Black Women and Breast Cancer Testing

The Facts to Get You the Care You Deserve

 

FACT#1: There are significant differences in DNA repair genes

A study found significant differences between Black and white women in the expression of DNA repair genes in healthy breast tissue and tumors (Healthline Media). These differences were in both cancerous and healthy tissue.

 

Researchers reported molecular differences in cellular signals that control how cells grow. They also noted that DNA repairs are expressed differently in Black women, a critical factor in the development of cancer.

 

These results show that Black women respond to cancer treatment differently than white women, particularly CDK inhibitor treatment. CDK inhibitors work to stop cell division, a hallmark of cancer.

 

Current guidelines suggest that CDK inhibitors should be used only after seeing progress from standard endocrine therapy.

 

However, this therapy might come too late for some Black women. According to researchers, Black women might benefit from earlier CDK treatment.

 

FACT#2: All patients should have access to genetic testing

Genetic testing should be made available to all patients with a personal history or who are at a higher risk of breast cancer.

 

FACT#3: Standard treatments for breast cancer are less effective for Black women

According to a recent study from the Sanford Burnham Prebys Medical Discovery Institute, research showing genetic differences in breast cells suggests standard treatments for breast cancer are less effective for Black women.

 

This highlights the need for more inclusive data to help fill knowledge gaps and improve treatment plans.

 

Researchers found genes that repair DNA damage signal differently in Black women’s breast cells compared with white women’s cells.

 

The differences are associated with lower survival rates for Black women and could result in less favorable responses to the standard treatment plans that work well in White women.

 

Increasing the representation of Black women in breast cancer clinical trials would help. Black people are underrepresented in cancer clinical trials, making up only 7% of enrollment.

 

FACT#4: Polygenetic risk scores are less applicable to Black patients

Current polygenetic risk scores (PRS) are validated through large genome-wide association studies (GWAS), which are disproportionately comprised of 79% European participants, who make up only 16% of the global population.

 

This highlights that—unlike clinical biomarkers and prescription drugs, which may individually work better in some populations but do not ubiquitously perform far better in European populations—clinical uses of PRS today would systematically afford greater improvement to European descent populations (NIH).

 

Therefore, PRS are less applicable to Black patients, as the predictive value declines with genetic divergence.

 

 

FACT#5: A small percentage of breast cancer is due to an abnormality inherited by a mother or father

Breast cancer is always caused by a genetic abnormality. However, only 5-10% of cancers are due to an abnormality inherited from your mother or father.

 

About 85-90% of breast cancers are due to genetic abnormalities that happen as a result of the aging process and the “wear and tear” of life in general.

 

While a healthy lifestyle may have some impact on reducing your risk of getting breast cancer, it cannot eliminate the risk.

 

 

 

Soul-Filling Our Sisters

 

 

So what are you waiting for?

 

Are you a woman who wants to learn, grow and make a difference in the world? Then we have the program for you!

 

On the 4th Saturday of every month, 11 a.m. – 12:30 p.m. ET, Touch4Life is virtually hosting Soul-filling Our Sisters (SOS)™. These SOS Saturday events will be an opportunity for you to connect with other women who are just like you. We’ll discuss how to make your life more fulfilling and find happiness through self-care.

 

Learn about a new topic, connect with like-minded people and increase your total wellbeing. All this and more, by attending our next event!

 

Ladies, it’s time to step up your game.

 

We know you’re busy, and we don’t want to waste your time. That’s why we’ve designed a program that will help you learn about the topic of total wellbeing – mental, physical and spiritual/social,] and also connect with other women who are interested in the same things.

 

At these webinars, you’ll be able to:

• Learn about a new topic
• Connect with other people who share your interests
• Increase your total well-being (yes, really)

To learn more about this event and how it can help you reach your goals, join our mailing list.

 

Fun-filled Interaction with Women like you! We are a community. Our SOS Format was created by and for Black, Indigenous and other People of Color.  The objective is to learn at least one new tool to help you improve your total well-being.

• Interactive Icebreaker
• Your Learning – Hear from renowned experts in mental, physical and spiritual well being
• Your Voice – Participant Q&A
• Your Action – What will you do differently as a result of SOS
• Giveaways – must be present to win

 

Survey Says…..What the SOS Community Says

 

“This helped me cope with work stress.”

