(BPT) - When a woman receives a breast cancer diagnosis, the journey ahead can feel overwhelming. Breast cancer affects one in eight women in their lifetime, and while treatment options have advanced significantly in recent years, not all women have benefited equally. According to a 2024 report on health care, women of different racial and ethnic backgrounds may experience varying health outcomes based on their unique biology and individual circumstances. For breast cancer specifically, research shows different mortality rates across population groups, with some experiencing higher rates than others despite similar or lower rates of cancer incidence. These variations highlight why personalized approaches that recognize each woman's unique biology are so important in breast cancer care.
As personalized medicine continues to evolve, genomic testing and inclusive research are playing a key role in ensuring that all women receive care that reflects the unique biology of their cancer. By supporting more informed, individualized treatment decisions, these tools are helping close gaps in care and improve outcomes for patients of every background, toward a future where every woman receives the care that is most appropriate for her unique diagnosis.
While similar in name, genetic testing and genomic testing serve different but complementary purposes in breast cancer care. Genetic testing examines inherited genes, like BRCA1 and BRCA2, to identify mutations that may increase cancer risk for an individual and within families. Genomic testing, by contrast, analyzes gene activity within the tumor itself to understand its unique biology and behavior. This genomic information helps doctors and patients make more precise decisions about treatments like chemotherapy or extended hormone therapy based on the specific characteristics of each woman's cancer, rather than relying solely on traditional clinical factors.
Understanding tumor biology: The key to personalized care
Traditionally, physicians have relied on clinical factors like tumor size, patient age, and whether cancer has spread to nearby lymph nodes to guide breast cancer treatment decisions. But these factors alone cannot reveal what's happening at the molecular level inside each unique tumor.
"Every woman's breast cancer has its own unique biological profile that influences how the cancer might behave and respond to treatment," said Dr. Joyce O'Shaughnessy, national principal investigator of the FLEX Study and director of Breast Cancer Research at Baylor University Medical Center, Texas Oncology. "Through genomic testing, we can examine the activity of specific genes within a tumor that drive its behavior, helping personalize treatment plans and potentially improve outcomes for women of all backgrounds."
Genomic testing that works for everyone
A recent review has highlighted disparities in outcomes across different racial and ethnic groups and the need to expand research to bridge this gap.
MammaPrint®, a gene expression profiling test that analyzes 70 key genes associated with breast cancer recurrence, has demonstrated consistent reliability across diverse populations. It classifies tumors into four risk categories: UltraLow, Low, High 1, and High 2 - to help guide decisions about chemotherapy and endocrine therapy. BluePrint® examines 80 genes that define the tumor's molecular biology and what fundamentally drives cancer growth. Together, MammaPrint and BluePrint provide a comprehensive look into 150 genes that uniquely define a breast tumor. With results typically available in ten days or less, this 150-gene signature informs more personalized, data-driven treatment strategies by providing insight into how the cancer grows and its likely response to specific therapies.
Together, these tests offer a comprehensive genomic profile that supports more personalized, data-driven treatment decisions. They help patients avoid over- and under-treatment while offering insights that guide physicians throughout a patient's journey - from initial diagnosis through extended therapy planning.
"Having detailed information about the biology of a woman's cancer quickly helps pinpoint the most effective and timely treatment," said Dr. Regina Hampton, breast surgeon and chief of Breast Surgery at Doctors Community Medical Center, part of Luminis Health in Lanham, Maryland. "These tests provide some of the most specific information we can currently get to help women of all backgrounds receive the best possible health outcomes."
The FLEX Study: Building a more inclusive dataset
To further address the ethnic and racial differences in personalized care, Agendia launched the FLEX Study (NCT03053193), a real-world evidence initiative that has enrolled over 20,000 early-stage breast cancer patients to date. The study includes significant representation from Black, Latin American/Hispanic, and Asian American and Pacific Islander (AAPI) participants - making it the most diverse genomic study of its kind. This diversity ensures that genomic insights derived from the FLEX database can be confidently applied to women of all backgrounds, helping to close historical gaps in care.
The FLEX Study combines detailed genomic data from breast cancer tumors with real-world patient data, creating one of the most comprehensive breast cancer research databases of its kind. Current research, led by internationally renowned breast cancer investigators, is underway analyzing which genes are active in tumors from women of different racial and ethnic backgrounds, researchers can better understand how tumor biology varies between patients - and why outcomes sometimes differ. These insights, regularly published at academic conferences and peer reviewed journals, are helping uncover new ways to predict how a tumor will behave and which treatments may be more effective, with the goal of improving care for all women.
"Enrolling such a diverse patient population is an extraordinary accomplishment for the FLEX Study," O'Shaughnessy noted. "It underscores the critical progress being made in breast cancer research and the continued advancement of personalized treatment planning for patients across diverse, racial groups."
Why genomic testing matters for women's health
Access to the right genomic testing insights at the right time can have a significant impact:
- Preventing overtreatment: Nearly half of women who appeared to have high-risk tumors based on conventional clinical assessments were found by MammaPrint to be Low Risk, empowering these women and their care teams to choose the best therapy plan with the potential to safely avoid chemotherapy without compromising survival
- Uncovering hidden risks: BluePrint can identify tumors that behave more aggressively than they appear on standard pathology tests.1 This detection of hidden risks is especially important for Black women, who are disproportionately affected by more aggressive tumor types and could receive inadequate treatment without this deeper molecular analysis
- Supporting timely decisions: These genomic tests support informed decisions both before or after surgery - which can be especially important for women with more aggressive disease
- Guiding long-term therapy decisions: Recent clinical data shows that MammaPrint can help determine which patients will benefit from extended endocrine therapy years after their initial diagnosis, further extending its utility throughout the cancer care journey2
A path forward: Precision medicine for all
The ongoing FLEX Study aims to enroll 30,000 patients and follow them for more than 10 years to generate high-quality peer-reviewed research, advancing the scientific understanding of breast cancer biology that could help transform breast cancer care for generations to come.
"Through innovative genomic testing and inclusive research, we're working to ensure that every woman, regardless of her background, has access to the most accurate information about her unique cancer," O'Shaughnessy emphasized. "This knowledge empowers patients and their healthcare teams to make truly personalized treatment decisions that can improve outcomes while maintaining quality of life."
By combining innovative genomic technology with inclusive research practices, the healthcare community is making strides toward ensuring that precision medicine truly benefits all patients.
To learn more about genomic testing and its role in personalized early-stage breast cancer care, visit Agendia.com.
References:
- Lee PRE et. al., AACR 2018
- Rastogi P et. al., J Clin Oncol. 2024;00:1-9