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Lunedì 14 dicembre 2026 I 15:00 – 16:30 (CET)
Il testing molecolare è un passaggio cruciale nella gestione clinica del paziente con tumore genito-urinario. Informazioni molecolari accurate, affidabili e tempestive orientano le decisioni multidisciplinari e favoriscono un accesso più appropriato alla medicina di precisione.
In 90 minuti, prospettiva clinica e diagnostica a confronto per diffondere best practice replicabili sul territorio e migliorare la qualità dei percorsi di profilazione.
AGENDA - PROGRAMMA SCIENTIFICO
| Orario | Sessione | Relatore/i |
|---|---|---|
| 15:00 – 15:05 | Introduzione | Caterina Chiappetta e Michela Roberto |
| 15:05 – 15:35 | Rilevanza clinica della profilazione molecolare nei tumori genito-urinari | Caterina Chiappetta |
| 15:35 – 16:05 | Dal campione al referto: elementi chiave per garantire un percorso diagnostico di qualità | Michela Roberto |
| 16:05 – 16:25 | Discussione interattiva: come favorire percorsi di testing di qualità sul territorio | Caterina Chiappetta e Michela Roberto |
| 16:25 – 16:30 | Take-home messages e conclusioni | Caterina Chiappetta e Michela Roberto |
Con il contributo non condizionante di J&J.
Martedì 1 dicembre 2026 I 15:00 – 16:30 (CET)
Il testing molecolare è un passaggio cruciale nella gestione clinica del paziente con tumore genito-urinario. Informazioni molecolari accurate, affidabili e tempestive orientano le decisioni multidisciplinari e favoriscono un accesso più appropriato alla medicina di precisione.
In 90 minuti, prospettiva clinica e diagnostica a confronto per diffondere best practice replicabili sul territorio e migliorare la qualità dei percorsi di profilazione.
AGENDA - PROGRAMMA SCIENTIFICO
| Orario | Sessione | Relatore/i |
|---|---|---|
| 15:00 – 15:05 | Introduzione | Iole Natalicchio e Vincenza Conteduca |
| 15:05 – 15:35 | Rilevanza clinica della profilazione molecolare nei tumori genito-urinari | Vincenza Conteduca |
| 15:35 – 16:05 | Dal campione al referto: elementi chiave per garantire un percorso diagnostico di qualità | Iole Natalicchio |
| 16:05 – 16:25 | Discussione interattiva: come favorire percorsi di testing di qualità sul territorio | Iole Natalicchio e Vincenza Conteduca |
| 16:25 – 16:30 | Take-home messages e conclusioni | Iole Natalicchio e Vincenza Conteduca |
Con il contributo non condizionante di J&J.
En este webinar presentamos SOPHiA DDM™ para Farmacogenómica, una serie de soluciones diseñadas para que los laboratorios clínicos identifiquen variantes genéticas que impactan la respuesta a medicamentos con una precisión sin precedentes. A lo largo de una hora, abordaremos la arquitectura y diferencias entre los tres abordajes disponibles, sus métricas de rendimiento analítico, y el funcionamiento del algoritmo para star allele calling, comparado frente a los métodos de referencia del estado del arte.
Además, exploraremos la capacidad de la plataforma para detectar variantes conocidas y nuevas, incluyendo CNVs clínicamente relevantes, ilustrada con un caso clínico real de impacto directo. Finalmente, revisaremos el flujo de trabajo completo, desde la muestra hasta el reporte clínico, y su compatibilidad con sistemas de interpretación de terceros.
Este webinar está dirigido a laboratoristas, bioinformáticos, genetistas clínicos y profesionales de la salud interesados en implementar o profundizar en soluciones de farmacogenómica de precisión a través de secuenciación de próxima generación.
This webinar is presented in Spanish.
En esta presentación compartiremos la experiencia del Laboratorio de Biología Molecular del Sanatorio Americano en la implementación del Exoma Clínico como herramienta diagnóstica para pacientes con enfermedades complejas y de difícil resolución. A través de casos clínicos reales, mostraremos cómo la genómica puede integrarse a la práctica asistencial para aportar respuestas diagnósticas de alto impacto clínico.
La presentación estará centrada en casos provenientes de distintas especialidades médicas, haciendo foco en las ventajas del uso del Exoma clínico frente a los paneles dirigidos.
Discutiremos las ventajas de adoptar una estrategia diagnóstica más amplia desde el inicio del estudio, especialmente en pacientes con fenotipos complejos, manifestaciones atípicas o cuadros clínicos que involucran múltiples sistemas.
Finalmente, presentaremos la experiencia de implementación de esta tecnología de SOPHiA GENETICS para el análisis e interpretación de variantes, en una institución médica de alta especialización desde una perspectiva de optimización de recursos.
El objetivo es mostrar cómo el Exoma Clínico puede mejorar el rendimiento diagnóstico, optimizar la toma de decisiones médicas y acercar la medicina de precisión a la práctica clínica cotidiana, en la región.
The second webinar in the Precision Oncology Showcase series, sponsored by SOPHiA GENETICS, will highlight the successful decentralization of MSK-ACCESS® on the SOPHiA DDM™ Platform. We will explore findings from our internal verification study, insights from early adopter sites, and real-world data that demonstrate how our collaboration with Memorial Sloan Kettering Cancer Center (MSK) has overcome decentralization challenges—delivering high analytical concordance with single-site testing.
