The Who, What, Where, When and Sometimes, Why.

Genetic Counseling and Genetic Testing

Genetic testing gives people the chance to learn if their breast cancer or family history of breast cancer is due to an inherited gene mutation.

This section provides information on genetic counseling and the benefits and risks of testing for inherited gene mutations that increase breast cancer risk. It also has information on direct-to-consumer genetic testing, testing for multiple high-risk gene mutations (expanded panel testing) and other related topics.

Inherited gene mutations that increase breast cancer risk

Most women who get breast cancer don’t have an inherited gene mutation.

In the U.S., 5-10 percent of breast cancers are linked to an inherited gene mutation [4,28]. About half of these breast cancers are linked to a BRCA1 or BRCA2 gene mutation (BReast CAncer genes 1 and 2) [354].

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:

  • ATM
  • BARD1
  • BRIP1
  • BRCA1
  • BRCA2
  • CDH1
  • CHEK2
  • NBN
  • NF1
  • PALB2
  • PTEN
  • RAD51C
  • RAD51D
  • STK11
  • TP53

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 there’s still much to learn about them. Most don’t 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 genetic testing for moderate-risk and high-risk inherited gene mutations.

Learn more about inherited gene mutations and breast cancer risk.

BRCA1/2 inherited gene mutations and cancer risks

BRCA1/2 inherited gene mutations increase the risk of breast cancer, ovarian cancer (in women), prostate cancer (in men), pancreatic cancer and melanoma (BRCA2 mutations only) [4,28].

Learn about options to lower the risk of breast cancer and ovarian cancer in women with BRCA1/2 gene mutations.

Learn more about BRCA1/2 gene mutations and cancer risks in women.

Learn more about BRCA1/2 gene mutations and cancer risks in men.

Genetic testing

In the past, breast cancer genetic testing only checked for inherited gene mutations in BRCA1 and BRCA2 genes.

Now it’s common to be tested for BRCA1/2 and multiple other high-risk gene mutations. This is called expanded panel testing or multi-gene testing.

If you’ve only had genetic testing for BRCA1/2 gene mutations in the past, you may be advised to have panel testing.

Panel tests look at 28-84 genes, depending on the specific test. Researchers are studying how information about high-risk and moderate-risk gene mutations can help health care providers personalize medical care.

BRCA1/2 testing or panel testing should only be done in a medical setting. And, it should only be done after a detailed discussion of the risks and benefits with a genetic counselor or a trained provider, such as a doctor or nurse.

Learn about genetic test results

Who should consider genetic testing?

When is genetic testing recommended?

The National Comprehensive Cancer Network (NCCN) only recommends BRCA1/2 or expanded panel genetic testing for certain people with an increased risk of having an inherited gene mutation related to breast cancer. This includes people with [155]:

  • 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 (breast cancer that is estrogen receptor-negative, progesterone receptor-negative and HER2-negative) diagnosed at age 60 or younger
  • 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 (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece or first cousin) diagnosed with breast cancer at any age
  • A personal history of breast cancer at any age and a close family member diagnosed with breast cancer at age 50 or younger
  • A personal history of breast cancer at any age and 2 or more close family members diagnosed with breast cancer at any age
  • A family member (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew or niece) diagnosed with breast cancer at age 45 or younger
  • A personal or family history of ovarian cancer, pancreatic cancer, aggressive prostate cancer or metastatic prostate cancer at any age
  • A personal or family history of male breast cancer

If you’ve been diagnosed with breast cancer and the tumor was tested for gene mutations

Sometimes, breast cancer tissue is checked for tumor gene mutations. Every cell in a breast tumor has genes. These genes contain the blueprints for the cancer.

These gene mutations are in the breast cancer, not in the person. However, sometimes tumor testing finds a BRCA1/2 or other gene mutation in the tumor that could also be an inherited gene mutation. In these cases, genetic testing for the person may be done [155].

If you have metastatic breast cancer

The National Comprehensive Cancer Network recommends everyone diagnosed with metastatic breast cancer get genetic testing for BRCA1 and BRCA2 inherited gene mutations [4]. People who have an inherited mutation in one of these genes may have a PARP inhibitor drug included in their treatment plan [4].

As more is learned and breast cancer treatment becomes more personalized, inherited gene mutations may help guide other parts of breast cancer treatment.

