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According to the World Health Organization, over 400,000 children and adolescents (0-19 years old) are diagnosed with cancer (1), while every 3 minutes, a child loses the battle with the disease. Although childhood cancer incidence is rare, it is the leading cause of disease-derived deaths past infancy (children and adolescents 0-19 years old) in the US and other developed countries (2). The most common types of cancer in children and adolescents are leukemias, lymphomas, central nervous system (CNS) and brain tumors (3).
This year, the focus of the International Childhood Cancer Day (ICDD), is to pay tribute to the groundbreaking impact that families and caregivers are having on children and adolescents with cancer. Additionally, the day is focused on raising awareness around the World Health Organization (WHO) Global Initiative for Childhood Cancer, an initiative aiming to achieve at least 60% global survival and reduce suffering of all children with cancer, by 2030 (3).
Raising awareness about childhood cancer requires a multi-faceted approach, as the impact of childhood cancer goes far beyond physical health. The emotional and financial toll on families and on survivors can also be overwhelming. Children and adolescents who survived cancer, often deal with treatment-derived comorbidities, cognitive impairment, heart disease, high risk for secondary tumors and others(4).
Despite the significant progress made in the field of childhood cancer, contributing to the decrease of cancer deaths, there is still work to be done. The overall incidence of childhood cancer has an average increase rate of 1% per year from 1997(4). In developed countries, approximately 80% of the childhood cancer incidents are treated, whereas low and middle-income countries (LMICs)the survival rates dramatically drop to 30% due to the lack of awareness, tools for timely and accurate diagnosis, inaccessibility to care, and relapse(5,6,7).
Do you want to know more about the Childhood Cancer survival rates in your country? Click here.
As childhood cancer prevention is not generally feasible, a comprehensive strategy is urgently needed to reduce the burden of cancer in children and improve patient outcomes . Coordinated efforts are needed from global governments, industry experts, Non-Governmental Organisations (NGOs) and civil society to build prompt and accurate diagnosis pathways, accompanied with personalized and evidence-based treatment decisions, as well as tailored long-term supportive care for cancer survivors.
Everyone touched by cancer needs a prompt and clear path to the right care. We, at SOPHiA GENETICS, simplify complex data and reveal what matters most.
Genomic-powered precision medicine is at the forefront of innovation in cancer research. Advancements in next-generation sequencing (NGS) technology have brought a new era in cancer care, expanding our understanding of pathogenic variants triggering oncogenesis and therapeutic targets.
Genomic research is playing a critical role in the battle against childhood cancer through identifying new targets and personalizing treatment options, developing new diagnostic tools, improving risk stratification as well as advancing immunotherapy solutions(8).
By providing biologically actionable in the underlying biology of childhood tumors, we can provide information and access to relevant clinical trials, effective existing treatment schemes and improved outcomes for children with cancer worldwide. Our CE-IVD bundle solutions empower data-driven decisions at all stages of the cancer research journey through a combination of accurate healthcare data analysis, intuitive interpretation functionalities, and secure knowledge sharing.
Our commitment is to provide clinician researchers and caregivers with evidence-based clinical decision tools, to establish research collaborations to unravel the pathophysiology of various cancers and unleash the power of precision medicine, leveraging our AI-based platform and solutions.
By continuing to invest in cancer research, we aim to actively contribute to the elimination of cancer-related deaths. Fighting childhood cancer is essential for building a healthier, equitable and prosperous future for all. Working together, we can make a significant progress in the battle against childhood cancer and bring a positive impact in the lives of children with cancer and their families.
Every effort matters, and every voice is necessary. Global advocacy raises awareness and can therefore bring a change and hope to childhood cancer. By using social media to support and participate in relevant events and organizations, educating yourself and others you can help make a difference in the fight against childhood cancer.
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The new building offers additional office space for the growing workforce of our Swiss HQ, as well as a brand-new R&D lab, replacing our former lab in Geneva. The layout and infrastructure of these new facilities is specially designed to accommodate various requirements including Experimental Quality Check to Supply Chain and more, offering a tailor-made environment to meet our company's R&D activities.
Led by none other than our CEO, Jurgi Camblong, a special tour of the new office was offered to representatives of the State of Vaud where the building is located. Celebrations continued with speeches by State Counsellor Philippe Leuba and our CEO, who cut the inaugural ribbon together.
"These last 10 years have been quite incredible; we’d never have thought we’d be filling up a location this big when we started in 2011 in a 530 square foot space with a handful of people. Today, we’re opening an office and lab that is 100 times bigger – almost 54,000 square feet! SOPHiA GENETICS is growing, and with it, our growing social responsibility to continuously make the best use of our resources and talent to help create new paths for medical research worldwide. We call it democratizing data-driven medicine, together.”
