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Research Becomes Personal for Local Doctor

Genomics is Making Precision Medicine a Reality for

Breast Cancer Patients

by guest writer Dr. Catalina Lopez-Correa, MD, PhD

Trained as a medical doctor and genomics scientist, with 20 years of experience working in research and innovation around the globe, I was not ready to face a moment where I became the topic of research. The transition from being a clinician, a researcher, and a research funder to being a patient has been one of the most difficult shifts in my life. 

I was diagnosed with breast cancer in April 2023. This was not part of my life plan. I have talked for many years at national and international conferences about genomics, precision medicine and oncology, but I was not at all ready to become an oncology patient myself. Starting the cancer journey was frightening and challenging.

Upon receiving my diagnosis, I immediately immersed myself in scientific literature, reports, and online forums to update my knowledge and gain a comprehensive understanding of breast cancer. Such is the nature of scientists; we are curious, we read, we learn, we probe. Simultaneously, I sought to control every aspect of my medical journey, from diagnosis to surgery, chemotherapy, and radiotherapy, aligning with the instincts of a clinician. The most profound challenge lay in balancing these multiple roles: scientist, medical doctor, and now, the more complex role of being a patient.

My training in the world of genomics continued in Belgium with a PhD on Neurofibromatosis type 1, mapping the size and structure of large DNA deletions in patients with severe phenotypes.  One of the mapping techniques we used was FISH (Fluorescence in situ hybridisation) which allowed us to precisely delineate deletion boundaries and identify duplicated genes within the region. Coincidentally, FISH was the first test my doctor asked for to define my tumor’s HER2 status. This was my first patient experience with precision medicine.

After receiving my HER2 FISH results and the other two biomarkers (ER+ and PR+), I inquired with my surgeon about obtaining additional genomic tests for my tumor. I knew these three biomarkers guided treatment decisions, but my hope was to get my tumour fully sequenced and compared to my constitutional DNA in order to uncover all mutations and genomic variations.  However, it proved more complex; provincial policies in British Columbia restrict tumor sequencing to patients with advanced or metastatic breast cancer due to the high cost of Whole Genome Sequencing (WGS). Instead, I was offered the option to participate in a clinical trial that would provide a genomic analysis of 21 key genes.

Although not WGS, I eagerly embraced the opportunity for this partial genomic analysis. When the results arrived, my oncologist recommended chemotherapy based on the profile of these 21 genes and the associated resulting "score." I was torn, part of me was frustrated thinking that I had to do chemotherapy, but part of me was excited to see that genomics was truly guiding my oncologist to make critical decisions about my treatment. This objective genomic analysis underscored the need for chemotherapy. It was yet another illustration of genomics driving precision medicine in oncology.

However, thinking about the high cost of tumor sequencing and sequencing companies like MGI that are talking about WGS for less than $100, I could envision that instead of a 21-gene panel for therapeutic guidance, all breast cancer patients could benefit from the transformative power of genomics. This advance could catalyze a widespread integration of genomics within the clinical setting, enabling a more comprehensive patient-specific tumor characterization leading to a refined and precise diagnostic for every patient. WGS could extend its utility beyond chemotherapy considerations, guiding other treatment decisions, selecting patients who will benefit from new or upcoming targeted therapies, defining risk of cancer recurrence and overall outcomes and prognosis for every patient.

Throughout my career as a scientist, I often referred to Angelina Jolie's story to emphasize the importance of not only analyzing the tumor’s genome but also studying constitutional genes that indicate predisposition to breast cancer. Her mother died of breast cancer and through genetic testing Angelina discovered that she has a BRCA1 gene mutation that significantly increases her risk of developing breast and ovarian cancer which prompted her to opt for a preventive double mastectomy. As a scientist, and now a patient, I wanted to explore potential mutations in hereditary cancer genes. Regrettably, in my case, this test is not covered by the Canadian healthcare system. Nonetheless, I personally covered the cost of the test, which confirmed the absence of mutations in BRCA1, BRCA2, and other hereditary cancer genes. In this case, the high cost of the test, and the coverage of only a small number of genes is a clear limiting factor for the widespread implementation of genomics and precision medicine in oncology.

This journey as clinician, scientist and breast cancer patient has brought forth several key insights about genomics and precision medicine:

Genomics has revolutionized clinical practice, making precision medicine a reality. Breast cancer is not a singular diagnosis; it comprises numerous distinct types, with differential diagnosis and treatment decisions based on the tumor's biomarkers and genomic profile. Genomics is guiding a much more refined and precise diagnostic of breast cancer and is making treatments more targeted and personalized.

This year marks the 20th anniversary of the completion of the first working draft of the human genome. Scientists from six countries spent thirteen years sequencing the first human genome at a cost of nearly $3 billion. Yet, the cost of genomic analysis, especially Whole Genome Sequencing, remains high. So, it is important that companies like MGI bring the cost below $100 per genome, a milestone that could significantly accelerate the clinical implementation and widespread use of genomics in oncology and in all medical fields.

Education about genomics is a clear need. For clinicians, to ensure that they know when to prescribe genomic testing and how to act according to the results, and for patients, to ensure that they are empowered and understand the critical role genomics plays in the diagnosis and treatment of breast cancer. I encourage every woman diagnosed with breast cancer to ask for the genomic test of their tumor and also for genomic analysis of hereditary breast cancer genes.

Achieving equity and access to genomic technologies remains a challenge. I was fortunate to access genomic testing through Canada's healthcare system and had the financial means for an additional hereditary breast cancer test. However, many patients globally, particularly in resource-limited or emerging economies, lack access to these tests at their current price point. This underscores the urgency of reducing WGS costs below $100 and to reduce the cost of panels (including analysis and reporting) to less than $50. These cost reductions, together with education programs to increase awareness about the critical role genomics plays in the diagnosis and treatment of breast cancer, are crucial to ensure all breast cancer patients around the world benefit from the genomics revolution.

Dr. Catalina 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. Since 2021, she has lived in Lions Bay with her partner Maria Escobar Trujillo and their dog Luna. This article first appeared HERE as a part of Catalina's efforts to document her journey with breast cancer. You can watch Catalina's Ted-X Talk on the Genomics Revolution HERE.

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Thank you so very much Catalina for sharing your personal story of your diagnosis and how your journey has been progressing. Your strong medical training background has been so very valuable as you faced the various mapping techniques and then found the Whole Genome Sequencing (WGS) testing was not available for you. To know provincial policies restrict WGS tumor sequencing to patients with advanced or metastatic breast cancer is very sad to hear. Though you paid for the WGS test yourself, it confirmed you had no hereditary cancer genes or other mutations. Your thoughts regarding the future possibilities if reduced costs of the WGS test could be brought about is very inspiring. We look forward to seeing you, Mari…


Ekkehard Goetting
Ekkehard Goetting

Commendable to share knowledge and insights from a very “involved “ scientific and personal perspective!

Breast cancer for women and prostate cancer for men being the highest volume of cancer in BC, more of this kind of sharing personal

and scientific knowledge would be more than invaluable to many, including Lions Bay residents.

With the aforementioned, large volume cancer victims being shipped to Bellingha, a very down to earth discussion of the defective healthcare system in BC may be of relevance and interest.

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