The Chile-based Laboratory is using SOPHiA GENETICS’ platform to advance its research capabilities with blood disorders 

BOSTON, US and Rolle, Switzerland, April 2, 2024 – SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company and a leader in data-driven medicine, today announced that Laboratorio Barnafi-Krause is live on the SOPHiA DDM™ Platform. Laboratorio Barnafi-Krause, located in Chile, has implemented SOPHiA GENETICS’ technology to help elevate its testing and analysis of blood cancers and diseases, including Leukemia.

Chronic Lymphocytic Leukemia (CLL) is a complex and critical condition, that accounts for 25–30 percent of all the leukemia in Western Countries, with over 100,000 incidence cases and over 40,000 death cases globally reported in 2019. With the implementation of SOPHiA GENETICS’ technology, Laboratorio Barnafi-Krause is the exclusive laboratory in Chile equipped to conduct next-generation sequencing (NGS) for CLL. 

"We take great pride in being at the forefront of genomic innovation and collaborating with SOPHiA GENETICS to drive progress in the diagnosis of leukemia helps us do just that," said Esteban Barnafi, Production Manager, and Technical Director of Laboratorio Barnafi-Krause. "As the sole laboratory in Chile with access to these specialized panels, we reaffirm our commitment to delivering cutting-edge healthcare solutions to our community, and ultimately aim to reshape the landscape of genomic medicine and improve outcomes for patients in the battle against leukemia.”

This new capability, made possible by SOPHiA GENETICS and its advanced, AI-powered solution, underscores the collaborative initiatives aimed at refining diagnostic approaches and treatment strategies for leukemia patients in Chile.  With the SOPHiA DDM™ Platform, Laboratorio Barnafi-Krause will offer tailored NGS-based workflows that enable accurate and sensitive characterization of the complex mutational landscape associated with blood disorders. SOPHiA DDM™ provides high-quality, reproducible data and streamlined insights on up-to-date gene panels in a matter of days, helping to expedite and advance research and support clinicians in making data-driven recommendations for patients.

“The adoption of our technology from Laboratorio Barnafi-Krause demonstrates its ongoing commitment to progress the use of data-driven medicine throughout Chile and Latin America,” said Ricardo Mendonca Filho, PhD., Managing Director, LAPAC, SOPHiA GENETICS. “The impact of this collaboration transcends geographical boundaries and will not only contribute to the overall healthcare in Chile, but also foster additional global collective intelligence on blood disorders.”

Through the use of the SOPHiA DDM™ Platform, Laboratorio Barnafi-Krause will move forward in its work to reshape the landscape of genomic medicine in Chile and improve outcomes for patients in the battle against leukemia. 

For more information on SOPHiA GENETICS, visit SOPHiAGENETICS.COM, or connect on X, LinkedInFacebook, and Instagram.

About SOPHiA GENETICS 
SOPHiA GENETICS (Nasdaq: SOPH) is a software company dedicated to establishing the practice of data-driven medicine as the standard of care and for life sciences research. It is the creator of the SOPHiA DDM™ Platform, a cloud-native platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM™ Platform and related solutions, products and services are currently used by a broad network of hospital, laboratory, and biopharma institutions globally. For more information, visit SOPHiAGENETICS.COM, or connect on X, LinkedInFacebook, and Instagram. Where others see data, we see answers. 

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. The information in this press release is 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 [email protected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS Forward-Looking Statements: 

This press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding our future results of operations and financial position, business strategy, products, and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our management’s beliefs and assumptions and on information currently available to our management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in our filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of the date hereof. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

Media Contact:
Kelly Katapodis
[email protected] 

Universidad de Costa Rica is live on SOPHiA GENETICS’ technology

Boston, MA and Rolle, Switzerland, March 6, 2024 – SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company in the healthcare space and a leader in data-driven medicine, today announced that Universidad de Costa Rica El Centro de Investigación en Cirugía y Cáncer (CICICA) is now live on the SOPHiA DDM™ Platform. The Surgery and Cancer Research Center is using SOPHiA GENETICS to expand its ability to trace, diagnose, and treat rare and inherited diseases among Costa Ricans.