Jurgi Camblong, CEO and Founder
24 Heures, Sept 1st
https://www.24heures.ch/nee-a-lepfl-sophia-genetics-va-amener-350-emplois-a-rolle-845679550550
L’Agefi, Sept 1st
https://agefi.com/actualites/entreprises/venir-a-rolle-nous-permettra-de-grandir-confortablement
In the heat of the summer there’s no place most people would rather be than the beautiful outdoors. These days, our limited time outside with friends and family is precious. But while we all get swept up by the seasonal fun in the sun, it’s easy to forget about that range of invisible, yet harmful UV rays.
In recent years, our thinning atmosphere has allowed those rays to reach us at increased levels. As skin cancer concerns increase, what lies within your genetic makeup may tell a larger story as to how those harmful rays affect us individually.
How do my genes relate to skin cancer?
Many studies show that ultraviolet rays from the sun, and even artificial sources like tanning lights and beds, can increase your risk of developing skin cancer. They can also cause premature aging, liver spots, and damage your eyesight. This is because UV rays cause carcinogenesis — corruption of healthy cells that form cancer cells — by damaging and mutating your DNA. But, your genetics play a role in determining how your body will react to those UV rays at a molecular level.
A common phrase you may hear at the beach is, “I burn easily.” It’s clear that certain skin types tend to have more severe reactions to the sun. Those reactions are often more than skin deep and need to be studied beyond what the eye can see. Some inherited genetic mutations are red flags to a clinical genomic researcher. These biomarkers aren’t easy to spot, but if they’re present, they could indicate how susceptible the skin is to being damaged by the sun.
Decentralized Next Generation Sequencing (NGS) drives personalized medicine
By analyzing a sample of tissue or blood, NGS can draw upon large sets of complicated biological data to show physicians many possibilities about an individual’s health at a very precise level. However, the challenge is being able to navigate through the endless sets of molecular data that these sequencing tests can produce.
Advancements in artificial intelligence technology and the expertise of bioinformaticians can simplify the most complicated sequencing of our molecular data. With expedited in-house analysis at local labs, personalized treatment plans or paths for preventative skin care can be discussed between the patient and the doctor well before any health irregularities become obvious or concerning. Expedited in-house analysis for regional labs eliminates the often-lengthy step for local researchers needing to send samples to larger sites for this kind of in-depth analysis.
Personalized care starts with you
The best place to start is by taking the proper steps to protect your skin from UV rays. Make sure you read the label on your sunblock of choice. Not all are created equal. Some sunscreens protect against larger ranges of ultraviolet light than others. Recently, some sunscreens have been recalled for containing cancer-causing chemicals, so it’s important to know what you’re putting on your skin beyond just a simple SPF check. The American Cancer Society offers plenty of resources for you to research the best preventative care for you.
SOPHiA GENETICS has technology that advances skin cancer research around the world through democratized Data Driven Medicine. The goal is to enable preventative care paths for the individual and to give clinicians the research they need for cancer breakthroughs and discoveries. To learn more, check out our complete portfolio of SOPHiA DDM™ solutions for oncology or get in touch with one of our experts today.
My one inspiration in life has always been my family. Each and every one of them has given me so much, but it’s my uncle, in particular, who helped me discover and pursue my passion for science. He’s a very talented scientist and his success story in the field really inspired me to try and follow in his footsteps. Our discussions were always revolving around nourishing and exciting topics such as string theory, black holes, supersymmetry, etc - and the reason why my first aspiration was to become a theoretical physicist.
I quickly realized that I needed to study and work in a field that is more exciting and stimulating on a daily basis that theoretical physics. I have always been passionate about mathematics and computers ever since I was a kid, so when the time to choose arrived, I went on to study Computer Science at KNU, in Kyiv, Ukraine. My other passion in life has always been traveling, opening to the world, and discovering other cultures; that’s why after winning a scholarship for COPERNIC program I have moved to Paris, France to study Business Administration at Sciences Po.
Being particularly drawn to the field of technology in general, I was then looking for a job that could combine this passion with my education and an exciting environment for me to work in. I heard of SOPHiA GENETICS, and it seemed like the kind of company I wanted to be a part of. Health, data, scalable services, cloud computing, web, opensource, innovation… all of these words reflect my personal interest and are at the core of what the company does every day.
I now live in the beautiful French Basque country with my family, working as a Senior Software Development Engineer.
My main focus of work is building new platform services powering data transfer that will be at the core of the new SOPHiA DDM™ platform. On the day-to-day, it means that I am solving challenging problems of data transfer. It is very rewarding, and it makes me grow as an engineer a little more every day. I am part of a great team - the so-called Plancha team - and we all lift each other up in the most challenging way. We deal with scaling problems, performance bottlenecks, internals of algorithms and protocols for distributed systems, micro-service architectures patterns, failures at scale etc, while also regularly meeting with customers. When a new customer is using the platform, we have onboarding call to help them with automating uploads by using the uploader CLI tool. This helps us understand their needs and better prioritize the products we build.
It’s important for my team, and for the whole company, to have this proximity with our customers; it gives us important insights and directions to help us fulfil our mission: helping healthcare institutions to improve people’s health across the globe. It’s incredible to work for a company that is full of great people at every level, working together toward the same goal.