If you were diagnosed with breast cancer in the past

If you were diagnosed with breast cancer in the past and were only tested for BRCA1/2 inherited gene mutations (but not other inherited gene mutations related to breast cancer risk), the NCCN recommends you consider expanded panel testing.

Testing may give you information about your risk of developing another cancer.

Panel testing may also help your family members better understand their risk of breast cancer and other cancers. In some cases, panel testing may help tailor their cancer screening.

In most cases, genetic testing results won’t likely impact your breast cancer treatment (if you’re still in treatment) or follow-up care. However, people with metastatic breast cancer who have a BRCA1/2 gene mutation may have a PARP inhibitor drug included in their treatment plan [4].

Talk with your health care provider or a genetic counselor about whether it would be useful to have panel testing.

When may genetic testing be considered?

Although some people don’t meet the criteria above for recommended genetic testing, genetic testing may still be appropriate. Genetic testing may be considered for people with [155]:

  • A personal history of bilateral breast cancer (cancer in both breasts), first diagnosed at age 50-65
  • Ashkenazi Jewish heritage
  • A 2½ – 5 percent (or higher) chance of having a BRCA1/2 inherited gene mutation, based on risk assessment models that use family history to estimate risk

When is genetic testing not likely to be useful?

Genetic testing is unlikely to find a gene mutation that impacts risk reduction, screening or treatment in [155]:

  • Women diagnosed with breast cancer after age 65 who don’t have a close family member with breast, ovarian, pancreatic or prostate cancer
  • Men diagnosed with early stage or slow-growing prostate cancer who don’t have a close family member with breast, ovarian, pancreatic or prostate cancer

When is genetic testing not recommended?

There’s 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 (and the breast cancer occurred at an older age).

Although you always have the option of being tested, in most cases, genetic testing isn’t recommended when there’s a very low chance of finding a mutation. It’s strongly recommended you speak with a genetic counselor (or other health care provider trained in genetic counseling) 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 [4,28].

A genetic mutation found on a direct-to-consumer test

If a direct-to-consumer (at-home) genetic test shows you have a BRCA1/2 or other inherited gene mutation linked to breast cancer, meet with a genetic counselor (or other trained health care provider) to go over the test results.

In many cases, you’ll be recommended to get re-tested or have expanded panel testing done in a clinically-approved lab [155]. You can get this testing through your doctor or a genetic counselor.

Learn more about direct-to-consumer genetic testing.

Talking with your health care provider

If you have questions about BRCA1, BRCA2 or other high-risk inherited gene mutations or are considering genetic testing, talk with your health care provider.

Your health care provider can help you understand your breast cancer risk and can refer you to a genetic counselor if needed.

Susan G. Komen®‘s My Family Health History Tool

My Family Health History tool is a web-based tool that makes it easy for you to record and organize your family health history. It can help you gather information that’s useful as you talk with your doctor or genetic counselor.

Online tools to help you talk with your health care provider 

There are a few online tools to help you talk with your health care provider about your risk of having a BRCA1/2 inherited gene mutation and your risk of breast cancer.

Keep in mind online tools can’t tell you whether or not you have a BRCA1/2 gene mutation or if you will get breast cancer. However, they may help you talk with your health care provider or a genetic counselor about these risks.

Genetic counseling before genetic testing

Genetic counselors

It’s strongly recommended you speak with a genetic counselor (or other health care provider trained in genetic counseling) before deciding whether to be tested for BRCA1, BRCA2 or other inherited gene mutations related to breast cancer. A genetic counselor can discuss the benefits and risks of testing with you.

People who meet the criteria above should strongly consider testing. In certain cases, people who don’t meet the criteria above may also wish to consider testing. A genetic counselor can help you determine whether genetic testing would provide you with useful information.

For more information on genetic counseling, visit the National Cancer Institute’s website (or call 1-800-4-CANCER) or visit the National Society of Genetic Counselors’ website.

The National Society of Genetic Counselors also has an online directory to help you find a genetic counselor.  

Weighing the risks and benefits of genetic testing

A health care provider or genetic counselor can talk with you about the risks, benefits and issues you may face when you’re considering genetic testing.