 

“I came to SOS exhausted and overwhelmed.  I left with calm and tools to help me manage being ‘booked and busy’.”

 

“Outstanding use of my Saturday”

 

• 100% of the participants
  • learned something new
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  • Want more SOS programming
  • Will share what they learned with at least one other person

 

• 88% of participants would recommend SOS to a friend

 

Sponsored by Myriad Genetics and High Impact Partners

#MyGenesMyLife

The #MyGenesMyLife initiative is designed by and for Black Indigenous and other People of Color (BIPOC) to ensure that you receive the health care that you deserve. Touch4Life designed this initiative to engage, educate and empower you! There is significant inequity in breast health treatment and outcomes. Being your own health advocate and knowing what to ask for is a critical part of the path to better health outcomes and living a disease-free life.

Differences Between Biomarker/Genomic Testing and Genetic Testing

There are two terms with similar names but do separate things. Biomarker/Genomic Testing and Genetic Testing are two different types of testing that can be used to diagnose breast cancer. Biomarker / Genomic Testing for people diagnosed with breast cancer. It looks for changes in the DNA of the cancer cells themselves, while genetic testing looks for inherited mutations in certain genes that are associated with an increased risk of developing breast cancer.

 

Biomarker Testing is different from Genetic Testing, which is used to find out if someone has inherited mutations that make them more likely to get cancer. Inherited mutations are those you are born with. They are passed on to you by your parents.

 

Biomarker testing helps ensure cancer patients get the right treatment at the right time. It allows doctors to precisely target specific cancer so patients may not have to undergo more generalized treatments like chemo and radiation that may not work as well for them.

 

While biomarkers are often used to help determine the best treatment for a patient, not all communities are benefitting from the latest advancements in biomarker testing and precision medicine.

 

Biomarker testing is an important step for accessing precision medicine including targeted therapies that can lead to improved survivorship and better quality of life for cancer patients. But without action to expand coverage of and access to biomarker testing, advances in precision medicine could increase existing disparities in cancer outcomes by race, ethnicity, income, and geography.

• Have a breast cancer diagnosis? If you have been diagnosed with breast cancer, both Biomarker/Genomic and Genetic Tests are for you.
• No breast cancer diagnosis? To understand your Hereditary risks for breast cancer, Genetic testing is for you.

 

Biomarker Testing for Cancer Treatment

Biomarker testing (also called tumor testing, tumor profiling, or tumor genetic testing) finds changes in your cancer that could help you and your doctor choose your cancer treatment.

 

Biomarker testing is a way to look for genes, proteins, and other substances (called biomarkers or tumor markers) that can provide information about cancer. Each person’s cancer has a unique pattern of biomarkers. Some biomarkers affect how certain cancer treatments work. Biomarker testing may help you and your doctor choose a cancer treatment for you.

 

There are also other kinds of biomarkers that can help doctors diagnose and monitor cancer during and after treatment. To learn more, visit the Tumor Markers fact sheet.

 

Biomarker testing is for people who have cancer. People with solid tumors and people with blood cancer can get biomarker testing.

 

Biomarker testing for cancer treatment may also be called:

• tumor testing
• genomic testing or genomic profiling
• molecular testing or molecular profiling
• somatic testing
• tumor subtyping

 

A biomarker test may be called a companion diagnostic test if it is paired with a specific treatment.

 

Learn More.

Credit: Darryl Leja, NHGRI

 

Biomarker Tests and Cancer Treatment

 

Biomarkers are genes, proteins, or other substances that can be tested to reveal important details about a person’s cancer. There are many known cancer biomarkers, and new ones are being found all the time.

 

Testing for biomarkers might not be helpful for everyone. But for people with many types of cancer, biomarker testing might provide useful information that could affect their treatment options.

