have a gene mutation related to breast cancer, there are things you can do to help lower your risk.

If you have a BRCA1/2 inherited gene mutation, talk with your health care provider about the pros and cons of these options.

There are risk reduction guidelines for women with some of the other high-risk gene mutations. However, these guidelines may be less clear than those for women with BRCA1/2 mutations. As more is learned about these mutations, guidelines can be more personalized.

If you have a high-risk gene mutation, talk with your health care provider about whether a risk-lowering drug or preventive surgery may be an option for you.

Take your time. Dont feel you need to rush to make a decision.

Learn more about options for women at high risk.

How Does Genetic Testing For Breast Cancer Work

What Does It Cost to Get BRCA Gene Testing?

Genetic testing for breast cancer risk typically uses a sample of blood, saliva, or cells from the inside of your cheek. After the sample is collected, its sent to a lab specializing in genetic testing to be analyzed.

Several gene variations that increase breast cancer risk have been found. The most important are those in the BRCA1 and BRCA2 genes. 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.

Other gene variants that may raise breast cancer risk include:

  • PALB2
  • PTEN
  • TP53

Gene variations that can be detected may vary by test. For example, some tests may only cover the most common variations, while others may be more extensive.

Once your sample is submitted, youll receive your results in 2 to 4 weeks. A healthcare professional or genetic counselor will contact you and discuss your results.

Results you can receive include:

  • Positive: A known gene variation that increases your risk of breast cancer was detected.
  • Negative: A known gene variation that raises your risk of breast cancer was not detected.
  • Variant of unknown significance: A variant has been found in a gene, such as BRCA1 or BRCA2, but its impact on breast cancer risk is currently unknown.

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