The role of genomic testing

Unpacking a treasure chest of knowledge in Breast Cancer

The moment you hear “you have breast cancer,” your head is spinning with tons of questions. What does this mean for me? How will my treatment look? Understanding your cancer through genomic testing becomes a beacon of hope, illuminating the path to personalized treatment strategies.

my personal journey with genomic testing

Upon hearing “you have breast cancer,” I was overwhelmed with a storm of questions and concerns. The uncertainty was overwhelming, and the thirst for knowledge about my diagnosis became paramount. My discovery of genomic testing was a pivotal moment in my journey, offering a beacon of hope by revealing the unique nature of my tumor. This experience underscored the value of precise, personalized treatment plans, guiding my decision-making process with my healthcare team.

- Cynthia, Stage 2B, Founder of Learn Look Locate

Welcome to a Roadmap to understanding Genomic Testing for Breast Cancer

What is Genomic Testing?

Genomic testing represents a significant leap forward in understanding breast cancer. This innovative approach examines the gene expression inside the tumor. Gene expression helps us understand how cancer cells are growing and developing. Unlike genetic testing, which focuses on inherited traits, genomic testing delves into the cancer itself, uncovering the story written in the tumor’s gene activity, specifically how the cancer cells are growing and developing DNA. This narrative reveals how cancer grows, spreads, and, most importantly, guides which treatments might be most effective.

Why Genomic Testing is Done?

The primary goal of genomic testing is to understand the unique genetic profile of each tumor and use that information in addition to other examinations like physical examinations, imaging tests, and biopsies. More information allows for more personalized cancer treatment, moving beyond a one-size fits-all approach. Together helping to identify patients who will benefit most from certain treatments, such as chemotherapy, targeted therapy, or hormone therapy, and those who may avoid unnecessary treatments along with their associated side effects.

The Impact of Personalized Treatment Plans

By pinpointing the genetic alterations within a tumor, genomic testing enables doctors to select treatments that are most likely to be effective, sparing patients from the trial and error of standard treatment protocols. This not only has the potential to improve outcomes but also significantly impacts the quality of life during and after treatment.

Introducing Agendia

Page Sponsored by Agendia®.

Agendia, a leader in breast cancer genomics, offers two tests that can be used to help your provider personalize your care. When ordered together, MammaPrint®+Blueprint® offer invaluable insights into the nature of breast cancer, informing treatment decisions from diagnosis to survivorship.

What is my risk of recurrence?

MammaPrint

MammaPrint looks at the likelihood of your cancer coming back. Tumors are classified into 4 different categories: Low Risk groups (UltraLow and Low) indicate a low likelihood of your cancer returning and studies have shown no significant benefit to chemotherapy. The High Risk groups (High Risk 1 and High Risk 2) result indicates higher likelihood of your cancer returning and studies have shown they likely benefit from chemotherapy. In addition, there is clinical evidence associated with hormonal therapy choices.

The MammaPrint Index is divided into 4 different risk groups:

Based on studies that have been performed
  • UltraLow: Low benefit to chemotherapy. May safely discontinue endocrine (hormone) therapy before 5 years if experiencing intolerance.
  • Low: Low benefit to chemotherapy outweighs the risk and long-term side effects. May benefit from extending hormonal therapy beyond 5 years.
  • High1: Chemotherapy and hormonal therapy will help to reduce the risk of your cancer coming back.
  • High2: Chemotherapy before surgery and hormonal therapy will help to reduce the risk of your cancer coming back.

What is driving the growth of my tumor?

Blueprint

BluePrint identifies what is driving the tumor’s growth by classifying it into 3 different categories: These subtypes provide additional insight into the behavior of the tumor which will be useful for your care team to decide which treatments might be most effective.

BluePrint results in 3 different subtypes:

Based on studies that have been performed
  • Luminal Type:
    • A Type: Found if MammaPrint UltraLow/Low. These cancers tend to grow slowly, are not likely to recur. They are commonly treated with hormonal therapy since they are estrogen-receptor and/or progesterone-receptor positive.
    • B Type: Found if MammaPrint High 1/High 2. These cancers generally grow faster. They don’t respond as well to hormonal treatment as Luminal A cancers but often benefit from pre-surgery chemotherapy.
  • HER2 Type: These cancers tend to grow faster than luminal cancers and are more resistant to hormonal treatments but are often treated with targeted therapies aimed at the HER2 protein.
  • Basal Type: These cancers are the most aggressive of the four types. Most often associated with triple-negative cancers (but not always), they don’t respond well to hormonal therapies. These cancers would be candidates for more aggressive chemotherapy and other triple-negative type therapies.

