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Accelerating and empowering our customers’ clinical cancer research decisions with cost-effective, accurate and fast in-house results.
This week is marking one year from the official launch of the SOPHiA DDM™ Homologous Recombination Deficiency (HRD) Solution. This is a milestone to celebrate, as with the introduction of our SOPHiA DDM™ HRD Solution, we introduced a cutting-edge, novel approach to HRD detection and supporting clinical researchers in their decision-making.
What is Homologous Recombination Deficiency (HRD) and why does it matter in cancer?
Homologous Recombination (HR) is a cellular process that repairs double-stranded breaks (DSBs) arising from DNA replication process or resulting from the exposure to DNA-damaging agents. Homologous Recombination Deficiency (HRD) is a condition that hinders the ability of cells to repair the double-stranded DNA break damage, therefore ultimately triggering oncogenesis1.
Damaged or falsely repaired DNA double strands lead to the accumulation of genomic scars which can be assessed by means of a Genomic Instability (GI)1. Deficiency in one (or more) homologous recombination genes, increases the risk for multiple malignancies2, while HRD is identifiable in multiplecancer types4-7. Some of the Homologous Recombination Repair (HRR) pathways genes most prevalently involved in the HRD phenotype are: BRCA1, BRCA2, RAD51C and PALB2.
How does the SOPHiA DDM™ HRD Solution allow clinical researchers to accelerate HRD detection?
At SOPHiA GENETICS, we are leveraging target capture technology and low-pass Whole Genome Sequencing (WGS) to isolate somatic and germline mutations in HR-associated genes.This permits the end user to identify pathogenic variants, such as SNPs and Indels, that could be potential causes of HRD.
In a single workflow, the SOPHiA DDM™ HRD Solution combines identification of mutations in 28 homologous recombination repair (HRR) genes beyond BRCA1 and BRCA2.
The unique value proposition of the SOPHiA DDM™ HRD Solution lies in the possibility of HRD testing in a decentralized format, supporting accurate detection of HRD status in a simple and intuitive platform that reduces turnaround time and costs.
We are extremely proud of having designed a sample-to-report application as a powerful tool for data-driven decision making by HCPs for the benefit of the ovarian cancer patients globally. In 2022, our expert bioinformatics and technical implementation teams facilitated over 30 SOPHiA GENETICS Set-Up Programs, supporting rapid adoption of the workflow across the globe, demonstrating high analytical performance and customer benefit maximization leveraging the capabilities of the SOPHiA DDM™ Platform.
SOPHiA DDM™ HRD Solution: A commitment to science, our customers and the world.
We, at SOPHiA GENETICS, are committed to improving science and healthcare outcomes across the world, developing cutting-edge technologies for our global customers and partners. To mark this 1-year celebration, we spoke to one of our partners, Diagnosticos da America (Dasa), about their experience with the SOPHiA DDM™ HRD Solution. Here are some insights from our collaboration:
SOPHiA GENETICS and Dasa celebrate a great milestone: 2,000 samples analyzed in less than two years!
Dasa is the largest integrated health network in Brazil, serving more than 20 million patients per year through more than 250,000 medical partners. Dasa became one of the frontrunners, introducing SOPHiA GENETICS's Solution for HRD as the first decentralized solution in Latin America.
“With such a large regional network, we needed a cost-effective HRD solution that helped improve our workflow efficiency. The decentralized approach of SOPHiA GENETICS has enabled us to increase our scalability and output – in less than two years, we've tested the HRD status of over 2,000 in-house samples. The powerful analytics of SOPHiA DDM™ have helped us to maximize genomic insights from these samples and advanced our clinical research capabilities.”, said Ana Gabriela, Dasa’s Genomic Business Unit Sr. Manager.
SOPHiA DDM™ HRD Solution: Going beyond BRCAness
SOPHiA GENETICS is expanding its capabilities by launching an extended Homologous Recombination Solution which allows to explore deficient HRR genes resulting in the HRD phenotype. The panel relies on high accuracy and coverage uniformity, while giving the user the ability to have their library ready for sequencing in 1.5 days.