CICICA was created in December 2021 and is an interdisciplinary and transdisciplinary academic unit dedicated to cancer research, early detection, and diagnosis. CICICA also focuses on developing specialized skills in minimally invasive surgery techniques, clinical and molecular diagnosis, and comprehensive care of patients with cancer. The implementation of the SOPHiA DDM™ Platform has enabled CICICA to expand its genetic services, enabling the increased use of precision-based medicine for rare and inherited diseases.

“As an academic institution, CICICA continuously strives to use the latest advancements in science and technology to further our work,” said Ricardo Chinchilla Monge, Universidad de Costa Rica El Centro de Investigación en Cirugía y Cáncer “The implementation of SOPHiA GENETICS’ technology allows us to offer new services and capabilities that will progress our work in the area of rare and inherited diseases, and benefit the Costa Rican population.”

Rare diseases are estimated to affect roughly 4 percent of the global population; research shows there are roughly 6,000 different rare diseases of which, 72 percent are genetic. The ability to both identify a rare or inherited disease and develop a personalized treatment plan is paramount to providing care for the millions of patients who are impacted by such diseases. 

Next-generation sequencing (NGS) of the human exome (also called whole-exome sequencing) is a reliable and cost-effective way to help detect and identify rare diseases; however, it produces vast and complex genomic data sets. The SOPHiA DDM™ Platform uses Artificial Intelligence (AI) and machine learning with patented technologies to analyze and interpret raw NGS data, providing fast and accurate results to clinician researchers. 

“We are passionate at SOPHiA GENETICS about helping people across the globe benefit from precision medicine, and this is made possible through cutting-edge, AI-based solutions and technologies like the SOPHiA DDM™ Platform,” said Ricardo Mendonca Filho, PhD., Managing Director, LAPAC, SOPHiA GENETICS. “We are proud to be working with CICICA to help expand its offerings and advance its research of the rare diseases that are affecting the Costa Rican population.” 

The SOPHiA DDM™ Platform is designed to compute a wide array of genomic variants and continually hone machine learning algorithms to detect rare and challenging cases. With SOPHiA GENETICS’ sophisticated technology, CICICA will deepen its in-house knowledge, making it faster to identify and categorize these diseases. 

For more information on SOPHiA GENETICS, visit SOPHiAGENETICS.COM, or connect on XLinkedIn,Facebook, and Instagram.

About SOPHiA GENETICS 
SOPHiA GENETICS (Nasdaq: SOPH) is a software company dedicated to establishing the practice of data-driven medicine as the standard of care for life sciences research. It is the creator of the SOPHiA DDM™ Platform, a cloud-native platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM™ Platform and related solutions, products and services are currently used by a broad network of hospital, laboratory, and biopharma institutions globally. For more information, visit SOPHiAGENETICS.COM, or connect on XLinkedIn,Facebook, and Instagram. Where others see data, we see answers. 

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. The information in this press release is 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 [email protected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS Forward-Looking Statements: 

This press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding our future results of operations and financial position, business strategy, products, and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our management’s beliefs and assumptions and on information currently available to our management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in our filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of the date hereof. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

Media Contact:
Kelly Katapodis
[email protected] 

The company announced Bioma4me has implemented SOPHiA DDM™ to support its rare disorder testing capabilities

Boston, MA and Rolle, Switzerland, January 25, 2024 – SOPHiA GENETICS (Nasdaq: SOPH), a cloud-native software company in the healthcare space and a leader in data-driven medicine, today announced that Bioma4me, a Brazil-based company focused on genetic sequencing to drive precision medicine to the Brazilian population, is now live on the SOPHiA DDM™ Platform. The company will use SOPHiA GENETICS’ technology to advance and streamline its genetic testing capabilities. 

Bioma4me is a leader in Brazil in providing personalized medicine, supported by genetic analysis of each individual, offered at an affordable cost, with great precision and in the shortest possible time. 

"We are thrilled to announce our collaboration with SOPHiA GENETICS, a leader in AI to further precision medicine. This partnership marks a significant milestone in the journey of scientific discovery and innovation for Bioma4me,” said Rafael Malagoli Rocha, PhD, Sócio Diretor, Bioma4me.  “This collaboration is a fusion of expertise in order to drive forward the frontiers of human genetics and metagenomics in Latin America. Bioma4me is committed to unlocking new possibilities and advancing the field of oncology, microbiome, and genetic diseases in general, bringing hope and answers to our community. We celebrate this partnership as a testament to what can be achieved in the novelties in data-driven medicine."