Testing for BRCA1, BRCA2 and other inherited gene mutations only requires a blood or saliva sample. However, there can be physical, emotional and financial impacts of knowing whether or not you have an inherited gene mutation. That’s why it’s important to carefully consider whether you want to be tested. 

Genetic testing is especially helpful for people who fall into one of the categories listed above.

Even if it’s recommended, genetic testing is a personal decision. A genetic counselor can help you decide if genetic testing is right for you (and whether the findings could be helpful for other family members). If you decide to get tested, your genetic counselor can help you choose the test that meets your needs.

For more information on genetic counseling, visit the National Cancer Institute’s website (or call 1-800-4-CANCER) or visit the National Society of Genetic Counselors’ website.

Learn about genetic test results.

How does genetic testing work?

Testing for BRCA1, BRCA2 and other inherited gene mutations requires a blood or saliva sample.

It’s best to have genetic testing done in a clinically-approved lab certified by the Clinical Laboratory Improvement Amendments (CLIA) [155]. You can get this testing through your health care provider or a genetic counselor.

Your health care provider or a genetic counselor can help you understand the test results and give you the most up-to-date medical recommendations.

If you use a direct-to-consumer genetic test, have the findings confirmed by genetic testing done in a clinically-approved lab certified by the CLIA [155]. This ensures the results are complete and correct. Your health care provider or a genetic counselor can arrange this testing for you.

BRCA1/2 genetic testing or expanded panel testing

In most cases, the first person tested is the family member with breast cancer (or related cancer, such as ovarian, pancreatic or metastatic prostate 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 that’s the case, they should consider targeted gene testing for the specific gene mutation or expanded panel testing that includes the mutation.

When a family member has an inherited gene mutation

Just because one person in the family has an inherited gene mutation doesn’t 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, there’s a 50 percent chance you’ll have a BRCA1 mutation (you get half of your genes from your mother and half from your father).

If your family members with breast cancer or ovarian cancer aren’t alive or aren’t willing to be tested (or if your family medical history is unknown), a genetic counselor can help you decide if it would be useful to have BRCA1/2 testing or expanded panel testing.

Learn about genetic test results

Direct-to-consumer genetic testing

What is direct-to-consumer genetic testing?

Direct-to-consumer genetic testing (at-home genetic testing) allows a person to get genetic information without involving a health care provider or insurance company.

A test kit is mailed to you. The test usually involves collecting a DNA sample at home, often by swabbing the inside of your cheek. You send the sample back for analysis and get the results by mail or telephone, or the results may be posted online.

Concerns about direct-to-consumer genetic testing

There are some concerns about using direct-to-consumer genetic testing kits, including:

  • The information they provide has a high rate of error [155,355]. The genetic testing methods used by direct-to-consumer kits haven’t usually been validated for clinical use [155].
  • Testing can be incomplete. They often test only for a few of the many inherited genetic mutations related to breast cancer.
  • Your personal information may not be secure. The Federal Trade Commission recommends you understand how the company uses your information, how it protects the information it collects and whether it shares your information with others [356].
  • You must pay out-of-pocket for the testing (insurance doesn’t cover it).

Before acting on any results from a direct-to-consumer genetic test, have a genetic counselor or trained health care provider review the findings. They may advise you to get the findings confirmed in a clinically-approved lab certified by the Clinical Laboratory Improvement Amendments (CLIA) [155]. Your health care provider or a genetic counselor can coordinate this additional testing for you.

Your health care provider or a genetic counselor can help you understand the test results and give you the most up-to-date medical recommendations.

Talk with your health care provider or a genetic counselor

The process of genetic testing is complex. It’s best to meet with a genetic counselor or a trained health care provider to make decisions about testing. They can help you choose a test that meets your needs.

Your health care provider or a genetic counselor can help you correctly interpret the test results. If the testing was not done in a certified lab, your health care provider can help you get a clinical genetic test to confirm the results.

If clinical genetic testing finds a gene mutation related to breast cancer, your health care provider or a genetic counselor can help you make informed decisions about breast cancer screening and any risk-lowering options that may be right for you.

Learn about genetic test results.

Genetic test results

Genetic test results show if there’s an inherited gene mutation related to breast cancer in the BRCA1, BRCA2 or other gene that increases risk.

There are 3 possible results:

Benign or likely benign variant (the test is negative, meaning the results are normal). The test shows no gene mutations linked to an increased risk of breast cancer.