    Important Note: Some Basal breast cancers can be Estrogen Receptor Positive (ER+) even though they are acting like triple negative cancer. This occurs twice as often in Black women.

Through genomic testing, we unlock a comprehensive understanding of breast cancer, enhancing traditional treatment approaches to embrace personalized care. Agendia’s MammaPrint and Blueprint tests exemplify the power of precision medicine, offering each patient additional information to enable a tailored treatment pathway that aligns with the intricate genetic makeup of their tumor. This journey through genomic testing is not just about combating cancer; it’s about navigating the path to recovery with confidence, armed with knowledge and a treatment plan as unique as you are.

Together MammaPrint+BluePrint provide information to help guide the following decisions:

  • Do I need chemotherapy and if so, before or after surgery?
  • Do I need specialized targeted therapy?
  • How long will I need to be on hormone therapy after treatment?

Frequently Asked Questions

1. How is genomic testing different from genetic testing?

Genomic testing examines genes within a tumor to understand how breast cancer cells are growing and developing. Genetic testing looks at the genes or DNA you were born with to understand hereditary risk most commonly looking at genes like BRCA which is linked to higher likelihood of breast cancer.

It helps tailor treatment to your individual tumor’s makeup. Understanding your tumors unique risk for recurrence and molecular subtype is key to understanding if your cancer will react to different types of treatment like chemotherapy and hormonal therapy.

Not all breast cancer patients are recommended for genomic testing . Generally, the genomic tests currently available are for early-stage breast cancer patients (stages 1-3). Beyond these general guidelines, each test has its own set of eligibility criteria, see below for further details.

  • Breast Cancer Index: The Breast Cancer Index test analyzes 11 genes to help predict the risk of early-stage, hormone receptor-positive breast cancer coming back five to 10 years after diagnosis. After five years of hormonal therapy, the test helps people, and their doctors decide if five more years of hormonal therapy (for a total of 10 years of hormonal therapy) would offer benefits.

  • EndoPredict: The EndoPredict test analyzes 12 genes in early-stage, Hormone Receptor Positive, HER2 Negative breast cancer that is either node-negative (cancer hasn’t spread to the lymph nodes) or has spread to no more than three lymph nodes to create what’s called a molecular score. The molecular score is combined with some of the cancer’s other features – the size of the tumor and whether the cancer is node-negative or node-positive. The score helps predict the risk of the cancer coming back (recurring) in a part of the body away from the breast (called distant metastasis or distant recurrence) within 10 years of diagnosis. Knowing the risk of distant metastasis helps people and their doctors decide if chemotherapy or other treatments after surgery would be beneficial.

  • MammaPrint: The MammaPrint test analyzes 70 genes in early-stage breast cancer that is Hormone Receptor Positive and HER2 Negative with either node-negative or node-positive (spread to no more than three lymph nodes) and is 5 centimeters or smaller in size. The results say whether breast cancer has a high risk or low risk of recurring within 10 years of diagnosis. Knowing the level of risk helps decide if chemotherapy or other treatments like hormonal therapy and targeted therapy would be beneficial.
    • BluePrint: The BluePrint test is a complementary test to the MammaPrint test that analyzes an additional 80 genes to understand the molecular subtype of the tumor (Luminal A, Luminal B, HER2, Basal). Knowing the subtype helps your care team understand how the tumor will behave and inform their treatment recommendations.

  • Oncotype DX Breast Recurrence Score: The Oncotype DX Breast Recurrence Score test analyzes 21 genes in early-stage, Hormone Receptor Positive, HER2 Negative breast cancer that is either node-negative or has spread to no more than three lymph nodes. The Recurrence Score helps predict the risk of recurrence, as well as how likely a person is to benefit from chemotherapy. People and their doctors use the results to decide if adding chemotherapy to hormonal therapy after surgery would be beneficial.

  • Oncotype DX Breast DCIS Score: The Oncotype DX Breast DCIS Score test analyzes 12 genes in DCIS to help predict the risk of DCIS recurrence or invasive breast cancer recurrence within 10 years of DCIS diagnosis. Knowing this risk helps people and their doctors decide if radiation therapy after DCIS surgery would be beneficial.