Through the SOPHiA DDM™ Platform, Bioma4me will be able to apply its next generation sequencing (NGS) expertise to the whole exome. The SOPHiA DDM™ Platform will help the company streamline and expedite data analysis, which will save valuable time for clinical researchers and support the enablement of precision medicine for customers.

“We believe in advancing the use of precision medicine globally, supporting researchers and clinicians with our AI-based SOPHiA DDMô Platform to help advance cancer research and provide better health outcomes worldwide,” said Ricardo Mendonca Filho, PhD., Managing Director, LAPAC, SOPHiA GENETICS. “By using our platform, Bioma4me will be able to enhance and expedite its testing capabilities to deliver a comprehensive panel for its customers.”

The SOPHiA DDM™ Platform will enable Bioma4me fast turnaround time for results. Additionally, Bioma4me will have full ownership over its data and access to the SOPHiA GENETICS decentralized global network, helping to continuously advance its researchers' capabilities and knowledge base. 

For more information on SOPHiA GENETICS, visit SOPHiAGENETICS.COM, or connect on XLinkedIn,Facebook, and Instagram.

About SOPHiA GENETICS 
SOPHiA GENETICS (Nasdaq: SOPH) is a software company dedicated to establishing the practice of data-driven medicine as the standard of care for life sciences research. It is the creator of the SOPHiA DDM™ Platform, a cloud-native platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM™ Platform and related solutions, products and services are currently used by a broad network of hospital, laboratory, and biopharma institutions globally. For more information, visit SOPHiAGENETICS.COM, or connect on XLinkedIn,Facebook, and Instagram. Where others see data, we see answers. 

SOPHiA GENETICS products are for Research Use Only and not for use in diagnostic procedures unless specified otherwise. The information in this press release is 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 [email protected] to obtain the appropriate product information for your country of residence.

SOPHiA GENETICS Forward-Looking Statements: 

This press release contains statements that constitute forward-looking statements. All statements other than statements of historical facts contained in this press release, including statements regarding our future results of operations and financial position, business strategy, products, and technology, as well as plans and objectives of management for future operations, are forward-looking statements. Forward-looking statements are based on our management’s beliefs and assumptions and on information currently available to our management. Such statements are subject to risks and uncertainties, and actual results may differ materially from those expressed or implied in the forward-looking statements due to various factors, including those described in our filings with the U.S. Securities and Exchange Commission. No assurance can be given that such future results will be achieved. Such forward-looking statements contained in this press release speak only as of the date hereof. We expressly disclaim any obligation or undertaking to update these forward-looking statements contained in this press release to reflect any change in our expectations or any change in events, conditions, or circumstances on which such statements are based, unless required to do so by applicable law. No representations or warranties (expressed or implied) are made about the accuracy of any such forward-looking statements.

Media Contact:
Kelly Katapodis
[email protected] 

Highly accurate HRD detection offers affordable and easily implementable solutions, opening new doors for healthcare

São Paulo, Brazil and Boston, MA – August 24, 2021 - Dasa, the largest integrated healthcare network in Brazil, has chosen to expand upon its partnership with SOPHiA GENETICS SA (Nasdaq: SOPH) to offer the first decentralized HRD (Homologous recombination deficiency) analytics solution in Latin America. HRD is a complex biomarker, important for PARP inhibitors, that helps identify whether cancer patients may respond better to specific treatments, and its use could ultimately lead to personalized therapies that benefit the individual patient.

Renowned in Brazil and abroad, Dasa serves more than 20 million patients per year – including approximately 10% of the Brazilian population - through its more than 250,000 medical partners comprised of more than 59 diagnostic medicine brands and hospitals. With the help of the knowledge pooling SOPHiA DDM ™ platform, Dasa has drawn further insights upon the many complex molecular datasets that they analyze for the benefit of their patients.

Today’s announcement further builds on the partnership that began between the two companies in 2016, when Dasa chose SOPHiA GENETICS to build the original workflow for its genomics lab. This partnership further evolved when Dasa implemented SOPHiA DDM ™ Radiomics and Trial Match solutions in 2020 to create the first multimodal approach in the region. For half a decade, the two companies have pioneered new ways to enable scalability and high output screening on complex assays, shortening the path from research to consumer applications and more.

