Genomate AI applied to complex HER2 positive, ER/PR positive grade III invasive carcinoma

A 43-year-old female was diagnosed in July 2020 with localized grade III invasive carcinoma of the left breast.

A 43-year-old female was diagnosed in July 2020 with localized Human Epidermal Growth Factor Receptor 2 (HER2) positive, Estrogen Receptor/Progesterone Receptor (ER/PR) positive grade III invasive carcinoma of the left breast. She underwent standard of care Breast-Conserving Surgery (BCS) and Axillary Lymph Node Dissection (ALND), followed by adjuvant chemotherapy, radiation, and tamoxifen therapy.

In November 2021, the patient experienced a localized relapse in the left internal mammary node and was administered targeted radiation. Concurrently, she was tested for the Breast Cancer Susceptibility Gene (BRCA), which displayed a variant of uncertain significance. As a precautionary measure, she chose to undergo a Bilateral Salpingo-Oophorectomy, followed by Letrozole treatment. Regrettably, by late 2022, the patient developed metastatic disease and was treated with a HER2 inhibitor. Subsequent imaging produced mixed findings: while certain regions demonstrated a reduction in disease, others revealed progression. In light of these observations, a re-biopsy was performed and the patient underwent Next-Generation Sequencing (NGS) molecular profiling.

The NGS profiling revealed a very complex tumor that harbored 21 genetic alterations. Stunningly, seven alterations were associated with treatment options in clinical use at high level clinical evidence: PIK3CA, HER-2, ER, PRG, BRCA, ROS-1 and high PDL-1 expression.

Confronted with this level of complexity in the context of aggressive, therapy resistant metastatic disease, the oncologist turned to Genomate's advanced Artificial Intelligence (AI) predictive platform.

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Genomate’s impact

This case demonstrates the power of Genomate's clinical decision support system. Beyond merely cataloging genetic aberrations, Genomate's advanced computational framework deciders derives molecular intricacies specific to each patient. In the current example, 21 genetic alterations were identified, out of which 7 had matching clinical trials linked to a single specific alteration. Guided by the insights delineated by Genomate, the treating oncologist of this case was furnished with specific treatment recommendations based on Genomate’s comprehensive molecular analysis of the patient's neoplastic pathology. Informed by this analysis, a personalized targeted therapeutic regimen was initiated.

The treating oncologist commented on the utility of Genomate's platform, noting,

"Genomate provided a clear roadmap to navigate the complexity of the patient's cancer. It allowed us to understand the complexity behind the tumor to optimize her treatment, resulting in significant progress and renewed hope for a positive outcome."

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The Challenge of Early Detection

The merger of artificial intelligence (AI) and oncology represents a remarkable leap forward in our battle against cancer. Cancer, a complex and multifaceted disease, has long challenged the medical community. AI, with its ability to process vast datasets and identify intricate patterns, has emerged as a powerful ally. One of its most compelling applications is early detection. Through AI-powered imaging and genetic analysis, we can now detect cancers at their earliest stages when treatment options are most effective. This means improved survival rates and better quality of life for patients. Personalized treatment plans are another dimension where AI is revolutionizing oncology. No two cancer cases are identical, and AI-driven genomics allows us to tailor treatments to an individual's genetic makeup and the unique characteristics of their cancer. This approach minimizes side effects and maximizes the chances of successful treatment. Additionally, AI is accelerating drug discovery by predicting how different compounds interact with cancer cells. This leads to the development of targeted therapies that specifically attack cancerous cells while sparing healthy ones. These advancements are changing the landscape of cancer treatment, offering hope to patients and their families.

