Classification guidelines for myeloid malignancies have undergone more changes in the last three years than in the previous decade. The 2022 WHO and International Consensus Classification updates went beyond adjusting diagnostic thresholds, they fundamentally redefined what constitutes a complete genomic profile, expanding the alterations that need to be detected, the variant types that need to be investigated, and the findings that have direct relevance to treatment decisions and patient monitoring.​

For many laboratories, keeping pace with these changes has required the adoption of broad-coverage NGS applications. At Unidade Funcional de Hematologia Molecular, Unidade Local de Saúde de Coimbra, one of Portugal's national reference centers for hemato-oncology, Dr. Margarida Coucelo has led that transition, investigating myeloid malignancies across the full disease spectrum, from chronic conditions such as myeloproliferative neoplasms (MPN) and myelodysplastic syndromes (MDS) through to acute leukemias. That breadth of caseload, combined with the center's role as a referral hub receiving samples from institutions across the country, means that the quality and completeness of every genomic
report carry significant value for clinical teams.​

In this webinar, Dr. Coucelo will share that experience through real cases, illustrating how a comprehensive DNA-based NGS approach can contribute to the identification of relevant variants and support discussions around treatment options and risk stratification. Cases will span a range of scenarios, from the detection of rare fusion genes and somatic variants to consolidating germline predisposition testing within a single workflow, to building a more complete picture to guide more robust clinical decisions. ​

This webinar offers an opportunity to explore how expanded NGS workflows are being applied in a high-volume reference setting, and what that experience may mean for laboratories navigating the evolving landscape of myeloid malignancy testing.​

El GENOMiCS INSIGHTS Day Costa Rica se llevará a cabo el próximo 28 de julio, en el Hotel Four Points. El evento contará con la participación de especialistas y clientes que compartirán su experiencia real en la práctica clínica, abordando temas de alto impacto: desde el estudio de exoma completo en población costarricense hasta la caracterización molecular de neoplasias mieloides mediante secuenciación NGS.

La jornada reunirá experiencias concretas de clientes que utilizan la plataforma SOPHiA DDM™ en su día a día, ofreciendo una perspectiva directa sobre su impacto en el diagnóstico molecular y la toma de decisiones clínicas. El evento culminará con una mirada hacia el horizonte de la genómica en hemato-oncología, presentada por nuestro equipo de expertos.

 A continuación, encontrará la agenda preliminar del evento

What: SOPHiA GENETICS Exclusive Networking event

Where: Four Points by Sheraton Sabana

Date: 28 de julio

Time: 14h00-17h:00

Agenda

Why Attend?

Descubra SOPHiA DDM™: una plataforma compatible con múltiples tecnologías, con infinitas posibilidades

Conozca cómo SOPHiA DDM™ permite realizar análisis precisos en diversas áreas de la medicina, desde oncología hasta enfermedades raras.

Aborde los desafíos actuales de la práctica clínica y la investigación

Participe en una conversación sobre el futuro de las instituciones de salud e investigación y descubra cómo aprovechar el potencial de los datos de secuenciación de nueva generación (NGS) para generar resultados rápidos, sólidos y accionables que faciliten una toma de decisiones informada.

Conecte con líderes de opinión y expertos del sector

Interactúe con colegas, investigadores y usuarios de la plataforma SOPHiA DDM™ en un espacio diseñado para el intercambio de conocimientos, experiencias y oportunidades de colaboración científica.

Accurate and comprehensive genomic insights are increasingly essential for the diagnosis, classification, and risk stratification of myeloid malignancies — spanning single nucleotide variants, gene fusions, and large chromosomal aberrations. Yet consolidating these layers of genomic data into routine clinical workflows remains a significant bottleneck for many laboratories.​

In this webinar, join Cecilia Lang, Biochemist and Head of Cytogenetics at Laboratorio de Especialidades Bioquímicas (LEB, Argentina), and Brandon Bullough, Product Marketing Director at SOPHiA GENETICS, as they explore how NGS-based molecular profiling with the SOPHiA DDM™ Myeloid Solution v2 (MYS2) can consolidate laboratory workflows and accelerate time-to-insights in the analysis of myeloid malignancies.​

Brandon Bullough will open with an overview of SOPHiA DDM™ MYS2, tracing the need that drove its development and what sets it apart as a comprehensive myeloid solution. Cecilia Lang will then share her team's real-world experience implementing SOPHiA DDM™ MYS2 at a cytogenetics-focused reference center in Latin America — including its practical impact on day-to-day workflows and her perspective on where the field is headed.​