“SOPHiA GENETICS’ decentralized approach gives us automated and reproducible results in-house. Their expert bioinformatics team got us up and running on our own, helping us save considerable time, gain efficiency, and offer a more affordable solution for patients,” said Gustavo Riedel, Business Director for Genomics and LATAM Clinical Research at Dasa.

“Dasa initially wanted to be able to track the entire diagnostic journey for their cancer patients. With such a large regional network, this is a task that’s not unlike navigating an ocean of data through a hurricane. Through our past collaborations – and now the addition of our decentralized HRD solution - SOPHiA GENETICS is able to act as the lighthouse that guides Dasa through the storm as they make new discoveries, helping both short and long-term patient care,” said Jurgi Camblong, Co-founder and CEO of SOPHiA GENETICS.

To learn more about how SOPHiA GENETICS data-driven insights are improving diagnosis, treatment and drug development for patients and the larger medical community, visit sophiagenetics.com.

About SOPHiA GENETICS:

SOPHiA GENETICS is a healthcare technology company dedicated to establishing the practice of data-driven medicine as the standard of care and for life sciences research. It is the creator of the SOPHiA DDM™ Platform, a cloud-based SaaS platform capable of analyzing data and generating insights from complex multimodal data sets and different diagnostic modalities. The SOPHiA DDM™ Platform and related solutions, products and services are currently used by more than 780 hospital, laboratory, and biopharma institutions globally.

More info: SOPHiAGENETICS.COM; follow @SOPHiAGENETICS on Twitter.

About Dasa:

Dasa is the largest integrated healthcare network in Brazil, serving more than 20 million people a year, with high technology, intuitive experience and an attitude ahead of time. With more than 40 thousand employees and 250 thousand partner doctors, Dasa is the healthcare solution that people want and that the world needs, being present at every stage of care.

Dasa believes that in order to take care, it is always necessary to take care fully. Therefore, it looks at health management in a preventive, predictive and personalized way. It integrates diagnostic medicine, hospitals, genomics, oncology, care coordination, emergency care, telemedicine, clinical research and science. In all, it has 15 reference hospitals (considering its own network, inorganic growth and deals that are still under regulatory approval), and more than 59 brands including diagnostic medicine and hospitals, distributed in more than 900 units in Brazil.

Dasa guarantees agile, uncomplicated and friction-free navigation of the health journey, for both patients and physicians through its management platform, Nav. In addition, it offers integrated and innovative corporate health solutions through Dasa Empresas. We are Dasa and we are for life. For more information, access: www.dasa.com.br.

São Paulo, Brazil, July 23, 2020:

SOPHiA GENETICS, leader in Data-Driven Medicine, announced today the signature of a Trial Match agreement with Dasa, the largest medical diagnostic company in Latin America. The group chose the SOPHiA Platform to lead the region toward an extensive approach to Data-Driven Medicine powered by the world’s first integrated multimodal solution to fight cancer.

Thanks to a huge community of more than 1’000 partner institutions globally - with almost 100 in Latin America - SOPHiA GENETICS is uniquely positioned to offer new solutions for clinical trials. Through SOPHiA Trial Match, the company will help Dasa facilitate and accelerate the process of biomarker-defined patient recruitment for clinical trials, especially when eligibility criteria include the presence of rare genetic variants. Dasa’s newly integrated network of hospitals, Ímpar, will directly benefit from SOPHiA Trial Match, being able to engage with peers, sharing knowledge, and collaborating with other experts of the SOPHiA global network.

Dasa already adopted the SOPHiA Platform for accurate analysis of genomic profiles back in 2016 through their genomic laboratory GeneOne to detect hereditary and hematologic disorders. Today, with the help of SOPHiA, the number of genomic analyses Dasa performs grows exponentially, including applications in various areas of oncology.

In addition, SOPHiA is also empowering Dasa’s experts with radiomics capabilities, which will allow radiologists and oncologists to make more data-driven informed decisions and enable individualized longitudinal follow-up of patients throughout their disease evolution. SOPHiA’s multimodal solution – including genomics, radiomics, and now the SOPHiA Trial Match - will allow the pharmaceutical industry to explore biomarker identification for cancer.