Personalized Treatment Plans: Tailoring Care with AI

Predictive analytics, powered by AI, is transforming our understanding of cancer trends and outcomes. By sifting through enormous datasets, AI can identify emerging patterns and risk factors. This not only aids in resource allocation but also enables early interventions and more effective public health strategies. Furthermore, AI can estimate patient survival rates by considering a myriad of factors, including genetics, treatment history, and lifestyle. This invaluable information empowers doctors to make informed decisions and helps patients gain a deeper understanding of their prognosis. AI is, in essence, a predictive compass guiding us through the complex terrain of cancer care. As we navigate this exciting frontier, it's essential to address ethical considerations. While AI promises tremendous benefits, it must be deployed with utmost care. Protecting patient data privacy is paramount. Transparency in AI decision-making is vital, ensuring that patients are well-informed about how AI is being used in their care. Moreover, AI should complement the human touch in healthcare, not replace it. The expertise and empathy of healthcare professionals remain irreplaceable. As we harness AI's potential to prevent, treat, and ultimately conquer cancer, we must maintain the delicate balance between technology and compassion, ensuring that the patient's well-being remains at the center of every innovation.

The Challenge of Early Detection

Personalized Treatment Plans: Tailoring Care with AI

Predictive Analytics: Forecasting Cancer Trends

The Challenge of Early Detection

Personalized Treatment Plans: Tailoring Care with AI

Predictive Analytics: Forecasting Cancer Trends

Ethical Considerations: The Human Touch in AI-Driven Oncology

Ms. Stupariu is a technology regulation expert, with 15 years of experience in project management and operations and academic background in international business law. She founded ReadyTech Consulting, a boutique consultancy focused on providing regulatory, legal & compliance support to SMEs and is now an advisor for multiple technology driven startups in the region. Her professional portfolio also includes being Country Data Protection Officer for a large automotive company (responsible for 8 legal entities and 19.000 employees) and assistant professor of EU and International Law for 400- law student cohorts. Her PhD research at Central European University, Columbia Law School and China University of Political Science and Law allowed her to study applied privacy and technology in depth. As a project and event manager, she has organized over 100 international events. She founded and coordinated an entrepreneurship social inclusion program for youth with thousands of beneficiaries (YouthBank Romania), and then an international academic network with members in 15 European countries and managed a team of 50 members (Lawyr.it).

Genomate AI was the first that demonstrated on clinical trial data that AI can improve personalized treatment decisions based on complex molecular cancer profiles.¹

Technology and methods

Ranking these targeted treatment options would require a randomized phase III study that compares these 7 therapies in patients who share the same 7 (or rather all the 21) genetic alterations. It is not feasible to perform such a study. In fact we would need 14,4 million years to compare all targeted treatment options in case of all potential combinations of driver genetic alterations. Genomate AI ranks targeted treatment options for each patient individually based on the whole molecular profile eliminating the need of randomized clinical trials for all genetic profiles. At Genomate, we want to dramatically accelerate precision oncology by reducing the 14,4 million years to 20 years we need to find the right targeted therapy for every cancer patient based on the individual molecular profile of their tumor. Genomate AI was the first that demonstrated on clinical trial data that AI can improve personalized treatment decisions based on complex molecular cancer profiles.¹ Genomate AI is the technology that has the potential to deliver the concept of precision oncology, the genomics-based, N-of-1 therapy of all cancer patients.

Conclusion

The patient's story illustrates the potential of AI in precision oncology, and Genomate's groundbreaking technology offers hope to countless patients facing complex cancers. With every step forward, we are witnessing a new era in cancer care, one where the complexity of each patient's cancer is met with tailored solutions that target the unique drivers of their disease.

A complex breast cancer case that persisted despite previous traditional treatments including surgery, radiation, and chemotherapy and despite the oncologist following treatment guidelines and ultimately ordering an NGS test from a leading lab and treating her with the recommendation, the cancer continued to progress. Genomate’s AI applied to the patient’s tumor genetic results was able to ultimately provide the oncologist a ranking of drugs on the totality of her tumor’s genetic makeup - maximizing the patient’s chances of being treated with the right drug.

¹Petak I et al.. A computational method for prioritizing targeted therapies in precision oncology: performance analysis in the SHIVA01 trial. NPJ Precis Oncol. 2021 Jun 23;5(1):59

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