Learning objectives​

• Understand the rationale behind the development of a comprehensive application for myeloid malignancies​
• Learn how SOPHiA DDM™ MYS2 has complemented and streamlined cytogenetic workflows at LEB​
• Explore its impact on the detection of chromosomal aberrations compared to standard cytogenetic methods​
• Discover patient cases where the comprehensive NGS profiling has a meaningful impact​
• Gain perspectives on the future of integrated molecular and cytogenetic analysis for diagnostic insights​

Speakers

Cecilia Lang
Head of Cytogenetics and FISH
Laboratorio de Especialidades Bioquimicas, LEB

Andrea Bender
Head of Molecular Biology
Laboratorio de Especialidades Bioquimicas, LEB

Brandon Bullough
Product Marketing Director, Blood Cancers
SOPHiA GENETICS

Real-world insights from Hospital Mário Penna

In this webinar, we explore how the MaxCare Program supported Hospital Mário Penna in implementing and adopting into routine two new NGS applications for the investigation of myeloid and lymphoid malignancies. The program empowered the local team to gain confidence in their results while assessing and establishing the analytical performance of the workflow.

Hospital Mário Penna shares their experience with SOPHiA GENETICS’ end-to-end implementation support, covering every step of the process—from strategic consultation and on-site training to data generation and analytical performance evaluation by the data science team, all tailored to the laboratory’s real-world context. The session concludes with the transition of these tests into routine practice, illustrated through two case studies: one in acute myeloid leukemia (AML) and the other in chronic lymphocytic leukemia (CLL).

Speakers:

Carolina Pereira de Souza Melo, PhD,
Researcher, Basic and Translational Oncology Research Laboratory, Instituto Mário Penna, Brazil

Gabrielle Martins Gonçalves, MSc,
SOPHiA GENETICS Implementation Scientist LATAM

Day: May 14th
Time: 11h BR/AR l 10h CL l 9h CO/PA l 8h MX/CR

Juan C. Gomez-Gelvez, MD 
Section Head, Molecular Hematopathology — Henry Ford Health System 

Measurable residual disease (MRD) represents the small number of leukemic cells that persist after treatment—undetectable by morphology yet clinically decisive. MRD status is now recognized as one of the strongest predictive and prognostic biomarkers in acute myeloid leukemia, influencing relapse risk, survival, and post-remission management. 

In this on-demand session, Dr. Gomez-Gelvez walks through the principles, practicalities, and impact of using NGS to detect MRD with high sensitivity. 

What You’ll Learn 

• Why MRD matters in AML clinical research
  Its role as a potential predictor of relapse and treatment response. 
• How NGS compares to existing modalities 
  Insights into ELN recommendations, and sensitivity comparisons with flow cytometry and other molecular methods. 
• Building a reliable NGS-MRD workflow 
  Key considerations for assay design, including: 
  – Optimal sampling time points 
  – Marker selection and deamination-filtering criteria 
  – Pre-analytic and analytic validation requirements 
• Early findings from a 33-gene NGS panel analysis 
  Demonstrating achievable sensitivity down to 0.01% (10⁻⁴) and highlighting its broad applicability across AML profiles. 

Key Takeaways 

• NGS-based MRD assays deliver high sensitivity, even in patients lacking recurrent fusions or PCR-amenable mutations. 
• MRD positivity by NGS is strongly associated with higher relapse risk and worse survival. 
• Standardization across sampling, assay parameters, and reporting is critical for clinical implementation. 
• As evidence grows, NGS-MRD is poised to become central in risk stratification, post-remission therapy decisions, and clinical trial endpoints. 

Why Watch? 

If you’re advancing AML diagnostics or shaping MRD strategies, this session provides clear, practical guidance from clinical concept through real-world application. 

Melania Abreu González, MD/MS 
Clinical Geneticist & Co-Founder, Genos Médica (Mexico) 

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults across Western countries, but its incidence in Latin America is 3–5× lower, with some of the lowest rates observed in regions with high Amerindian ancestry. In Mexico, CLL represents only 7% of leukemia cases in Mestizo populations, making comprehensive molecular insights rare and highly valuable. 

