Navigating Breast Cancer: Genomics, Testing, and Patient Advocacy

•Complexity of the disease: Breast cancer isn’t one disease — it includes various subtypes (like HER2-positive, triple-negative, hormone receptor-positive) with different prognoses and treatment options. Each subtype may require different tests, treatments, and specialists.

•Overwhelming information: You are often given a flood of medical and scientific information, test results, and treatment choices in a short time. Medical jargon can be difficult to understand without guidance, making informed decision-making challenging.

•Multiple treatment modalities: Treatment plans can involve surgery, chemotherapy, radiation, hormone therapy, targeted therapy, or immunotherapy — sometimes in combinations or sequences. Deciding between options (like lumpectomy vs mastectomy, or clinical trials vs standard care) adds pressure.

•Coordination among providers: Care often involves a multidisciplinary team: oncologists, radiologists, surgeons, genetic counselors, and more. Communication between providers isn’t always seamless, leaving patients to bridge gaps in their own care.

•Emotional and psychological stress: The emotional toll of a cancer diagnosis can cloud judgment, memory, and decision-making. Patients and care givers may not retain or fully process information given during appointments.

•Insurance and financial barriers: Coverage for tests, treatments, or second opinions can vary. Out-of-pocket costs, even with insurance, are often high and unpredictable. Navigating approvals, referrals, and claims can be time-consuming and stressful.

•Access to personalized options: Access to second opinions, genetic testing, tumor sequencing, hereditary cancer testing or clinical trials can be limited by geography, cost, or lack of awareness. Not all providers present or explain emerging options beyond the standard of care.

•Cultural, language, and socioeconomic factors: Language barriers, cultural beliefs and differences, or lack of advocacy can impede understanding or trust in care recommendations. Patients with lower health literacy are particularly vulnerable to misinformation or under-informed decisions.

•Lack of navigation support: Many patients don’t have access to dedicated nurse navigators or patient advocates. Without someone to coordinate care, explain steps, and offer emotional support, patients are left to piece together the puzzle themselves. Dr. Catalina Lopez-Correa, MD, PhD, Chief Global Strategy Officer at Genome Canada, is uniquely qualified to discuss a breast cancer journey. She is in charge of advancing the use and applications of genomics in different sectors that are key for the economy of Canada, setting up strategic collaborations with the private sector and government as well as academics leaders at a national and international level. Dr. Lopez-Correa holds a Medical degree from the UPB in Colombia, a Master’s degree in Human Genetics from Paris V University in France, a PhD in Medical Biosciences from the KULeuven in Belgium, a mini MBA from McGill University in Canada, and has trained in innovation leadership at Singularity University. She was diagnosed with breast cancer in 2023. How does cancer change your identity? For Dr. Lopez-Correa, her cancer journey changed her professional perspective and personal mission. She became more vocal about patient advocacy, started documenting her experience publicly, and shifted her scientific leadership to focus more on patient-centered genomic research. Her cancer experience made her more empathetic, strategic about healthcare access, and committed to helping other patients navigate complex medical systems. She's even writing a book about her journey to share insights about how genomics can inform cancer care. The experience moved her from being a scientific leader to also becoming a patient advocate, fundamentally expanding her identity beyond her professional role. What should you know early in your cancer journey, especially about advocating for yourself?

•Ask questions about genomic testing and precision medicine options

•Seek comprehensive genomic analysis of your tumor to inform treatment decisions

•Be prepared to navigate a complex healthcare system

•Know that not all tests are standard of care, so you may need to challenge healthcare providers and push for additional testing

•Seek genetic counseling to help interpret test results and understand their implications

•Recognize that early detection and prevention are crucial, so be proactive about screenings and testing

•Understand that your cancer journey is unique, and personalized genomic information can help tailor your treatment

•Stay informed about the latest research and treatment technologies; be aware of potential clinical trials or emerging treatments that might be suitable for your specific cancer profile