Our extended solution delivers a comprehensive coverage of 28 genes involved in the HRR pathway, encompassing SNVs, indels and gene amplifications, while providing access to OncoPortal™ Plus, to classify variants leveraging evidence-based annotations from the JAX-CKB database.
Our aim is to expand our offerings in a platform-agnostic approach, that will further empower healthcare professionals to continuously improve their data-driven decision making.
We want to thank everyone who contributed to this success and looking forward to the next milestones to come. Together, we always achieve more!
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Some History Around This Date
Clinical Trials Day, May 20th, brings awareness to clinical trials, but most importantly it celebrates and recognizes the people who run clinical trials and their contribution towards improving health. May 20th marks the anniversary of what is considered to be the first randomized clinical trial, performed in 1747 by James Lind1. He conducted a controlled clinical trial that compared six treatments for scurvy in 12 sailors with scurvy who all lived in the same quarters and had the same diet. He was able to identify that the two men who were treated with fresh citrus had the most positive results, however he never concretely recommended this treatments as a cure for scurvy and continued to find other remedies since fresh citrus was in limited supply. Lind is recognized for his experimental methods when conducting this study, attempting to compare similar subjects, thus reducing confounding variables2. You can learn more about James Lind and his achievements here.
Clinical Trials Today: impacting lives in the precision medicine era
Clinical trials today have obviously advanced way beyond this approach; however, we can still see how trials are rooted in Lind’s work, analyzing different treatments to identify their effects on a disease. Clinical trial work today is not only more advanced but being conducted on a much larger scale and across the world. Since 1999 over 671,000 clinical trials have been registered with the World Health Organization, with just under 60,000 being registered in 2021 alone. These trials increase access and knowledge of experimental treatments.
Currently, there are around 4,000 active trials that are using targeted biomarkers associations for oncology. To truly test the efficacy and effectiveness of these drugs, it is imperative to find patients with compatible biomarker signatures for the treatment. As diagnostic testing advances, these biomarker signatures can become more and more specific.
Running these clinical trials would not be possible without the clinical research professionals that support them. These individuals work across a variety of functions and to maintain the integrity of the research through a wide range of duties including data collection, recruitment, development of documentation, education and so much more. We at SOPHiA GENETICS are happy to take time to recognize these individuals and we thank them for all they do to advance research, medicine, and care.
SOPHiA GENETICS Helps Sites Gather and Analyze Multimodal Data in their Population of Interest
In one of our ongoing clinical studies in lung cancer, the DEEP-Lung-IV study, we aim to leverage deep learning-enabled analysis to aggregate multimodal data (e.g., clinical, biological, genomic, and radiomics data) to identify and validate predictive signatures associated with response to immunotherapy and prognosis of patients with metastatic non-small cell lung cancer.
This international and multicentric project addresses an important translational research question in a pragmatic way. Our collective intelligence receives many negative or positive predictive signals (clinical, imaging and molecular signals) in this area, yet it is currently unable to integrate them in an intelligible way. The goal of the DEEP-Lung-IV project is to integrate all these individual, discrete predictive signals into an artificial intelligence-based framework to enable us to make this information intelligible and thus allow us to intelligently choose the first line of treatment for our patients.
Pr. Jacques Cadranel, Sorbonne Université and AP-HP Hôpital Tenon – Paris, France
SOPHiA GENETICS Supports Clinical Trial Recruitment with SOPHiA DDM Trial Match.
Accelerate biomarker-driven participant recruitment, even in rare biomarker cohorts with SOPHiA DDM Trial Match. This real-time site and patient identification analytical solution enables you to optimize clinical trial site selection ahead of clinical trial set up and supports your trial rescue strategy by finding additional centers for ongoing trials not meeting recruitment goals. Learn more about how SOPHiA DDM Trial Match can support identifying your targeted trial population.