In this focused on-demand session, Dr. Abreu shares new learnings from targeted NGS analysis in the low-prevalence Mexican population and discusses how modern tools can reshape CLL assessment, stratification, and accelerate decision-making. 

What You’ll Learn 

• CLL’s molecular and clinical heterogeneity 
  Why predicting outcomes remains challenging and how genetic alterations shape prognosis and therapy. 
• The value of NGS for CLL analysis 
  Consolidated detection of SNVs, Indels, CNVs, and IGHV status; improved visibility of clonal populations; and enhanced cost efficiency with batch processing; seamless integration with IgCaller for immunoglobulin rearrangement characterization. 
• Practical workflow advantages 
  How a single, scalable NGS application can: 
  – Improve efficiency 
  – Support earlier risk stratification 
  – Maintain high-quality variant characterization while reducing overall costs 

Why Watch? 

Get clear, real-world guidance on optimizing CLL workflows and generating meaningful insights in populations where data is limited. 

Blood Cancers Showcase

Translating NGS Workflows into Real-World Impact in Hemato-Oncology​

You are invited to join our networking event on hematologic malignancies during the 2025 Association of Molecular Pathologists Annual Meeting & Expo in Boston, USA. ​

Connect with peers and leading experts to explore how NGS-based solutions are advancing the investigation of complex variants in hematological malignancies.​

During this event, speakers from renowned institutions will share real-world experiences implementing diverse NGS applications, including:​

• Comprehensive solutions to capture the complexity of myeloid malignancies​
• Targeted applications optimized for indications with restricted mutational profiles, such as chronic lymphocytic leukemia (CLL)​
• Innovative measurable residual disease (MRD) tools for monitoring treatment response in acute myeloid leukemia (AML).​

This is your opportunity to learn how peers are overcoming technical hurdles, realizing practical benefits, and applying NGS strategies to make genomic interpretation and decision-making in blood cancers more efficient.​

About the Event​

What: Blood Cancer Showcase at AMP
Where: Omni Hotel - Marquee Room​
Date: November 12th ​
Time: 6:30 pm – 8:15pm ​

Speakers​

• Gayatry Mohapatra, PhD – Assistant Professor, Department of Pathology – University of Illinois Chicago (US)
• Melania Abreu González, MD – Clinical Geneticist – Genos Medica (Mexico)
• Juan C. Gómez-Gelvez, MD – Hematopathologist, Molecular Pathologist and Section Head of Molecular Hematopathology – Henry Ford Health (US)

Agenda to follow​

Reserve your seat to this exclusive event on Wednesday, November 12th starting at 6:30 pm. ​

The diagnostic, prognostic, and treatment landscape of myeloid malignancies is evolving rapidly, with genomic biomarkers increasingly defining disease diagnosis and classification. Given the continuous discovery and refinement of genomic testing requirements in the context of changing (targeted) therapies and reimbursement recommendations, there is an increasing need for genomic solutions that keep pace with clinical and regulatory demands while remaining adaptive and flexible for future advancements.

In this webinar, Weei-Yuarn Huang, medical director for molecular diagnostics, and Hubert Tsui, head of hematological pathology, precision diagnostics and therapeutics program at the Sunnybrook Health Science Centre, will explore their recent experiences providing accurate, timely genomic results in myeloid malignancies and potential new solutions that will further enhance relevant biomarker delivery for hematology physicians and patients.

Measurable Residual Disease (MRD) is a crucial biomarker for analyzing and tracking tumor evolution, evaluating treatment effectiveness, and predicting relapse in acute myeloid leukemia (AML). Among the various technologies used to detect MRD, next-generation sequencing stands out for its exceptional sensitivity and specificity.

In this webinar, Silvia Salmoiraghi, biologist at ASST Papa Giovanni XXIII Hospital in Bergamo, Italy, discuss the performance of the SOPHiA DDM™ Residual Acute Myeloid (RAM) Solution.

We are thrilled to announce our participation in the ESMO Asia Congress 2024!

Join the SOPHiA GENETICS team at booth #E406 and explore how we are driving groundbreaking innovations in cancer research and treatment.

From our collaboration with Memorial Sloan Kettering cancer Center to decentralize MSK-ACCESS and MSK-IMPACT, to our launch of SOPHiA DDM™ Residual Acute Myeloid (RAM) Solution, we are committed to supporting clinical researchers with variant detection and analysis, biomarker discovery, and therapy selection.

We look forward to connecting with you at ESMO Asia 2024!