 

If a person has been diagnosed with cancer, biomarker testing may show whether:

 

• The cancer is more likely to grow and spread
• Certain cancer treatments are likely (or unlikely) to be helpful
• The cancer treatment is working

 

Biomarker testing is useful in other ways too, including:

 

• Helping to determine if a person might be at higher risk for some types of cancer
• Showing if someone might have a certain type of cancer (although a biopsy is typically needed to know for sure)
• Looking for possible signs of cancer returning

 

Depending on why and how it’s done, biomarker testing for cancer treatment can have different names. If your health care team recommends any of the following, they are recommending tests for biomarkers:

 

• Tumor testing, tumor genetic testing, tumor marker testing, or tumor subtyping
• Genomic testing, genomic profiling, or genome sequencing
• Molecular testing or molecular profiling
• Somatic testing
• Next generation sequencing

 

A biomarker test might also be called a companion diagnostic test if it’s used to help determine if a specific medicine might be helpful.

 

 

Biomarker Tests Can be Helpful for Cancer Treatment

 

Not all cancer cells are alike. Even among people with the same type of breast cancer,  the cancer cells can have different gene changes or different levels of certain proteins that can help the cancer cells grow. These changes might also affect how well cancer responds to certain types of treatment, such as targeted drug therapy and immunotherapy, which work best when the cancer cells have certain features that make them different from normal cells. Some of these differences can be tested as biomarkers.

 

The differences in the features of cancer cells are the basis for how targeted drugs work. Targeted drugs are often designed to attack cancer cells that have certain gene or protein changes. Biomarker testing – that is, checking a person’s tumor cells for these changes – before treatment can help show if these drugs are likely (or unlikely) to be helpful.

 

For example, in some types of cancer, people whose cancer cells have certain changes in the EGFR gene can often be helped with targeted drugs known as EGFR inhibitors. Biomarker testing can be done before treatment to find out if a person’s cancer cells have an EGFR gene change. This can show if an EGFR inhibitor might be helpful in treating their cancer.

 

Cancer medicines aren’t equally effective for all people, regardless of whether they were designed to work against certain biomarkers. As doctors have looked for ways to tell which people might be helped by different treatments, more biomarkers have been discovered that help tells when certain treatments might work.

 

For example, drugs called immune checkpoint inhibitors can often help the body’s immune system attack cancer cells. These drugs can be very helpful in treating some cancers, but they don’t work against others. Since these drugs were first approved, research has shown that they’re more likely to work if a person’s cancer cells have a lot of gene changes (mutations) that make them different from normal cells. Some biomarker tests can look for signs of these changes, such as the cells having a high tumor mutational burden (TMB), or the cells having changes that turn off one of the DNA mismatch repair (MMR) genes (which normally help limit DNA mutations).

 

Some biomarker tests can help show if a person might benefit from more treatment, but they don’t specify if a particular treatment would be helpful.

 

For example, some tests look at patterns of genes (or proteins) in cancer cells to see if the cancer is more likely to return after the initial treatment. If it is, then further treatment might be useful. But if not, a person could be spared from more treatment and its possible side effects.

 

Biomarker testing isn’t helpful yet for all types of cancer. But as more is learned about what causes cancer cells to grow and as new cancer treatments are developed, biomarker testing will likely become even more important in the future.

 

 

Biomarker Testing and Precision Medicine

 

Biomarker testing is an important part of precision medicine, also called personalized medicine. Precision medicine is an approach in which medical care is tailored based on the specific genes, proteins, and other substances in a person’s body.

 

Cancer treatment is typically based on where cancer starts in the body (such as the breast), as well as other factors such as if the cancer has spread. But precision medicine goes beyond choosing treatment based on just the type and extent of cancer. Precision medicine uses biomarkers and other tests to choose treatments that are most likely to be helpful for each person, while at the same time sparing them from treatments that aren’t likely to help.

 

The idea of precision medicine isn’t new. In fact, some treatments based on biomarker testing have been around for decades. But in recent years, as researchers have come to better understand many of the different changes in genes, proteins, and other substances that can make cancer cells grow and spread, they’ve developed many newer cancer treatments and biomarker tests.

 

While progress is being made every day, precision medicine still isn’t part of routine care for people with many types of cancer. This will likely change in the future, as researchers learn more about what makes each type of cancer grow and how this growth can be stopped.

