Assessment of Homologous Recombination Deficiency (HRD) and BRCA mutational status in high-grade serous ovarian carcinoma (HGSOC) samples has become crucial for personalized medicine, guiding treatment decisions, and predicting response to specific therapies, such as PARP inhibitors.

The aim of this multicentric study, published at this year’s European Society of Gynaecological Oncology (ESGO) conference was to assess the reliability and reproducibility of SOPHIA DDM™ Dx HRD Solution across three different hospitals (Hospital del Mar, Hospital Vall d’Hebrón and Hospital Clinic de Barcelona) to consider its implementation as a decentralized solution in routine molecular diagnostics.

Our Spanish team led by Giovanni Velotta, CS Manager at SOPHiA GENETICS, was happy to meet Dr. Gardenia Vargas, Molecular Geneticist and Responsible for Hereditary Cancer and Rare Disease Molecular Diagnosis at Hospital del Mar in Barcelona, Spain, who joined us for an insightful interview, sharing her experience in implementing SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution.

Watch or read the full interview with Dr.Vargas below:

  
Dr. Vargas thank you for joining us today! Could you please share with us more information about the scope of this multicentric study? What was the aim of it?

Before I answer I would like to thank you and thank AstraZeneca for their support in this study. I must mention that all my answers represent my own perspectives and not necessarily the official stance of the hospitals involved in this project. 
 
The study aimed to investigate the feasibility and effectiveness of implementing the SOPHiA DDM™ Dx HRD (Homologous Recombination Deficiency) Solution within the clinical setting of three hospitals. This includes evaluating various aspects such as the practicality of integrating the test into existing diagnostic workflows, the accuracy and reliability of test results, the impact on patient care and outcomes, and the potential benefits and challenges associated with in-house testing. The study seeks to provide valuable insights into the utility and suitability of adopting the SOPHiA DDM™ Dx HRD (Homologous Recombination Deficiency) Solution as a routine diagnostic tool for identifying HRD in ovarian cancer patients.

What has been the role of Hospital del Mar in this study and how was your experience being a part of this initiative? 

First of all, I must say that all three hospitals worked equally on this project, and the idea of doing it was born before I was incorporated to it.  Beatriz Bellosillo from Hospital del Mar was the principal investigator, and we had different responsibilities such as protocol writing, ethics approval coordination, securing funding to support the study's activities, and management and allocation of some resources like sequencing supplies. 
And of course, it was truly a rewarding experience collaborating with renowned hospitals and esteemed colleagues. 

What is your experience in implementing the SOPHiA DDM™ HRD Solution in your routine testing? 

Currently, while we have conducted a multicenter study to evaluate the feasibility of implementing the SOPHiA DDM™ Dx HRD Solution, we have not yet implemented it into routine diagnostic practice at my hospital.

The implementation process requires significant financial support, particularly for acquiring the necessary equipment, reagents, and personnel training. Additionally, to ensure cost-efficiency and timely responses to patients, we need to conduct sequencing runs with a minimum number of samples per run. 

Unfortunately, our hospital alone does not have sufficient sample volume to meet this requirement. Therefore, we are actively seeking financial support from government agencies to fund the implementation of the study. Additionally, we are exploring collaborative efforts with other hospitals or healthcare institutions to pool together an adequate number of samples for sequencing runs, thus reducing costs per sample and ensuring a rapid response to patients. 

By securing both financial support and an adequate sample volume, we aim to overcome these logistical challenges and proceed with the implementation of the SOPHiA DDM™ Dx HRD Solution into our diagnostic routine, ultimately enhancing our ability to provide efficient and effective patient care. 

What are the key takeaways of this study? 

It highlights the importance of collaboration among hospitals, government agencies, and other stakeholders to support the implementation of advanced diagnostic technologies into routine clinical practice. 
  
Overall, the study provides valuable insights into the challenges and opportunities associated with integrating advanced genomic testing into routine diagnostics, with the aim of improving patient care and outcomes. 

Would you consider the implementation of the SOPHiA DDM™ HRD Dx Solution as an efficient decentralized solution in routine molecular diagnostics? 

This collaborative study concludes that SOPHIA DDM™ Dx HRD Solution provides reliable and consistent results across different hospitals and sequencing runs. 

These findings contribute to the growing body of evidence supporting the use of the decentralized SOPHiA DDM™ Dx HRD Solution in clinical settings for genomic analysis. 

 
 
DISCLAIMER: SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. SOPHiA DDM™ Dx Homologous Recombination Deficiency Solution is available as CE-IVD product for In Vitro Diagnostic Use in Europe and Turkey.