•Connect with patient advocacy groups for support, information, and resources

•Learn about genomics and available tests specific to your cancer type

•Request comprehensive genomic analysis and detailed reports

•Don't be afraid to pay out-of-pocket for critical tests if necessary

•Understand your specific cancer's molecular profile

•Request time to discuss test results thoroughly with healthcare providers What diagnostic tests should you get for breast cancer? The specific tests recommended depend on your individual factors like age, cancer stage, family history, and molecular characteristics of the tumor. Consulting with an oncologist to determine the most appropriate testing strategy is crucial. Here are tests to consider:

•Oncotype DX test - analyzes tumor tissue to help determine your need for chemotherapy

•Germline genetic testing (BRCA1/BRCA2) - Identifies potential genetic mutations that may impact cancer risk and treatment - especially recommended for: - Patients diagnosed before age 50 - Triple negative patients under 60 - Those with family history of breast/ovarian/pancreatic/prostate cancer - Ashkenazi Jewish patients - Male breast cancer patients - Metastatic breast cancer patients

•Whole genome sequencing of tumor tissue - provides comprehensive analysis of tumor and constitutional genome

•Ki-67 test to assess tumor proliferation rate

•Hormone receptor status (ER/PR) and HER2 testing

•Circulating tumor DNA (liquid biopsy) tests like Signatera for monitoring minimal residual disease How can you access testing to help refine your diagnosis and guide your treatment? Key challenges include:

•Cost of testing

•Limited insurance coverage

•Lack of awareness among healthcare providers

•Unequal access across different regions and populations You should:

•Be an active advocate for yourself

•Ask questions about available tests

•Seek genetic counseling

•Push for comprehensive genomic analysis How can you monitor your disease progression? Liquid biopsy tests have advantages in monitoring your disease:

•Semi-quantitative measure of tumor burden

•Increased vigilance for potential cancer recurrence

•Ability to monitor tumor progression through doubling time

•Potential to inform imaging frequency and follow-up care However, there are also limitations:

•Tests may not always lead to immediate treatment changes

•Not all oncologists see actionable value in the results

•Potential for patient anxiety from test results

•Limited evidence of overall survival advantage How can you learn more about navigating your cancer journey, especially for breast cancer?

•Join the breast cancer community (and other communities) on the Cancer Patient Lab discussion hub.

•See other stories of engaged patients and how they advocated for themselves:

•“Navigating Cancer Survivorship" (Caroline Knudsen and Chasse Bailey-Dorton, MD)

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•The information and opinions expressed on this website or platform, or during discussions and presentations (both verbal and written) are not intended as health care recommendations or medical advice by Cancer Patient Lab, its principals, presenters, participants, or representatives for any medical treatment, product, or course of action. You should always consult a doctor about your specific situation before pursuing any health care program, treatment, product or other course of action that might affect your health. Meeting Notes KEYWORDS breast cancer, genomic testing, precision oncology, genomics integration, patient advocacy, liquid biopsy, circulating tumor DNA, AI in cancer detection, healthcare equity, genetic counseling, oncotype DX, CDK4/6 inhibitors, patient journey, cancer patient lab, Marathon of Hope. SPEAKERS Catalina Lopez-Correa (61%), Allen Morris (23%), Sandra Balladares (8%), Brad Power (4%), Chris Apfel (4%) CHAT CONTRIBUTORS Brad Power, Roger Royse, Egle Bubelis, Chris Apfel SUMMARY Catalina Lopez-Correa, Chief Scientific Officer at Genome Canada, shared her journey with breast cancer, emphasizing the importance of genomics in cancer care. Diagnosed in April 2023, she underwent chemotherapy and advocated for additional tests like Oncotype DX and germline testing. Her tumor's AKT1 mutation and ERBB2 amplification guided her treatment. She highlighted barriers in genomics, including cost and equity, and advocated for more inclusive patient involvement. She also discussed the potential of AI in early detection and the need for better representation of diverse genomes in databases. She stressed the importance of patient advocacy and education in shaping genomic policies. OUTLINE Dr. Lopez-Correa's Career and Personal Journey

•Sandra Balladares introduced Dr. Catalina Lopez-Correa, highlighting her extensive experience in genomics and her role as Chief Scientific Officer at Genome Canada.