 

 

Types of Biomarker Tests for Cancer Treatment

 

Different types of biomarker tests can be done to help determine the best cancer treatment options:

• Many cancer biomarker tests look for gene changes in the cancer cells, while some tests measure certain proteins or other kinds of markers.
• Some tests look at a single biomarker. Other tests check for many biomarkers at the same time (such as patterns of certain genes or proteins). Some tests can even look at all of the genes inside cancer cells.
• Many biomarker tests are for people with a certain type of cancer. But some tests look for biomarkers that can be found in many different cancer types.
• Many biomarker tests are done on tumor samples removed during a biopsy or surgery. But some biomarker tests can be done on samples of blood or other body fluids. (See “How is biomarker testing done?”)

 

Advocate for Yourself 

Do I need biomarker testing for my cancer?

Ask your doctor if you are going to or have received biomarker testing. If testing has not been done, ask the following;

 

• What is your rationale for not ordering biomarker testing
• What is the “standard of care” for biomarker testing given my breast cancer diagnosis
• How could biomarker testing results guide your treatment decisions, if at all
• When do you recommend that I have biomarker testing
• Will you order a biomarker test for me now

 

If your doctor refuses to order a biomarker test for you, then you may want to seek a second opinion from another care provider.

 

If biomarker testing was completed, ask your doctor the following

 

• What are my results?
  • Write them down
  • It’s ok to ask questions about what each term means
• What do the results tell you?
• How will the results impact my treatment pathway?

 

Download our Patient Advocacy Guide – Questions to Ask Your Doctor.

 

What biomarkers find

For people with breast cancer, biomarker testing is done routinely to help guide treatment decisions.

 

Here are some examples of biomarker tests that might help guide treatment decisions for some of the more common types of cancer:

• Breast cancer: Estrogen receptor (ER) and progesterone receptor (PR) proteins; HER2 gene or protein status; changes in genes such as BRCA1, BRCA2, and PIK3CA
• Changes in NTRK genes; changes in mismatch repair (MMR) genes; levels of microsatellite instability (MSI); tumor mutational burden (TMB)

 

This is by no means a complete list. Some people might not need all of the biomarker tests for their type of cancer, and some people might benefit from getting other tests not listed here. People with other types of cancer might also be helped by biomarker testing. And new biomarker tests are being developed all the time. To learn more about which biomarker tests might be helpful for you, talk to your health care team, or read about your cancer type.

 

Biomarker testing can sometimes be complex, and not all biomarker tests are available at every cancer treatment center. Check with your health care team to see if biomarker testing is available where you get your cancer care, or if your testing might need to be done elsewhere.

 

If your health care team thinks biomarker testing might be helpful for you, it’s also a good idea to check with your health insurance provider to see if they will cover it. (See “How much does biomarker testing for cancer treatment cost?”)

 

How biomarker testing is done

If you and your healthcare team decide biomarker tests are right for you, they will need to get samples of your cancer cells for testing.

 

For a solid tumor (as opposed to a cancer of the blood), they will most likely use the samples taken during a biopsy of the tumor or during surgery. If it’s hard to get a sample for testing, sometimes a blood sample (which often contains parts of tumor cells) can be used instead. This is called a liquid biopsy.

 

Your samples will be sent to a lab, where they will be tested for certain biomarkers. Some cancer centers can do these tests in their own labs, but sometimes tests might need to be sent to a central lab. Once the testing is done, the lab will send back a report that lists the biomarkers in your cancer cells, as well as what this might mean about treatments that could help you. It might take a week or longer to get the results, depending on which tests are being done and if the samples need to be sent out for testing. Your health care team will discuss the results with you to help you understand your treatment options.

 

For some biomarker tests that look at genes, you might also need to give a sample of your healthy cells (usually from a blood or saliva sample). Tests are then done to look for differences between the genes in your cancer cells and your healthy cells. Testing both kinds of cells can show if a change in the cancer cells is a somatic mutation (also known as an acquired mutation) that happened during your lifetime, or if it was an inherited mutation passed down from a parent. (Somatic mutations cause most cancers, and they can’t be passed on to family members.)