 “The adoption of SOPHiA Trial Match in the region demonstrates once again Dasa’s commitment to help cancer patients with the most advanced technologies currently available on the market,” said Philippe Menu, Chief Medical Officer at SOPHiA GENETICS. “It will allow us to transform the way we can match patients to the right clinical trial and predict who will benefit the most from targeted therapies and why, revolutionizing drug development, and ultimately leading healthcare toward a new era of democratized Data-Driven Medicine.”

“SOPHiA has become our partner of choice for Data-Driven Medicine as we help deliver transformative progress for patients thanks to the multimodal data approach here in Latin America, first by integrating radiomics and now clinical trials” commented Gustavo Campana, Medical Director of Dasa. “Engaging in Trial Match will help clinicians from Dasa understand better how to follow up, treat and orientate patients towards a more personalized medicine”.

São Paulo, 4th July 2018: SOPHiA GENETICS, global leader in Data-Driven Medicine, today announced that the company has welcomed three new leading healthcare institutions, ten in total, from across the country who have adopted SOPHiA AI, the universal technology for clinical genomics analysis.

SOPHiA GENETICS is making a meaningful contribution, supporting and accelerating the adoption of clinical genomic testing in Brazil. The company’s solutions are answering healthcare institutions’ Data-Driven Medicine needs for a direct benefit to patients.

Brazilian institutions use the company’s AI technology to detect and characterize all type of disease-causing genomic alterations. This valuable information helps them better and faster diagnose their patients suffering from hereditary diseases and cancers.

As explained by Dra. Dirce Carraro, Head of the Genomics and Molecular Biology Laboratory at AC Camargo Cancer Center: “The Hereditary Cancer Solution by SOPHiA GENETICS has shown excellent reproducible results for the detection of very complex to find alterations such as SNVs, Indels and CNVs giving us the possibility to streamline the analysis quickly into our routine testing”

GeneOne is a genomics laboratory that is part of the DASA group, Latin America's largest diagnostic medicine company. Gustavo Campana, Medical Director of Clinical Analysis at DASA revealed the following:“After working with SOPHiA’s analytical technology for more than 2 years, moving towards a customized application was a natural choice for us. We truly believe SOPHiA GENETICS will become a long-lasting partner in the growth and establishment of GeneOne at the forefront of genomic testing in Brazil and Latin America”

Hospital de Amor, previously known as the Hospital de Cancer de Barretos, is a philanthropic hospital specialized in diagnosis and treatment for cancer’s patients. Their Oncogenetic unit quickly understood the power of SOPHiA AI: “Working with SOPHiA GENETICS was a logical next step for us to streamline our clinical genomic analysis processes. While our demand in Next-Generation Sequencing (NGS) both research and diagnostic continue to grow, we needed a centralized and powerful technology to analyze quickly and precisely the large amount of data. The high analytical performance, its interpretation capabilities, and the support provided has been key in our decision to adopt SOPHiA AI and join the world’s largest community in Data-Driven Medicine.” Dra. Edenir Palmero – Manager Oncogenetics Lab

In addition of SOPHiA’s rapid adoption in the Brazilian healthcare space, SOPHiA GENETICS is proud to announce that the company has recently been selected to be part of the 2018 TechEmerge Project organized by the IFC (World Bank Group) in Brazil. Participants have been given the opportunity to meet with selected healthcare providers to build innovative pilot projects in order to further accelerate the adoption of their technologies.

“Since inception, our vision has been to develop innovative technological solutions to help patients, equally wherever they live. SOPHiA acts as a real disruptor by breaking down the information silos in healthcare, meaning that the information from a patient in Paris can for instance help better diagnose and treat a patient in Rio de Janeiro.” – Dr. Jurgi Camblong, CEO and Co-Founder of SOPHiA GENETICS

Mexico City, 11th October 2017: SOPHiA GENETICS, global leader in Data-Driven Medicine, today announced that six leading healthcare institutions from across Mexico have joined the company’s community by adopting SOPHiA artificial intelligence, which provides affordable, reliable and more effective clinical genomics solutions for cancer and congenital disorders.

Mexico has a long history in human genetics, and was one of the early adopters of genomics research in the region. While Next-Generation DNA Sequencing (NGS) testing capabilities have been established persisting challenges include the analysis of the complex data that they generate, and making this technology easily and equally accessible across the country. This is how SOPHiA GENETICS is making a meaningful contribution, supporting and accelerating the adoption of genomics testing in Mexico. The company’s solutions are tailored to the individual needs of hospitals or laboratories regardless of whether they have NGS testing capabilities or not.