•Dr. Lopez-Correa has done advocacy work for precision oncology and genomic testing, with an added dimension after her breast cancer diagnosis.

•She has had a 25-year career in genomics.

•She moved to Canada in 2008.

•She has led various genomic initiatives.

•She was diagnosed with breast cancer in April 2023, six months after speaking at a major genomics meeting in San Diego.

•Her father was diagnosed with glioblastoma in 2016. There was a lack of genetic testing and clinical trial options available at the time.

•She described her own breast cancer journey, including her initial Oncotype DX test results indicating a need for chemotherapy and her subsequent treatment. Challenges and Advocacy in Cancer Care

•Dr. Lopez-Correa discussed the challenges she faced in advocating for herself in the Canadian healthcare system, including the need for additional tests and the lack of representation of Latino genomes in international databases.

•Comprehensive genomic analysis is important.

•Genetic counselors have an important role in interpreting test results.

•There is a need for more diverse representation in genomic data sets.

•There is an ongoing battle to access certain tests, such as circulating tumor DNA testing.

•Being part of the personalized oncogenomics program in Vancouver has informed her treatment and provided new treatment options. Barriers and Opportunities in Genomics

•Sandra Balladares asked Dr. Lopez-Correa about the barriers to implementing genomics at scale in clinical settings and how they can be overcome.

•Dr. Lopez-Correa identified education of healthcare providers and the high cost of genomics tests as significant barriers.

•There is an equity challenge in accessing genomics, particularly for patients in rural and underserved areas. It is important to empower patients to advocate for themselves.

•AI has a role in early detection and potential to improve cancer care and reduce costs. Discussion on Genomic Testing and Treatment

•Allen Morris discussed the importance of germline testing for breast cancer patients and the potential yield of pathogenic mutations.

•He questioned the cost-effectiveness of widespread germline testing and the potential for shotgun testing to lead to unnecessary expenses.

•Dr. Lopez-Correa agrees that widespread testing is not currently feasible but advocates for high-risk groups to have access to germline testing.

•She discussed the potential for future advancements in genomics, including whole genome sequencing at birth, and the importance of prevention and early detection. Patient Advocacy and Inclusivity

•Sandra Balladares asked about the role of patient advocacy in shaping inclusive genomic policies.

•Dr. Lopez-Correa emphasized the need for meaningful patient involvement in research and the challenges of including patient voices in the scientific community.

•Education and awareness in overcoming barriers to genomics are important. Patient advocacy groups can help in promoting equitable access to new technologies.

•Dr. Lopez-Correa shared her personal experience of being open about her cancer journey and the impact it has had on her leadership and advocacy efforts. Future of Liquid Biopsies and Patient Decision-Making

•Allen Morris and Chris Apfel discussed the potential and limitations of liquid biopsies, such as Natera's Signatera test, for monitoring minimal residual disease.

•Dr. Lopez-Correa expressed her excitement about the test but also her concerns about the potential emotional and physical toll of a positive result.

•Chris Apfel highlighted the importance of understanding tumor burden and the potential for liquid biopsies to inform treatment decisions and monitoring strategies.

•The discussion touched on the balance between the clinical utility of tests and the patient's need for peace of mind and informed decision-making. Closing Remarks and Future Directions

•Dr. Lopez-Correa reiterates her commitment to advocating for cancer patients and working towards more equitable access to genomics and new technologies.

•The meeting concluded with a focus on continued collaboration and efforts to improve cancer care through genomics and patient advocacy. [This transcript has been edited for clarity and flow. Repetitions and filler words have been