 

What biomarker test results mean

You might get different types of results from biomarker testing. The results might show

 

• That your cancer has a certain biomarker that is targeted by a known treatment, so this might be an option to help treat your cancer. This may be available as an FDA-approved treatment, an off-label treatment, or by taking part in a clinical trial.
• That your cancer doesn’t have certain biomarkers, which means some treatments are unlikely to work. This could help spare you from getting treatments that won’t help.
• If you’re likely to benefit from treatment, without pointing to a specific treatment. For example, a test might show that your cancer is more likely to come back after the first treatment, so getting more treatment now could help lower this risk.
• Some changes in your cancer cells aren’t helpful in making treatment decisions, such as a gene change that is thought to be harmless (benign) or whose effects aren’t clear (known as a variant of unknown significance, or VUS). These results might still be on the lab test report, even though they aren’t used to make treatment decisions.

 

Some results might lead to genetic testing

Some biomarker tests might find gene changes that you may have been born with that increase your risk of cancer (or other diseases). These changes are often called inherited or germline mutations.

 

If such a change is found during biomarker testing, your health care team may recommend genetic counseling to help you decide if you should consider genetic testing for an inherited mutation. The results of genetic testing could affect both you and your family members, so your team will likely recommend that you speak with someone trained in genetic counseling and testing first. They can help you understand what the test results might mean for you and your family.

 

When biomarker testing is not helpful for cancer treatment

Biomarker tests might help you and your treatment team decide which treatment(s) might be best for you. But it’s important to know that these tests don’t help everyone. Here are some reasons why biomarker testing might not help you:

 

• You aren’t able to get a biopsy (or surgery) to collect tumor samples for biomarker testing for some reason.
• There isn’t enough tumor tissue in your biopsy sample for biomarker testing.
• Your insurance doesn’t cover the costs of testing for certain biomarkers.
• Testing is done, but it doesn’t find biomarkers in your cancer that match up with available treatments.
• Biomarker testing identifies a treatment that is being tested in a clinical trial, but you can’t enroll in the study for some reason.
• A liquid biopsy is the only way to test your cancer for biomarkers, but it might not show any markers (even if they’re on the cancer cells) because not every cancer sheds tumor cells into the blood.

 

Even if your test finds a biomarker that matches an available treatment, the treatment might not work for you. Targeted drugs and immunotherapy might be more likely to work in people with certain biomarkers than other treatments, but they still don’t work for everyone.

 

And, as with other types of cancer treatments, there is the chance that even if a treatment is helpful, it might become less effective over time, as the cancer cells could change and become resistant to some treatments.

 

Biomarker testing costs

The cost of biomarker testing can vary widely, depending on the type of test you get, the type of cancer you have, and if you have insurance, as well as what type of insurance you have.

 

For people with advanced cancer, some biomarker tests are covered by Medicare and Medicaid. Private insurance companies often cover the cost of a biomarker test if there is enough proof that the test is needed to guide treatment decisions. Tests without enough proof to support their value may be considered experimental, so they might not be covered by insurance. You can always appeal an insurance coverage decision.

 

Biomarker testing might be done as part of clinical trials of new cancer treatments. If you join one of these clinical trials, the cost of testing for any new biomarkers will likely be covered by the study. The study coordinator can give you more information about related costs.

 

Other uses of cancer biomarkers

While biomarkers are most often linked to cancer treatment, they can have other uses as well.

 

Showing if treatment has been effective

Biomarker testing can also be used during or after treatment for some cancers to see how well the treatment is working.

 

Looking for signs of cancer returning

Some biomarker tests can be used after treatment, to look for possible signs of the cancer coming back. This might allow treatment of the recurrence to start earlier.

 

How biomarker tests are used to select cancer treatment

Biomarker tests can help you and your doctor select a cancer treatment for you. Some cancer treatments, including targeted therapies and immunotherapies, may only work for people whose cancers have certain biomarkers.

 

For example, people with cancer that has certain genetic changes in the EGFR gene can get treatments that target those changes, called EGFR inhibitors. In this case, biomarker testing can find out whether someone’s cancer has an EGFR gene change that can be treated with an EGFR inhibitor.

 

Biomarker testing could also help you find a study of a new cancer treatment (a clinical trial) that you may be able to join. Some studies enroll people based on the biomarkers in their cancer, instead of where in the body the cancer started growing. These are sometimes called basket trials.

 

For some other clinical trials, biomarker testing is part of the study.  For example, studies like NCI-MATCH and NCI-COG Pediatric MATCH are using biomarker tests to match people to treatments based on the genetic changes in their cancers.