By adopting SOPHiA artificial intelligence for their clinical genomics analysis, these Mexican institutions (listed below) join the world’s largest clinical genomics community. Through the company’s Software-as-a-Service platform, SOPHiA DDM, clinicians are connected to a network of over 360 hospitals across 55 countries. The platform enables clinicians and researchers to make sense of genomics data to better and faster diagnose and treat patients.

“Since inception, our vision has been to develop innovative technological solutions to help patients, equally wherever they live. SOPHiA acts as a real disruptor by breaking down the information silos in healthcare, meaning that the information from a patient in London can for instance help better diagnose and treat a patient in Mexico City.” 
– Dr. Jurgi Camblong, CEO and Co-Founder of SOPHiA GENETICS

The following Mexican healthcare institutions have recently committed to using SOPHiA AI:

Below are two example from the list above that illustrate how SOPHiA GENETICS supports its new partners in Mexico:

Servicios Genomicos
 :

“SOPHiA is the most advanced technology for clinical genomics available. We can now confidently detect genomic alterations related to myeloid malignancies and rare congenital disorders. With these solutions, we expect to provide better guidance towards individualized treatments through consistent high quality and reliable data.”
– Dra. Alaez, director del Laboratorio de Servicios Genómicos

The National Institute of Respiratory Diseases & its Research Center for Infectious Diseases
 (INER - CIENI)

“For us the fact that SOPHiA GENETICS provides a fast and reliable solution that guarantees clinical grade standards for NGS was key in our decision to work with them. Our collaborating will significantly accelerate our turnaround time for genomic analysis.” - Dr. Santiago Ávila, investigador en Ciencias Médicas, CIENI, INER

LAUSANNE, Switzerland, 13 February 2016 – Sophia Genetics, global leader in Data-Driven Medicine, announced today that ten new genomic institutions from Latin America have started using SOPHiA - the company’s AI - to democratize access to clinical genomics on the continent, and improve patient diagnosis and care.

Using the Sophia DDM® advanced SaaS analytics platform for clinical genomics, the institutions will first deploy SOPHiA for hereditary cancer diagnosis. About 1.1 million new cancer cases and 600,000 cancer deaths are estimated to occur annually in Latin America and the Caribbean[1]. Hereditary cancer predisposition syndromes comprise approximately 10% of diagnosed cancers but familial forms are believed to account for up to 30% of some cancers. In the Hispanic population, the most commonly diagnosed hereditary cancers include colorectal cancer syndromes, such as Lynch Syndrome, Familial Adenomatous Polyposis, and hereditary breast and ovarian cancers, which can all be diagnosed using SOPHiA.

In this context, SOPHiA will help leverage genomic data to improve and accelerate patient diagnosis and care. The increased use of SOPHiA in Latin America will also ensure that the highest standard of genomic testing is provided to all patients in need, and that they have access to the latest advances in the detection of hereditary cancers. Following a first partnership announced in October 2016 with DASA, the largest medical diagnostic company in Latin America, SOPHiA has been rapidly adopted in the region for its superiority and ease of use to obtain actionable insights from genomic data and improve patient care.

Latest genomic institutions to adopt SOPHiA in Latin America:

·       In Mexico, Servicios Genomicos, a spinoff from INMEGEN (Mexico’s National Genomic Medicine Institute), a predominant actor in clinical genomics, will use SOPHiA to better diagnose hereditary cancer predispositions, develop preventive medicine and design treatments tailored to patient’s genetic makeup. Dr. Carmen Aláez Versón, Chief of the Genomic Diagnosis Laboratory at Servicios Genomicos commented “Sophia Genetics first helped us quickly overcome the burden and complexity of a complete validation program to obtain consistently reliable top quality data. We then saw in Sophia DDM®'s friendly interface, a decisive tool in optimizing the data analysis and interpretation of our growing patient database.”

·       In Colombia, SOPHiA will be used by GenCell Pharma, a national pioneer in molecular diagnostics, to offer genomic profiling to patients at risk of hereditary cancers. Andres Zapata, Director of GenCell commented: “Offering the best in class diagnostic grade sequencing reports to our patients from Colombia and LATAM is our goal at GenCell. Through Sophia Genetics we saw the best partner to efficiently and confidently implement such technology. The access to data pooling information from the community through Sophia DDM® analytical platform is crucial to help us better diagnose patients.”