  • Prosigna Breast Cancer Prognostic Gene Signature Assay: The Prosigna Breast Cancer Prognostic Gene Signature Assay analyzes 50 genes in early-stage, hormone receptor-positive breast cancer in post-menopausal women who have had surgery to remove the cancer. The test estimates the risk of distant metastasis within 10 years of diagnosis: This is known as the Risk of Recurrence score. In addition to the genetic analysis, the Risk of Recurrence score is based on several characteristics of the cancer, including size, subtype, and node status. The Risk of Recurrence score helps post-menopausal women, and their doctors decide on the best treatments after surgery.

Genomic testing examines gene expression within the tumor to understand the growth and development, and ultimately the likelihood of recurrence, of your specific breast cancer. This allows for a more precise, targeted treatment plan, which can in turn improve prognosis.

Results vary depending on the specific test and laboratory and could be received within 1-3 weeks. Speak with your care team to understand the nuances between tests. MammaPrint and BluePrint results typically take 4-7 days.

There are no side effects or risks associated with genomic testing as it is an additional data point that is considered when making your treatment choices.

Insurance coverage for genomic testing varies, but many plans cover it, especially when medically necessary as part of your breast cancer treatment planning. Speak with your care team to understand the nuances between tests. 85% of all patients have $0 financial responsibility for Agendia’s tests.

Yes, genomic testing can inform decisions about additional treatments like chemotherapy or targeted therapies, ensuring personalized care.

Genomic testing may influence surgical decisions by providing information on tumor aggressiveness and recurrence risk.

No, genomic testing is different than genetic testing, which assesses the risk of an inherited (hereditary) cancer predisposition. Genetic testing looks for changes in specific genes to see if a person has inherited a change from a parent that affects their risk of developing a certain type of cancer. This testing is done on a blood or saliva sample and tests the genes that a person is born with. Genomic testing looks at the gene expression of a specific tumor sample to understand how these cancer cells are acting differently from normal cells in the body. The results of this test are unique to the specific tumor and do not provide any information about hereditary cancer risk for either the patient or their family members.

Genomic test results should always be explained and interpreted by your healthcare provider. The two of you can then use these results to make a personalized care plan.

Genomic test results should always be explained and interpreted by your healthcare provider. The two of you can then use these results to make a personalized care plan.

There are ongoing research studies and clinical trials utilizing breast cancer genomic testing. Your care team should be able to guide you toward clinical trials that you qualify for based on your specific genomic test results and other clinical factors. You can also find information about ongoing trials at clinicaltrials.gov

Genomic testing does not require any updates after the initial test unless an additional cancer is found.

Yes, genomic testing can be used for monitoring, aiding in early detection of recurrence, risk of distant metastasis or new cancer developments.

There are various resources, including your medical care team, patient resource sites like Learn Look Locate and the websites of companies offering genomic testing. These resources can help you understand the implications of this testing and the course of your treatment journey.

No, support groups and counseling services are not specified currently for genomic testing.

Insights from our medical advisor

“Every cancer has its own unique fingerprint which is determined by the presence or absence of certain genes in the cancer cell. This information often guides what type of systemic treatment a breast cancer patient can benefit from. There are a number of different genomic tests available. If you have early-stage breast cancer, ask your doctor for a copy of this report and read it front to back.”

Barry Rosen, MD, Senior Medical Advisor for Learn Look Locate

Glossary of Terms:

  • Chemotherapy: Treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. Chemotherapy may be given by mouth, injection, or infusion, or on the skin, depending on the type and stage of the cancer being treated.

  • Neoadjuvant Therapy: Treatment given as a first step to shrink a tumor before the main treatment, which is usually surgery.

  • Adjuvant Therapy: Additional cancer treatment given after the primary treatment (after surgery) to lower the risk that the cancer will come back. Adjuvant therapy may include chemotherapy, radiation therapy, hormone therapy, targeted therapy, or biological therapy.

  • Endocrine/Hormone Therapy: Slows or stops the growth of hormone-sensitive tumors by blocking the body’s ability to produce hormones or by interfering with the effects of hormones on breast cancer cells. This usually comes in the form of a pill.

  • Specialized Therapy: a specified regimen doctors follow in specific sub-types of breast cancers like HER2 type and Basal Type.

Disclaimer:
This content simplifies complex medical concepts to enhance understanding. Detailed discussions with your healthcare team are crucial to apply this knowledge to your specific situation, ensuring a treatment plan that best suits your unique cancer profile.