Beatriz Hidalgo, Hereditary Cancer Unit, Hospital Universitario 12 de Octubre, Madrid in collaboration with SOPHiA GENETICS; scales testing with robust standardized workflows.

User Spotlight: Beatriz Hidalgo, Hospital Universitario 12 de Octubre - SOPHiA GENETICS

User Spotlight: Beatriz Hidalgo, Hospital Universitario 12 de Octubre

In this spotlight, Beatriz Hidalgo from Hereditary Cancer Unit at Hospital Universitario 12 de Octubre shares insights from a decade of collaboration with SOPHiA GENETICS and how robust, standardized workflows are helping her team navigate growing testing volumes and increasingly complex genomic data in hereditary cancer.

Home User Spotlight: Beatriz Hidalgo, Hospital Universitario 12 de Octubre

SG: Hi Beatriz, can you please introduce the Hereditary Cancer Unit at Hospital Universitario 12 de Octubre and its role within the broader oncology and genetics landscape?

BH: The Hereditary Cancer Laboratory at Hospital Universitario 12 de Octubre has been a reference unit for hereditary cancer genetic testing within the Madrid Regional Family Cancer Program since 2009. We provide services to multiple hospitals across the Madrid region, including Hospital de Móstoles, Hospital Severo Ochoa, and Hospital de Getafe, among others, supporting a population of more than two million inhabitants.

The Hereditary Cancer Unit at Hospital Universitario 12 de Octubre is a multidisciplinary unit dedicated to the diagnosis, genetic counseling, and research of hereditary cancer predisposition syndromes. We work closely with oncologists, pathologists, pediatricians, and high-risk clinics within the gastroenterology and gynecology departments to provide comprehensive care for patients and families with suspected genetic susceptibility to cancer.

Our role is becoming increasingly important within the field of precision oncology, as the identification of germline alterations not only enables risk assessment and the implementation of prevention and surveillance strategies, but also helps guide therapeutic decisions and expand access to targeted therapies.

SG: How has demand for hereditary cancer testing evolved in recent years?

The demand for hereditary cancer testing has increased very significantly in recent years. This is primarily due to greater awareness among healthcare professionals of the clinical impact of genetics in oncology. In addition, the incorporation of germline biomarkers into clinical guidelines and therapeutic decision-making has considerably expanded the indications for genetic testing.

We have also observed an increase in both the complexity of cases and the number of genes being analyzed, which requires robust bioinformatics tools and highly standardized workflows to ensure reliable and reproducible results.

SG: When did your collaboration with SOPHiA GENETICS begin, and what initially motivated your team to adopt the SOPHiA DDM™ Hereditary Cancer solutions?

Our collaboration with SOPHiA GENETICS began in 2017 with the BRCA panel and became firmly established in 2019 when we transitioned to the CHCS panel, at a time when we were looking to consolidate and scale our next-generation sequencing activity in hereditary cancer.

“What motivated us to adopt the SOPHiA DDM™ solutions was the need for a platform that combined analytical accuracy, automation capabilities, and strong support for clinical variant interpretation. In addition, SOPHiA DDM™ provided us with an integrated and validated environment capable of adapting to the continuous growth of both our diagnostic and research activities.”

SG: What challenges or unmet needs were you looking to address at the time?

BH: One of the main challenges was optimizing the analysis and interpretation of an increasing volume of genomic data while maintaining appropriate turnaround times and high quality standards.

We were also looking to improve traceability, consistency in variant interpretation criteria, and our ability to efficiently review complex variants.

SG: What stood out to your team during the evaluation and implementation process?

BH: We particularly highlighted the robustness of the bioinformatics pipeline, the ease of variant visualization and interpretation, and the ability to standardize processes across different users.

“In addition, we highly valued the quality of the documentation, the ease of implementation within the laboratory, and the technical and scientific support provided throughout the entire process”

One of the aspects we value most about the SOPHiA DDM™ solutions for hereditary cancer is the dedicated pipeline designed to resolve variants in the highly homologous PMS2 region and its pseudogene PMS2CL, as well as the detection of Alu insertions and the Boland inversion. This provides us with a very powerful tool for identifying and resolving the full spectrum of variants described in the context of hereditary cancer.

SG: What value does combining SOPHiA DDM™ with Alamut Visual Plus bring to your interpretation and reporting processes?

The combination of SOPHiA DDM™ and Alamut Visual Plus provides a highly comprehensive environment for variant assessment.

“SOPHiA DDM™ delivers robust and efficient bioinformatics analysis, while Alamut Visual Plus enables deeper interpretation through the integration of multiple evidence sources and predictive tools for variant classification.”