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Pauline Lestarpé
Being creative by nature, I first decided to study marketing after my baccalaureate. I wanted to work in the world of packaging (cosmetics sector). I have always loved beauty products. Being able to create, draw, design, attracted me.
I didn't like the business school I chose at the time - I felt like I didn’t belong. I was young, and I didn't know what I wanted to do exactly yet. The only thing I knew at the time was that I really wanted to evolve in a multicultural environment. My father is ex-military, and we spent a bit of time abroad; we’ve lived in Rome for 3 years and spent 2 years in Karachi (Pakistan). I have been immersed in other cultures and languages since I was 5 years old.
I chose to reorient my education and went on to study international trade, but I know that I only chose this field for the “international” word in the title. With six months to spare before resuming classes, I looked for a temporary job. I was 19. My curiosity led me to join a company as a Human Resources Assistant. I didn’t know anything about HR at the time, but I was willing to learn. My manager took me under her wing and made me discover the field. And I loved it! I had finally found my way.
During my studies, I focused on HR internships. I could go back to Rome and intern there for a while. After graduating with a BTS, I went to an international business school and obtain a Master’s degree through professionalization, with a major in HR. Basically, it meant that I could study and work at the same time, earning a salary. This seemed like a pretty interesting deal to me.
I then landed my first job at the headquarters of a large international company. I had the chance to go on secondment to the UK and the US for varying lengths of time and develop my language skills. I stayed there for 5 wonderful years during which I was in charge of HR. Then, other equally fulfilling experiences (and sometimes less so) followed in a wide variety of sectors: the railway industry, sports, retirement homes, etc. In 2013, my husband and I left the big city to go back to the roots – to the Basque Country.
My very last experience before joining SOPHiA GENETICS has been a turning point. We’re end of 2018, and I work in a company that’s doing badly. A big buyout was planned, my job was impacted, and I was about to be laid off. The business sector was a pretty glamourous one, but the reality behind the scenes was very much less so. For a year, I had been watching my job lose momentum and witnessing changes that frightened me. I preferred to choose to leave before someone cut my head off. I decided I had to remain the master of my destiny and my choices, and that I needed to contribute to something bigger than me, something that would make a lasting impact.
That’s when I heard about SOPHiA GENETICS. The fact that it was a growing company, always innovating and moving forward, really attracted me – and in the Basque Country! It seemed to have it all: a sector of activity that was unknown to me but that aroused my curiosity and fascination. A position where everything had to be built. I was starting from scratch. It was scary, but at the same time I could feel the adrenaline of the situation. I like to say that I am like a diesel engine: give me things and I am happier. I couldn't get into a monotonous mindset. I decided it was time for me to contribute to something more impactful, more useful to society, especially since cancer is a disease we’re all confronted to at some point, directly or indirectly.
I jumped into the unknown and I am now a Senior Human Resources Business Partner at SOPHiA GENETICS, taking care of our French and Belgian workforce. To sum it up, my job is to deploy our HR policy, but it’s multi-faceted and I never get bored. No two days are alike. My primary interest is to contribute to providing the best possible service to employees and it’ s much more gratifying (and in in-line with my values) to work for a company that’s revolutionizing healthcare rather than selling boardshorts.
As an HR person, it is actually quite rare to be working in a growing company. Usually, a company is in need of us when they need to restructure and lay off people. At SOPHiA GENETICS, not only are we growing – fast – but the overall situation is really something else. Of course, the multicultural aspect is a very important one for me; I love to speak other languages and learn from people with different backgrounds, origins and culture. In the Basque Country, there are very few companies of the kind. But the most striking thing is the culture. I’m surrounded by people who truly love what they do and from whom I can learn every day. Our sector of activity is a complex but fascinating one, and the end mission is empowering. We’re all invited to give the most of ourselves, to surpass our own capabilities, to express our ideas and to be actors of our own development, all of this in a healthy give and take relationship with one another. That’s what SOPHiA GENETICS is about: we’re a team of heroes.
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 at [email protected] to obtain the appropriate product information for your country of residence.
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