Pathogenic or likely pathogenic variant (the test is positive). The test shows a gene mutation linked to an increased risk of breast cancer.

Variant of uncertain significance (VUS) (the test is probably negative, but is not conclusive). The test shows a minor change in the gene that needs more study.

Variant of uncertain significance (VUS)

A VUS test result is not conclusive. However, most of the time, minor changes in a gene turn out to be normal (benign) variants. Most VUS results do not impact the gene’s ability to work, meaning they don’t 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 (not just BRCA1/2 genes). With more genes in the test, it’s more likely you’ll 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 (or hospital) 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 isn’t 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 (or other trained health care provider) to go over the results.

After you get your results

No matter the results, you may have an emotional response (learn more).

Remember, having a BRCA1/2 inherited gene mutation or other inherited gene mutation that increases breast cancer risk doesn’t mean you will get breast cancer.

Some people with an inherited gene mutation never get breast cancer. And, people without an inherited gene mutation are still at risk. Most women who get breast cancer don’t have an inherited gene mutation or a family history of breast cancer [4].

If you have a BRCA1/2 gene mutation, there are special cancer screening guidelines. There are also options to help lower your risk. Discuss these options with your health care provider.

There are breast cancer screening and risk reduction guidelines for some of the other high-risk and moderate-risk gene mutations. As we learn more about these mutations, guidelines can become 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.

Learn more about a healthy lifestyle and breast cancer risk

Breast cancer screening guidelines for people with high-risk or moderate-risk inherited gene mutations

Learning you have a high-risk or moderate-risk inherited gene mutation allows you to personalize your breast cancer screening plan.

Women with some high-risk or moderate-risk gene mutations are screened more often and start screening at a younger age than other women.

Breast cancer screening for people with BRCA1/2 inherited gene mutations

Learn about breast cancer screening recommendations for women with BRCA1/2 inherited gene mutations.

Learn about cancer screening recommendations for men with BRCA1/2 inherited gene mutations.

Breast cancer screening for women with other high-risk inherited gene mutations

There are special screening recommendations for women with some other inherited gene mutations linked to breast cancer, including:

  • ATM
  • BARD1
  • CDH1
  • CHEK2
  • NF1
  • PALB2
  • PTEN
  • TP53

Data on these gene mutations and their related breast cancer risks are still emerging and will likely change over time as more is learned.

A woman’s personal risk factors and family history of cancer also impact breast cancer screening recommendations.

Learn more about the cancer risks related to these inherited gene mutations.

Breast cancer risk reduction guidelines for people with high-risk inherited gene mutations

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.

Learn more about a healthy lifestyle and breast cancer risk.

Risk-lowering options for breast cancer

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. Don’t feel you need to rush to make a decision.

Learn more about options for women at high risk.

Risk-lowering options for ovarian cancer (for women with a BRCA1/2 inherited gene mutation)

Women who have a BRCA1/2 inherited gene mutation (and certain other high-risk gene mutations) have an increased risk of ovarian cancer. These women may consider prophylactic oophorectomy to reduce their risk of ovarian cancer.

Screening methods to detect early stage ovarian cancer are under study. For this reason, risk-lowering options are recommended.

Learn more about risk-lowering options for women at high risk.

Benefits of genetic testing

Emotional benefits

Testing negative (the test shows no mutation) for BRCA1/2 or other other high-risk inherited gene mutations can bring a sense of relief.

Even if testing finds a gene mutation that increases risk (the test is positive), the results may bring a sense of relief for you and your family. You’ll know why you or your family members developed cancer.

For some people, knowing their result, even if it’s positive (the test shows a mutation), is less stressful than not knowing.

Testing positive for a BRCA1/2 or other high-risk gene mutation may also help you feel empowered. It gives you special breast cancer screening and risk reduction options.

There are also special breast cancer screening guidelines and risk reduction options for women with certain other high-risk gene mutations.

Personal benefits

Knowing you have a high-risk inherited gene mutation allows you to personalize your breast cancer screening plan. For example, women with high-risk gene mutations may need to be screened more often and start screening at a younger age than other women.

Women with BRCA1/2 gene mutations have options to lower their breast cancer risk. 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.

