• The Homologous Recombination Deficiency (HRD) biomarker identifies ovarian cancer patients likely to respond to PARP inhibitors.  
• SeqOne’s test simplifies the deployment of this test while reducing the number of inconclusive results, even when biopsies have low tumoral content.  
• Test accuracy was validated with the PAOLA-1 reference cohort and is presented at ESMO-GYNAE Barcelona on the 24th of February, 2023

Barcelona, Montpellier – February 22nd 2023:  SeqOne, the provider of new-generation genomic analysis solutions for personalized medicine, is announcing at the ESMO GYNAE conference a new HRD test that renders Homologous Recombination Deficiency (HRD) testing more accessible to Ovarian cancer patients. HRD status is key in the prescription of PARP inhibitor Olaparib, which improves survival of HRD-positive patients.

SeqOne’s approach simplifies the deployment of this test so that it can be performed by any well-equipped lab. To do this, SeqOne has based its test on a combination of two easily performed genomic analyses, a targeted gene panel and a low-pass whole genome, that together give excellent results when compared with reference tests.  The test has also been validated on multiple sequencers and reagents.  These results were clinically validated through a retrospective analysis of the PAOLA-1 cohort that was initially used to demonstrate the efficacy of Olaparib for HRD-positive patients. The cohort remains the gold standard for clinically validating all subsequent HRD tests. 

Another key focus was to ensure that actionable results could be obtained even with biopsies of low sample quality (low tumoral content),  as this has proved to be a major obstacle to delivering usable results in clinical routine environments.  SeqOne was able to deliver actionable HRD scores using samples of lower quality than most other tests; as little as 20% of cellularity and 50 nanograms of genetic material.  

“One of ARCAGY-GINECO ’s missions is to allow the validation of HRD testing through clinical evaluation on the PAOLA-1 cohort and to offer the medical professionals a reliable and objective assessment of test performance “. Said Pr. Pujade Lauraine, Medical Director of ARCAGY-GINECO. “SeqOne approached us early on in order to validate their test and have delivered a solution that is easy to implement and delivers great performance. I am glad that the clinical evaluation of their test is being presented today by my colleague Romain Boidot at ESMO GYNAE in Barcelona.”.

“Our objective was to deliver an easy-to-use test that would work even with samples of low tumoral content while affording medical professionals the assurance of test quality through a recognized certification process” said Nicolas Philippe, CEO of SeqOne.  “I am proud that we have delivered on this objective”.

“As a user of SeqOne’s solution,  we are pleased with the ease of use, accuracy and its tolerance to samples of low-tumoral content” said Marie-Pierre Wissler, a pathologist working at Cypath.  “It means we can return an HRD status more often than we could with previous vendors while at the same time reducing turnaround time.”

Clinical evaluation of SeqOne HRD is presented at ESMO GYNAE, in Barcelona on Feb 24th, 2023, by Romain Boidot, molecular biologist at the Centre Régional de Lutte contre le Cancer Georges François Leclerc (CGFL) Dijon

The SeqOne HRD score was validated using a retrospective analysis of 364 ovarian cancer patients from the PAOLA-1 phase 3 clinical trial. There is the same survival benefit for HRD+ patients when being treated with olaparib plus bevacizumab compared to bevacizumab alone, regardless of whether SeqOne HRD or Myriad myChoice® CDx test was used to form the HRD subgroup. In addition, SeqOne HRD has a smaller rate of inconclusive results compared to the inconclusive rate obtained with Myriad myChoice® CDx. Additional analyses to evaluate the HRD biomarker have been conducted: (i) a replication analysis on 48 individuals to test the reproducibility of the BRCA variant calling approach and (ii) a comparison of HRD testing using either NovaSeq and NextSeq sequencers to perform sWGS. Both analyses confirm the robustness of the SeqOne test.