If I had to sum up what it’s like to work at SOPHiA GENETICS, I would say it just combines all the elements you could possibly be looking for in a job. First of all, I am lucky enough to be working in our French R&D office in Bidart which really is a dream location, close to the sea. Also, the job in itself is stimulating. I’m surrounded with a brilliant team, and we solve challenging technical and scientific issues; it never gets boring! But what is truly amazing is the bond we, as colleagues, all share. We come from all over the world, from different backgrounds, we don’t speak the same language and don’t have the same culture, but we all learn from one another and grow together, united by the same exceptional company mission. I may not have become an astrophysicist working on black holes, but with the SOPHiA team around me, I am for sure - we are all - reaching for the stars!
At SOPHiA GENETICS, we believe that diversifying data modalities is the key to have better insights on diseases. That’s why, on top of genomics, our Radiomics R&D team is working on medical imagery analysis.
Applying their expertise to oncology specifically, members of the team just co-signed a newly published peer-reviewed paper hand-in-hand with several of our key partners in France. This promising paper, published in Neuro-Oncology, described the development of new evaluation criteria of treatment response in clinical trials for high-grade meningiomas.
Their observations and results support the need of the clinical community for new and improved evaluation criteria. Some criteria used in oncology today have not kept pace with the advances of precision medicine. Our team aimed to develop alternatives that have the potential to be better indicators of the response to current and future treatment protocols. Modern technologies such as AI, machine learning, and image segmentation can help develop imaging biomarkers that have the potential to redefine today's gold standards.
Thierry Colin, VP of Radiomics research at SOPHiA GENETICS and co-author of the paper, said: "We believe that radiomics capabilities can help better analyze clinical trials even in very complex situations and hope that it can be applied to everyday clinics as well in the future."
Thomas Graillon, neuro-surgeon at the Hospital La Timone in Marseille, France, and principal author, added: “Mathematical analysis performed by Thierry Colin’s team discriminated various response patterns to targeted therapies for aggressive meningiomas. Complementing the existing 6-month progression free survival method, this research enables new tools for the assessment of meningioma clinical trials and, in particular, the assessment of antitumoral drug activity in meningioma.”
Read the paper here.
On World Cancer Day, we have an opportunity to celebrate the medical advances that have been made in Oncology and how they are enabling patients to access pioneering care. The most significant advances of the last decades were made in the field of personalized medicine.
One of the main promises of the Human Genome Project (HGP) - personalized medicine - originates from pioneering, passionate, genomic research. The study of the changes that occur in the genes of tumor cells has uncovered important insights into the characteristics of tumors. For example, which genes support their functions, growth, sensitivity to treatment - what makes each of them uniquely suited to survive. This information has enabled researchers to conceive targeted therapies; drugs that are designed to pinpoint the uniqueness of each tumor - commonly known as biomarkers. Through the analysis of these biomarkers, healthcare professionals can now refine cancer classifications, staging and prognosis, providing doctors with a novel type of tailored care for their patient.
Non–small cell lung cancer (NSCLC) has become a prominent example of personalized medicine among solid tumor malignancies. Many fields of medicine contributed to forge the novel tools of the medical arsenals and advance NSCLC research. Indeed, the study of various genes involved in lung carcinoma (ALK, RET, MET, ROS1, NTRK, PIK3, AKT, EGFR etc.) was used as a foundation to develop drugs that take advantage of the consequences of their mutations.
In parallel, the demand for molecular testing increased and solutions were developed to help laboratories navigate the abundance of information to assess a tumor’s biomarkers and carefully, prioritize, and report molecular findings.
Since lung carcinomas exhibit strong differences that can be visualized by medical imaging, another ally in the fight against cancer appeared in 2012: Radiomics. This concept can be defined as the comprehensive quantification of tumor phenotypes by applying a large number of quantitative image features. In other terms – images are more than pictures, they are data. Data that can also be measured to assess tumor evolution.
Along with biological data, both radiomics and genomics have become permanent staples of the cancer care toolbox.
What’s next then?
Advanced analytics able to generate insight based on the sum of genomics, radiomics and biological data brings a concept known as multimodality. A limited but rapidly increasing body of literature suggests that, thanks to novel computing capacities, multimodality holds the potential to increase precision in diagnosis, prognosis and treatment decision.
While NSCLC appears to be shifting toward multi-markers, it is likely that exciting innovations will come from multimodal approaches. These approaches could represent transformative progress for patients around the world: discovery of novel biomarkers to develop new therapies, further capacity to match the right treatment to the right patients in clinical trials as well as in routine clinical care, and the ability to follow patients longitudinally through a multimodal approach. This could refine the prediction of disease evolution and consolidate drug development, further personalizing patients’ care.
For more information on how multimodal approaches can advance precision medicine development: click here to book a non-promotional virtual meeting with one of our experts.
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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