Learn about special screening guidelines for women with a BRCA1, BRCA2, ATM, BARD1, CDH1, CHEK2, NF1, PALB2, PTEN or TP53 gene mutation.

Learn more about risk-lowering options for women with high-risk gene mutations.

Benefits for family members

You can share your test results with family members who may benefit from genetic testing. This gives your adult children and other family members the option of getting genetic testing to learn more about their own risks of cancer. A genetic counselor can help you figure out how to share this information in a way that’s comfortable for you.

Once a BRCA1/2 or other high-risk inherited gene mutation is found, genetic testing is available to family members who are age 18 or older.

If you have a high-risk gene mutation, your children have a 50 percent (1 in 2) chance of having the same mutation. Other family members may also be at risk for having the mutation.

Remember, just because one family member has a gene mutation doesn’t mean everyone in the family does.

Family members who have the gene mutation may have special breast cancer screening recommendations and risk-lowering options.

Psychological and emotional risks of genetic testing

If you’re thinking about having genetic testing, consider the emotional impact of the test results.

Have a high-risk inherited gene mutation (the test result is positive)

Having a BRCA1, BRCA2 or other high-risk inherited gene mutation doesn’t mean you’ll get breast cancer. However, learning you have a mutation can cause worry and anxiety. You may feel overwhelmed by having to make decisions about options that may lower your risk.

People whose test results show they have a BRCA1/2 or other high-risk gene mutation are encouraged to share this information with their family members who may be at risk. Sharing this news can be hard.

If you’re a parent, it may be harder to deal with the possibility you passed an inherited gene mutation to your child, than deal with your own risk.

No high-risk inherited gene mutation (the test result is negative)

Getting a negative genetic test result (no inherited gene mutation is found) is usually seen as good news. Sometimes, though, this news can cause awkward feelings around relatives who’ve had cancer or who’ve tested positive for a BRCA1/2 or other high-risk gene mutation.

Even if you don’t have a mutation, you’re still at risk for breast cancer. Remember, most women who get breast cancer don’t have a high-risk gene mutation or a family history of breast cancer.

Variant of uncertain significance result (an inconclusive result)

Getting a result of a variant of uncertain significance (VUS) can be confusing and frustrating.

With BRCA1/2 testing, most VUS results are later found to be benign variants (don’t increase the risk of breast cancer). However, there’s a small chance the VUS will turn out to be a gene mutation that increases breast cancer risk.

With expanded panel testing, you’re more likely to get a VUS result because more genes are being tested.

Not knowing whether the VUS helps explain your personal or family history of cancer may add to the stress of an already trying process.

Emotional support

If your genetic test results (or the option of genetic testing) upset you, talk with your genetic counselor or your health care provider.

It may also be helpful to discuss these issues with a mental health provider, such as a therapist or a psychologist.

Connecting with other people who have had BRCA1/2 or expanded panel testing may also help.

Contact the Komen Breast Care Helpline at 1-877 GO KOMEN (1-877-465-6636) or helpline@komen.org for information and support. Bright Pink and FORCE offer online information and chat rooms to connect with others who have had or considered BRCA1/2 or panel testing.

Sharsheret offers one-on-one calls with a genetic counselor to discuss genetic testing and related issues for you and your family.

Emotional risks for family members

Genetic testing may also have an emotional impact on family members.

Your genetic counselor may suggest you talk to your family about BRCA1/2 or expanded panel testing before you get tested or before you learn your results. That way you can find out if they want to know about your results.

For people with a BRCA1/2 or other high-risk inherited gene mutation, figuring out how to tell relatives can be hard.

Some family members may value the option of BRCA1/2 or panel testing. Others may be upset, anxious or angry about hearing the news.

If you have concerns about the best way to share the news with your family members, talk with a genetic counselor. You may prefer to write a letter to your relatives (rather than calling or talking face-to-face), especially if you have a big family. Your genetic counselor may be able to help you write this letter.

Other risks of genetic testing

Genetic testing results are confidential.

Protection against discrimination

State and federal laws help protect against genetic discrimination.

The Genetic Information Nondiscrimination Act (GINA) prevents health insurance companies from denying coverage. It also prevents them from charging higher premiums when a person’s genetic profile puts them at a higher risk for certain health conditions.

GINA also protects against genetic discrimination from employers.

However, GINA does not prevent life insurance companies or disability insurance companies from denying coverage.