 

Find out if there are open trials for which you may be eligible.

 

Genetic Testing for People Who Have Never Been Diagnosed with Breast Cancer

Experts recommend that people with any of the following family history should speak to a genetics expert about genetic testing:

 

• A relative who has tested positive for an inherited mutation in a gene that increases cancer risk.

 

OR

One or more first- or second-degree relatives with breast cancer and any of the following:

 

• diagnosed at age 50 or younger
• triple-negative breast cancer
• two separate breast cancers, with the first diagnosis at age 50 or younger
• male breast cancer

 

OR

 

One or more first- or second-degree relatives with:

 

• colorectal cancer before age 50
• endometrial cancer before age 50
• ovarian, fallopian tube, primary peritoneal cancer
• rare or childhood cancers

 

OR

 

One or more first-degree relatives with:

 

• metastatic or high-grade prostate cancer
• pancreatic cancer

 

OR

 

Two or more relatives on the same side of the family diagnosed with any combination of the following at any age:

 

• breast cancer
• pancreatic cancer
• prostate cancer
• melanoma
• sarcoma
• adrenal cancer
• brain tumors
• leukemia
• endometrial cancer
• thyroid cancer
• kidney cancer
• diffuse gastric cancer
• colon cancer

 

OR

 

You are of Eastern European Jewish ancestry and have any relatives with breast, ovarian or pancreatic cancer at any age.

 

Other people who may benefit from genetic counseling and testing:

 

• People of Eastern European Jewish ancestry—even those without any family history of cancer—may wish to speak with a genetic counselor about testing.
• You may benefit from genetic counseling if you have had more than 10 colon polyps.
• You may also benefit from additional genetic counseling and expanded genetic testing if you had genetic testing in the past, you tested negative, and all of the following apply:
  • you have a family history of cancer that matches any of the situations listed above.
  • your genetic test only looked at one, or a few genes.
  • none of your relatives have tested positive for an inherited gene mutation.

 

This is not a complete list of hereditary cancers. A genetics expert can help you learn if the cancer in your family is hereditary. Also, see our section for PEOPLE WHO HAVE BEEN DIAGNOSED WITH BREAST CANCER.

 

Find Experts

Health care providers who are specially trained in genetics can help you more clearly understand your risk for hereditary cancer. The following resources can help you locate a genetics expert in your area.

 

The National Society of Genetic Counselors’ website offers a searchable directory for finding a genetic counselor by state and specialty. To find a genetic counselor who specializes in cancer genetics, choose “cancer” under the option “Area of Practice/Specialization.”

 

• InformedDNA is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference.
• JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available.
• Grey Genetics provides access to genetic counselors who offer tele- genetic counseling.
• The Genetic Support Foundation offers genetic counseling with board-certified genetic counselors.
• FORCE, a nonprofit organization has a toll-free helpline at: 866-288-RISK, ext. 704 will connect you with a volunteer board-certified genetic counselor who can answer general questions about genetic testing and cancer and help you find a genetics expert near you.
• FORCE Peer Navigator Program will match you with a volunteer who has undergone genetic counseling and can help you navigate resources to find a genetic counselor near you.
• Ask your doctor for a referral to a genetics expert.

 

Why Genetic Counseling Important

Consulting with an expert in cancer genetics is the best way to ensure receiving the most up-to-date and credible information. Genetic counseling consists of an appointment with a genetics expert in person, by telephone, or by video. Genetic counseling usually involves an in-depth discussion of the following:

 

• Your personal and family medical history
• The benefits and limitations of genetic testing
• Genetic privacy and discrimination laws

 

Once they evaluate your personal and family medical history, a genetic counselor will discuss other tools that may further clarify your risk for cancer, including genetic testing. A genetic counselor will not try to talk you into or out of testing but will discuss its benefits, risks, costs, and limitations.

 

Genetic counseling before genetic testing

If you decide to proceed with genetic testing, the counselor will:

 

• Fill out the paperwork and assure that the proper test is ordered.
• Work with your insurance and the testing facility to assure coverage for the test or help you find resources for low-cost testing if insurance won’t pay.
• Collect either blood or a cheek swab sample for the test and submit it to the appropriate laboratory.