·       In UruguayGenia is one of the major regional actors in clinical genomics. They will use SOPHiA to analyse the genetic makeup of patients from the five countries of the Southern Cone, and produce the relevant diagnoses. Juan Martín Marqués scientific director at Genia commented: “Thanks to the superior results obtained by SOPHiA on previously hard to find genetic alterations for BRCA1/2 and the easiness to detect all these variants in one complete simple workflow, we have decided to implement Sophia DDM® in routine for all of our samples.”

SOPHiA is currently used by 240 healthcare institutions from 39 countries. In Latin America the AI will gradually be deployed further in oncology, metabolism, paediatrics and cardiology. Thanks to its Sophia DDM® platform which scales the world-class expertise of its clinical genomics community and provides online secure access to genomic analysis, Sophia Genetics allows any institution, no matter their experience in Next Generation Sequencing, to embrace the advances of the genomic revolution, ensuring no patient misses out.
Jurgi Camblong, CEO and co-founder of Sophia Genetics commented: “By continuing to deploy SOPHiA globally we are democratizing access to the world’s most advanced technology for clinical genomics. In Latin America, SOPHiA will help speed up diagnosis and treatment, and provide the highest standard of genomic testing to all patients in need.”


[1] The Cancer Atlas, 2017

LAUSANNE, Switzerland – 11 October 2016 – Sophia Genetics, the global leader in Data Driven Medicine (DDM), announced today that it has entered Latin America as the DASA network of laboratories in LatAm is adopting the company advanced analytical platform Sophia DDM® to facilitate and accelerate patients’ diagnosis, and the selection of appropriate treatments by clinicians. Under the agreement, SOPHiA, Sophia Genetics’ artificial intelligence, will analyse patients’ genomic profiles produced in DASA laboratories to spot pathogenic genetic variants responsible for diseases, and help advise clinicians on best care.

By gaining access to SOPHiA, LatAm clinicians working with DASA will directly benefit from a technology helping them to provide better and faster diagnostics to their patients. They will also have the tools to recommend the most appropriate treatment plans, based on the results of their patients’ genomic tests. As an initial step, DASA will entrust Sophia Genetics with all its so-called “BRCA” and “CFTR” tests, which are genomic tests performed to identify respectively genetic variants in breast cancer susceptibility genes, and related to cystic fibrosis.

DASA - Diagnosticos da America - is the largest medical diagnostic company in Latin America, 5th largest in the world, with 321 branches across Brazil catering for 55,000 patients daily and processing more than 10 million tests each month. It is CAP (College of American Pathologists) certified laboratory and provides more than 3000 types of clinical analyses and diagnostic imaging. Its network accounts more than 500 sample collection service units and 12 central laboratories across Brazil, where analyses are conducted for the LatAm continent. The agreement announced today means that the thousands of patients relying on DASA solutions to be diagnosed through their clinicians will now benefit from better and faster screening of their genomic profiles for pathogenic genetic variants.

Commenting on the importance of SOPHiA availability in LatAm, Pr Eduardo Levi, Consultor em Biologia Molecular, at DASA said “Partnering with Sophia Genetics came as a natural choice as we were looking to strengthen our solutions for molecular diagnostics on the continent. Based on the company success in other regions, and across the 180 members of its clinical genomic community, we knew it would be the best fit for our “BRCA” and “CFTR” tests. We are very happy that LatAm and LatAm patients are now able to join the Data-Driven medicine revolution thanks to Sophia Genetics.”

Sophia Genetics’ CEO and co-founder Jurgi Camblong added “Since its inception, Sophia Genetics’ mission has been to provide patients with access to Data Driven Medicine. With today’s agreement, we are doing just that as a whole new continent will now benefit from better and faster identification of genetic variants responsible for diseases. Moving forward, we will continue to expand our presence worldwide so that more clinicians can use our solutions and more patients can benefit from it. On our journey towards global democratisation of Data Driven Medicine we will also continue to broader our genomics community for molecular diagnostics as more hospitals and laboratories will use our artificial intelligence for molecular diagnosis solutions.”

Sophia Genetics’ clinical genomics community now spans across 31 countries worldwide and gathers 180 healthcare institutions, performing over 5’000 patients’ genomics profile analysis every month.

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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