– ENDS –

About SeqOne Genomics
SeqOne Genomics specializes in high-performance genomic analysis solutions for use in healthcare and life science –  hospitals, research institutions, and pharmaceutical companies -. SeqOne’s mission is to make genomic analysis more accessible and effective, in order to improve treatments for patients suffering from cancer, rare and hereditary diseases as well as pharmaceutical companies developing new therapies. 

SeqOne’s platform supports both short-read and long-read nanopore sequencing and leverages advanced machine learning coupled with the company’s proprietary genomics operating system to dramatically reduce turnaround times and costs while delivering comprehensive and actionable insights for personalized medicine.  https://www.seqone.com/

SeqOne media contacts
– Annie-Florence Loyer – afloyer@newcap.fr / +33 (6) 88 20 35 59
– Jean-Marc Holder – jm.holder@seqone.com / +33 (6) 03 24 57 56

About Cypath
CYPATH is an independent medical practice bringing together 75 private doctors specialized in Pathological Anatomy and Cytology, associated in SELAS (private practice company by simplified action) grouped on thirteen sites located in Auvergne-Rhône-Alpes, Bourgogne-Franche-Comté and Grand-Est. The group collaborates with nearly 90 healthcare institutions and many private practices, general or specialized (Dermatology, Radiology, Gynecology, Midwives …). https://www.cypath.fr/

About ARCAGY
ARCAGY (Association de Recherche sur les CAncers dont GYnécologiques) is a French nonprofit organization that conducts clinical research on gynecologic cancers. The organization’s mission is to stimulate research on gynecologic cancers, as well as to provide support and information to patients and their families.

ARCAGY-GINECO” is a group of clinicians and medical sites in France focused on clinical research to fight gynecological cancers, including ovarian, endometrial, and cervical cancers. It is dedicated to promoting research, innovation, and clinical trials in the field of gynecological oncology, and to improving the care and treatment of patients with these types of cancers. For more information: https://www.arcagy.org/

Montpellier, February 9^th, 2023:  SeqOne today announced the results of a long-standing research collaboration with Pr. Laurent Mesnard, Co-Director of the French National center for Thrombotic MicroAngiopathies (CNR-MAT), aimed at improving the diagnosis and management of patients suspected of suffering from thrombotic microangiopathies and atypical Hemolytic syndrome (aHUS).  The program involved using Oxford Nanopore’s revolutionary technology to sequence patients at the bedside, dramatically reducing turnaround times to obtaining actionable insights.  Patients were sequenced using Oxford Nanopore’s adaptive sampling option that makes it possible to target the parts of the genome of interesr for thrombotic microangiopathies (TMAs) and modify the read-depth to explore in detail the regions that contain complex mutations that are hard to detect using standard methods.  This Oxford Nanopore-based analysis was compared with traditional short read sequencing approaches in order to establish a benchmark against current standards of care and hence quantify benefits of nanopore sequencing.  So far, the program, has analyzed 15 patients demonstrating the potential of the approach and highlighting the following benefits when compared with short-read sequencing;

• Significantly faster turnaround times of under three days from sample collection to clinical report versus 3-4 week turnaround using outsourced short read sequencing
• Reliable detection of complex variants such as those affecting alternative complement pathways that are often duplicated
• Detection of certain types of variants, notably CFH:CFHR1 hybrid gene mutations that cannot be detected using traditional short-read technology
• A clear indication of those patients who will respond to one of the drugs that have proven effective in treating this disease; vitamin B12 in Cobalamin III deficiency or Eculizumab in case of complement alternate pathway dysregulation associated aHUS. 

TMAs, such as aHUS, are rare diseases primarily affecting the kidney.  They are hard to diagnose using traditional methods as they present as a number of nonspecific symptoms, such as severe hypertension, acute kidney injury/failure in the context of mechanical anemia and thrombocytopenia. TMAs lesions can be associated with many diseases and some genetic disorders linked to aHUS. Molecular diagnoses, in particular in genes associated with alternative complement pathway regulation, make it possible to identify patients that suffer from this condition as well as informing on possible therapeutic options for TMA/aHUS.  