We are also excited to welcome Leah Thompson, MB (ASCP)CM, Lab Technician at Tennessee Oncology, who will share her experience verifying and implementing MSK-ACCESS® powered by SOPHiA DDM™. She will discuss analytical performance, workflow simplicity, and the ease of integrating the solution into a laboratory setting.
Key Discussion Points:
Learning Objectives:
July 8, 2026 | 1:00PM SGT
Liquid biopsy (LBx) has emerged as a non-invasive genomic profiling approach to guide decision-making and to monitor resistance in cancer, especially when access to tumor tissue is limited. However, one of the key challenges of LBx is distinguishing somatic variants from clonal hematopoiesis (CH)-derived variants, which can occur in biologically relevant genes and confound variant interpretation. In this webinar, Dr. Keller and Dr. Fares (IUCT Oncopole, France) will explore real-world cases where insights from MSK-ACCESS® powered with SOPHiA DDM™ helped inform decisions. The decentralized liquid biopsy solution integrates matched white blood cell (WBC) DNA sequencing to filter out CH and germline variants, increasing confidence in the somatic origin of detected alterations.
By attending this session, you will gain:
June 3, 2026 | 1:00PM SGT
Clinical Genomics at MSK
Michael Berger, Ph.D
Co-Director, Marie Josee & Henry Kravis Center for Molecular Oncology, MSKCC
Dr. Berger’s session will explore the development of MSK-IMPACT and MSK-ACCESS, MSK’s comprehensive genomic profiling andcfDNA analysis programs. These initiatives address the need for large-scale molecular profiling across diverse tumor types. A keyfocus will be the role of matched tumor-normal sequencing in reducing biological false positives, ensuring true somatic variantsare accurately identified while enabling seamless integration of germline analysis. Dr. Berger will also discuss how SOPHiAGENETICS has become a key collaborator, empowering MSK to expand the accessibility of precision oncology globally throughscalable, cloud-based solutions.
Advancing Precision Oncology with a Matched Tumor-Normal Approach: Insights from the Clinic
Anita Bowman, M.S,
Associate Director of Clinical Bioinformatics, MSKCC
Anita Bowman will delve into the clinical applications of MSK-IMPACT and MSK-ACCESS at MSK, illustrating how thesetechnologies meet the personalized needs of patients. Through real-world case studies, she will showcase how a matchedtumor-normal approach has enhanced diagnosis and treatment planning. This methodology not only minimizes false positivesbut also identifies clonal hematopoiesis of indeterminate potential (CHIP) and resistance mechanisms, improving precision intreatment strategies.
Learning Objectives
June 17, 2026 | 1:00PM SGT
Comprehensive genomic profiling (CGP) using a matched tumor-normal approach can help improve somatic detection rate and streamline interpretation.
MSK-IMPACT® powered with SOPHiA DDM™ is a CGP solution that leverages matched tumor-normal sequencing to filter germline variants and may also identify clonal hematopoietic variants, revealing mutations of true somatic origin. The end-to-end application combines the clinical expertise of Memorial Sloan Kettering Cancer Center (MSK) with the robust analytics of SOPHiA DDM™.
Join us and MSK to:
June 24, 2026 | 1:00PM SGT
MSK-ACCESS® powered with SOPHiA DDM™ offers an innovative and decentralized solution that combines MSK’s expertise in cancer genomics with the robust analytics of the SOPHiA DDM™ Platform. This application aims to address the global inequalities in comprehensive cancer care.
Watch to hear about the collaborative efforts of SOPHiA GENETICS and AstraZeneca in expanding global access to and adoption of MSK-ACCESS® powered with SOPHiA DDM™. In this session, you will
July 1, 2026 | 1:00PM SGT
Traditional genomic analysis often requires sequential testing or a “one-size-fits-all” comprehensive genomic profiling (CGP) panel, leading to time-consuming workflows and increased costs. The new MSK-IMPACT® Flex powered with SOPHiA DDM™ solution offers an agile and modular approach to CGP, enabling labs to achieve flexible, cost-efficient, and scalable analysis of solid tumors.
Built on the expert-designed MSK-IMPACT® assay and combined with the adaptive analytics of the SOPHiA DDM™ Platform, this end-to-end solution delivers high-resolution profiling of complex biomarkers from DNA and RNA. Labs can tailor biomarker coverage to each sample, with the flexibility to add RNA and homologous recombination deficiency (HRD) analysis as needed.
By attending this session, you will:
Presenters:
Lina Li, Director, Product Management, Application, SOPHiA GENETICS
SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise.
SOPHiA DDM™ Dx Hereditary Cancer Solution, SOPHiA DDM™ Dx RNAtarget Oncology Solution and SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution are available as CE-IVD products for In Vitro Diagnostic Use in the European Economic Area (EEA), the United Kingdom and Switzerland. SOPHiA DDM™ Dx Myeloid Solution and SOPHiA DDM™ Dx Solid Tumor Solution are available as CE-IVD products for In Vitro Diagnostic Use in the EEA, the United Kingdom, Switzerland, and Israel. Information about products that may or may not be available in different countries and if applicable, may or may not have received approval or market clearance by a governmental regulatory body for different indications for use. Please contact us to obtain the appropriate product information for your country of residence.
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