 

Genetic counseling after genetic testing

Once your results have returned from the lab, the counselor will schedule a post-test disclosure appointment. This appointment is important; the genetic counselor will:

 

• Interpret and explain test results and what they mean for you and your relatives
• Provide you with your cancer risk estimates based on your test results
• Outline appropriate cancer risk management and treatment options
• Provide referrals to for follow-up screening and risk management, and suggest any relevant clinical trials

 

Genetic Testing for People Who Have Been Diagnosed with Breast Cancer

Up to 10% of people diagnosed with breast cancer have an inherited mutation that caused their cancer. There are national guidelines that outline who should consider genetic counseling and testing for an inherited mutation linked to cancer.

 

Experts recommend that people diagnosed with breast cancer who have any of the following should speak to an expert about genetic testing:

 

A person diagnosed with breast cancer, who has any of the following:

 

• triple-negative breast cancer.
• diagnosed with breast cancer more than once.
• breast cancer diagnosed at age 45 or younger.
• male breast cancer.
• advanced or metastatic breast cancer.
• early-stage breast cancer at high risk for recurrence to determine eligibility for maintenance therapy with the targeted therapy Lynparza.
• a close blood relative (first-, second-, or third-degree) who tested positive for an inherited mutation in a gene linked to cancer risk.
• a close blood relative diagnosed with male breast cancer.
• Ashkenazi Jewish ancestry.
• lobular carcinoma and a personal or family history of diffuse gastric cancer.

 

OR

 

A person diagnosed with breast cancer at age 46-50, who has any of the following:

 

• unknown or limited family medical history.
• two or more separate breast cancer diagnoses.
• one or more close relatives with breast, ovarian, pancreatic, or prostate cancer at any age.

 

OR

 

A person diagnosed with breast cancer at age 51 or older, who has any of the following:

 

• a close relative with breast cancer at age 50 or younger.
• a close relative with male breast, ovarian or pancreatic cancer.
• a close relative with prostate cancer that is metastatic or intraductal/cribriform type or intermediate/high-/very high-risk group.
• two or more close relatives with either breast or prostate cancer.

 

This is not a complete list of hereditary cancers. A genetics expert can help you learn if the cancer in your family is hereditary

 

Paying for Genetic Testing

The majority of public and private health insurance plans cover genetic counseling, and if appropriate, genetic counseling for people who have specific personal and/or family histories of cancer.

 

The cost of genetic counseling and testing varies based on several factors, including:

 

• Your gender
• Type of health insurance
• Which laboratory performs the test
• Whether a previously-identified mutation exists in the family
• Which gene mutations are included in the test

 

Under the Patient Protection and Affordable Care Act (ACA), genetic counseling and BRCA testing for women with specific personal and/or family cancer history should be covered with no co-payment. Coverage at 100% applies to in-network health care providers only. Services provided by out-of-network providers could result in out-of-pocket costs.

 

BRCA genetic testing for men—and women who are currently being treated for cancer—is not covered under the ACA preventive services, but most private health insurers will cover testing for those who meet specific personal and/or family cancer history criteria. Deductibles, coinsurance, and copays usually apply.

 

Genetic testing for mutations other than BRCA1 and BRCA2 not covered under the ACA. Some health insurers cover testing for other genetic mutations (i.e., ATM, CHEK2, PALB2, Lynch Syndrome, etc.) but deductibles, coinsurance, and copays will likely apply.

 

Medicare, Medicaid, self-funded, and short-term health plans are not required to abide by all of the ACA rules and may have different policies regarding coverage of genetic services.

 

Some health insurers require genetic counseling before you have genetic testing. If you are interested in genetic testing or if you think cancer runs in your family, it is important to speak with a qualified health care professional with training in genetics. Often, they can advise you on the right genetic test, and insurance coverage for the test, and provide guidance if an insurance appeal or financial assistance is needed.

 

If your insurance company denies coverage of recommended genetic testing, visit Health Insurance Appeals provided by the nonprofit organization FORCE (Facing Our Risks Empowered), for guidance and resources.

 

Patient Advocate Foundation provides case managers who help identify financial assistance programs and resources for those facing challenges.