Learn more about insurance.

Privacy protection

Genetic test results are treated the same as other confidential medical information.

Since BRCA1/2 and expanded panel testing are clinical tests, hospitals usually require the results to be placed in your hospital medical record. These results will be kept confidential, similar to other protected health information.

If you have questions about the confidentiality of your genetic test results, talk with your genetic counselor or your health care provider.

If you use an at-home genetic test (direct-to-consumer genetic testing), your personal information may not be secure. The Federal Trade Commission recommends you understand how the company uses your information, how it protects the information it collects and whether it shares your information with others [356].

Genetic testing costs

Check with your health insurance company to find out whether the costs of genetic counseling and genetic testing are covered in your plan.

Most insurance plans cover the cost of BRCA1/2 testing if you meet the criteria for testing. Coverage of expanded panel testing varies from plan to plan.

Genetic counseling is usually covered if you meet the criteria for testing or have a personal or family history of cancer.

A genetic counselor can help you determine if your insurance will cover BRCA1/2 or panel testing.

Learn about steps to take if your insurance company denies your claim for genetic testing.

Affordable Care Act coverage

The Affordable Care Act requires insurance plans that began on or after August 1, 2012 to cover genetic testing costs (when testing is recommended by a health care provider).

If you have a BRCA1/2 inherited gene mutation, the Affordable Care Act also requires coverage of counseling to help you decide if taking a medication to lower the risk of breast cancer is right for you.

Financial assistance

If your health care provider recommends BRCA1/2 testing, but you don’t have insurance or your insurance plan doesn’t cover genetic testing costs or you can’t afford the co-payment, there may be financial assistance programs to help.

Most labs have a self-pay rate of $300 or less. You may also qualify for financial assistance through the lab or the cancer genetic testing program at your hospital.

Most of the major labs that do BRCA1/2 and expanded panel testing have financial assistance programs such as:

FORCE offers a list of genetic testing companies with financial assistance.

Direct-to-consumer (at-home) genetic testing costs

Insurance doesn’t cover the cost of direct-to-consumer (at-home) genetic testing.

Clinical trials

People with a BRCA1, BRCA2 or other high-risk inherited gene mutation may have the chance to join breast (and ovarian) cancer research studies (called clinical trials) on new screening, risk reduction and treatment methods.

The NCCN encourages people with a BRCA1/2 gene mutation to consider participating in cancer screening and imaging clinical trials.

Susan G. Komen® Breast Care Helpline

If you or a loved one needs information or resources about clinical trials, call our Breast Care Helpline at 1-877 GO KOMEN (1-877- 465- 6636) or email clinicaltrialinfo@komen.org.

BreastCancerTrials.org in collaboration with Susan G. Komen® offers a custom matching service to help find clinical trials on risk reduction.

You can also visit the National Institutes of Health’s website to find clinical trials.

Learn more about clinical trials.

Support

People who have a BRCA1, BRCA2 or other high-risk inherited gene mutation may benefit from joining a support group.

There are support groups for people with BRCA1/2 gene mutations who have not had cancer and support groups for people with BRCA1/2-related cancers.

Our Support section offers a list of resources to help find local and online support groups.

For example, Bright Pink and FORCE offer online support for people at higher risk of breast cancer related to family history or inherited gene mutations.

Sharsheret offers online support for Jewish women affected by hereditary breast and/or ovarian cancer. It also offers one-on-one calls with a genetic counselor to discuss genetic testing and related issues for you and your family.

SUSAN G. KOMEN® SUPPORT RESOURCES

  • If you or a loved one needs more information about breast health or breast cancer, call the Komen Breast Care Helpline at 1-877 GO KOMEN (1-877-465-6636). All calls are answered by a trained specialist or oncology social worker in English and Spanish, Monday through Friday from 9:00 a.m. to 10:00 p.m. ET. You can also email the helpline at helpline@komen.org.
  • We offer an online support community through our closed Facebook Group – Komen Breast Cancer group. The Facebook group provides a place where those with a connection to breast cancer can discuss each other’s experiences and build strong relationships to provide support to each other. Visit Facebook and search for “Komen Breast Cancer group” to request to join the closed group.
  • Our fact sheets, booklets and other education materials offer additional information.

Updated 03/08/21