SG: How has this integrated approach improved efficiency or confidence in variant analysis?

BH: This integrated approach has allowed us to reduce analysis turnaround times and improve consistency among different analysts. Having a centralized tool containing all relevant information simplifies the evaluation process and minimizes the need to work across multiple independent platforms .

In addition, it enables us to perform more homogeneous and reproducible workflows, which is essential in a clinical setting where quality and traceability are critical.

SG: How have these solutions contributed to improving hereditary cancer research outcomes?

BH: These tools allow us to efficiently manage larger and more complex cohorts, facilitating both the identification of relevant variants and the retrospective review of cases. They also contribute to strengthening the quality of the generated data and improving our ability to correlate molecular findings with clinical information, which is essential in translational research.

SG: How important is consistency and reliability when working with hereditary cancer variants and complex cases?

BH: They are absolutely essential, as the clinical decisions derived from a genetic study can have a significant impact not only on the patient but also on their relatives.

“It is crucial for us to work with reliable, reproducible, and well-validated tools that help maintain consistent interpretation criteria and minimize variability between analysts and across centers.”

SG: How would you describe your collaboration with SOPHiA GENETICS over the years?

BH: We have maintained a close and well-established collaboration for nearly 10 years, during which we have been able to adapt and optimize different aspects of our laboratory workflow thanks to close communication, continuous support, and the constant evolution of the tools, ultimately contributing to improvements in both our diagnostic and research activities in hereditary cancer.

SG: What role has scientific exchange and ongoing support played in maximizing the value of the platform?

BH: They have been key aspects. Scientific support and continuous training are essential for the proper implementation of advanced genomic technologies.

“Technical support, together with opportunities for exchange with other centers and experts, has contributed to maximizing the performance of the platform.”

SG: What advice would you give to institutions looking to strengthen their hereditary cancer programs through genomic technologies?

BH: I would recommend investing in solutions that not only offer high analytical capacity, but also facilitate clinical integration, standardization, and long-term sustainability.

SG: In one sentence, how would you summarize the value of your partnership with SOPHiA GENETICS in advancing hereditary cancer research outcomes?

“After nearly 10 years of collaboration, SOPHiA GENETICS has enabled us to establish a more robust, efficient, and reliable genomic analysis environment, helping us continuously evolve and optimize our workflows through close communication and increasingly powerful tools. This has contributed to improving both our diagnostic and research activities in hereditary cancer.”

Thank you, Beatriz, for sharing your experience and highlighting how the right combination of technology and collaboration can strengthen hereditary cancer diagnostics and research.We can’t wait for what’s next and what we keep building, together.

At Hospital Universitario 12 de Octubre, Beatriz Hidalgo and her team are helping advance hereditary cancer diagnosis and research through a combination of clinical expertise, genomic innovation, and standardized workflows. As demand for genetic testing has grown in both volume and complexity, the Hereditary Cancer Unit has relied on robust bioinformatics and interpretation tools to support efficient, reproducible analysis across a broad range of hereditary cancer variants. In this spotlight, Beatriz shares how the team’s nearly decade-long collaboration with SOPHiA GENETICS has helped strengthen their diagnostic and research capabilities, streamline variant analysis, and build a more reliable genomic environment that can evolve alongside the needs of precision oncology. SG: Hi Beatriz, can you please introduce the Hereditary Cancer Unit at Hospital Universitario 12 de Octubre and its role within the broader oncology and genetics landscape? BH: The Hereditary Cancer Laboratory at Hospital Universitario 12 de Octubre has been a reference unit for hereditary cancer genetic testing within the Madrid Regional Family Cancer Program since 2009. We provide services to multiple hospitals across the Madrid region, including Hospital de Móstoles, Hospital Severo Ochoa, and Hospital de Getafe, among others, supporting a population of more than two million inhabitants. The Hereditary Cancer Unit at Hospital Universitario 12 de Octubre is a multidisciplinary unit dedicated to the diagnosis, genetic counseling, and research of hereditary cancer predisposition syndromes. We work closely with oncologists, pathologists, pediatricians, and high-risk clinics within the gastroenterology and gynecology departments to provide comprehensive care for patients and families with suspected genetic susceptibility to cancer. Our role is becoming increasingly important within the field of precision oncology, as the identification of germline alterations not only enables risk assessment and the implementation of prevention and surveillance strategies, but also helps guide therapeutic decisions and expand access to targeted therapies. SG: How has demand for hereditary cancer testing evolved in recent years? The demand for hereditary cancer testing has increased very significantly in recent years. This is primarily due to greater awareness among healthcare professionals of the clinical impact of genetics in oncology. In addition, the incorporation of germline