 

Low-cost genetic testing is available:

• If you have a personal or family history of cancer and are denied coverage of genetic counseling or testing by your health plan, we encourage you to file an appeal.
• If out-of-pocket costs are an issue, a genetic counselor or nurse navigator can help you find financial assistance to cover or offset the cost of genetic testing. For more information on genetic counseling and how to find a qualified genetics expert, see our webpage on this topic.

 

Many reputable laboratories offer financial assistance programs. Low-cost, medical-grade genetic testing may be available for as little as $50. Labs have different criteria for assistance, so if you are not eligible for aid through one laboratory you should contact other labs to see if you qualify for a financial assistance program.

 

• JScreen is a national program based out of Emory University that provides low-cost at-home genetic counseling and testing with financial assistance available. Many laboratories offer low-cost genetic testing or financial assistance programs. Programs vary, so if you are not eligible for assistance through one lab, consider contacting other labs to see if you qualify.
• Ambry Billing and Insurance
• Color for All (Color’s Family Testing Program offers $50 testing for relatives of people with a known mutation)
• Invitae Patient Assistance Program
• Quest Financial Assistance Program
• Natera Compassionate Care Program
• Myriad Cares
• Sema4 Financial Assistance
• My Faulty Gene Financial Assistance application

 

Paying to Biomarker Testing

 

Patient Assistance Fund provides support for low-income patients This fund is intended to cover the cost of physician-prescribed Genetic and Genomic tests for cancer.

• Household Income Requirements
  • 400% or less of Federal Poverty Guideline (FPG) (adjusted for Cost of Living Index (COLI) and number in households)
• Insurance Requirements
  • All Insurance Types
• Must reside and receive treatment in the United States.

 

Sema4 is committed to helping every patient

 

access advanced genomic testing

 

Sema4 offers comprehensive patient support to break down barriers to testing. Our billing specialists can help with:

 

• Eligibility verification and pre-certification or pre-authorization needed for testing coverage
• Payment plans and self-pay pricing to accommodate certain financial circumstances
• Financial assistance options for patients with demonstrated financial need

 

Foundation Medicine is committed to helping patients access our testing services. Through our FoundationAccess™ support program, we complete a benefits investigation for each test ordered and reach out to any patients we expect may have out of pocket costs.

 

• The Foundation Medicine FoundationAccess™ program supports providers and their patients through the coverage and billing process. For each comprehensive genomic profiling test ordered, we complete a benefits investigation and reach out to patients whom we expect may have out of pocket costs.
• Additionally, we support providers and patients by helping obtain prior authorizations when required, billing the patient’s health plan for the test, and appealing denials with the patient’s consent.
• Appeals Support: We bill the patient’s health plan for the test and appeal denials as necessary

 

Tempus has a Financial Assistance Program to help provide access to our tests for all patients. Approval of the financial assistance application is based on your household income and takes into account all life circumstances.

 

• Once a financial assistance application is submitted either online or over the phone, you will receive a decision at the time of submission. If an application is submitted via fax or mail, you will receive a decision within 5 business days of receipt. Please note, we are unable to accept an incomplete application.
• Through our program, most applicants who qualify for financial assistance pay between $0-$100. In the event that you don’t qualify, please contact us at 800-739-4137 to discuss your options.

 

Caris Life Sciences® While Caris molecular testing is covered by most insurance plans, we have additional financial assistance programs that provide added financial flexibility for patients. Caris’ Compassionate Care Program assists uninsured patients who may not be able to afford out-of-pocket costs associated with our molecular profiling test.

 

Privacy and Your Test Results

 

Genetic Information Nondiscrimination Act (GINA) Discrimination

Many Americans wonder if participating in genetics research or undergoing genetic testing will lead to being discriminated against based on their genetics. These questions may be the basis for why or why not patients decide to take genetics-based clinical tests or volunteer to participate in the research needed for the development of new tests, therapies, and cures. This page provides an overview of the Genetic Information Nondiscrimination Act (GINA) and describes what protections GINA does and does not offer.

 

• https://www.genome.gov/about-genomics/policy-issues/Genetic-Discrimination#gina
• https://www.cancer.gov/about-cancer/treatment/types/biomarker-testing-cancer-treatment#:~:text=Biomarker%20testing%20is%20a%20way,how%20certain%20cancer%20treatments%20work.