“It is clear that a cost effective, rapid technology that can sequence long fragments of DNA, such as those provided by Oxford Nanopore and a robust interpretation solution such as SeqOne are necessary to extract the full potential of third generation sequencing technology in nephrology and aHUS” said Pr. Laurent Mesnard, the PI heading the study. 

In order to support the program, SeqOne implemented an Oxford Nanopore compatible long-read support capable of managing adaptive sampling data.  SeqOne is a CE-IVD compliant platform that simplifies the analysis and interpretation of the data enabling the rapid interpretation of patient files which in turn maximizes efficiencies and enables management of higher caseloads.

“SeqOne is convinced both of the clinical potential of Oxford Nanopore’s technology as well as the benefits of bedside sequencing enabled by Oxford Nanopore’s hyper-cost-effective sequencing solutions” said Nicolas Philippe, CEO of SeqOne.  “We are investing heavily to provide the best interpretation solution for the data provided in support of this exciting initiative”. 

“We are delighted to be part of this research project and to see the potential of nanopore sequencing in nephrology and TMA/aHUS. The technology offers the chance to improve outcomes with significantly faster turnaround times and the ability to identify complex variants.” Commented Dr Emma Stanton, VP Clinical, Oxford Nanopore Technologies.

On the basis of this successful program, SeqOne and CNR-MAT now plan to extend its investigation of the use of nanopore sequencing technology to qualify further patients eligible to actionable (Vitamin B12, Eculizumab) therapy as well as to investigate the impact of other variant types in patient prognosis during TMA/aHUS. 

– Ends –

About SeqOne Genomics

SeqOne Genomics offers high-performance genomic analysis solutions for healthcare providers treating patients suffering from cancer, rare and hereditary diseases as well as pharmaceutical companies developing new therapies. The solution supports both short read and long-read nanopore sequencing and leverages advanced machine learning coupled with the company’s proprietary genomics operating system to dramatically reduce turnaround times and costs while delivering comprehensive and actionable insights for personalized medicine. The company has won numerous awards including the iLab award and the ARC cancer foundation’s Hélène Stark prize. Investors include Elaia, IRDI Capital Investissement, Merieux Equity Partners, Omnes and Software Club.

Web: https://seqone.com

SeqOne Contacts:

• Annie-Florence Loyer – afloyer@newcap.fr / +33 6 88 20 3559
• Jean-Marc Holder – jm.holder@seqone.com / + 33 6 03 24 5756

About the French Thrombotic Microangiopathies National reference centre (CNR-MAT)

The Thrombotic Microangiopathies National reference centre (CNR-MAT) is a research network focused on the study of thrombotic microangiopathies (MAT) and associated rare diseases. It was recognized 2006 as a national reference center for France under the stewardship of Paul Coppo (Hematology department, Saint-Antoine Hospital and Sorbonne-University) in Paris. The missions of the CNR-MAT are to promote clinical and basic research in the field of thrombotic microangiopathies through innovative medical approaches, as well as to inform practitioners, patients and all actors involved in the management of these diseases. The CNR-MAT coordinates the healthcare establishments treating patients suffering from these pathologies in France.

Web: https://www.cnr-mat.fr

CNR-MAT Contact:

• Raida Bouzid Saadaoui – raida.bouzid-saadaoui@aphp.fr

About Oxford Nanopore Technologies

Oxford Nanopore Technologies’ goal is to bring the widest benefits to society through enabling the analysis of anything, by anyone, anywhere. The company has developed a new generation of nanopore-based sensing technology for real-time, high-performance, accessible and scalable analysis of DNA and RNA. The technology is used in more than 120 countries to understand the biology of humans and diseases such as cancer, plants, animals, bacteria, viruses and whole environments. Oxford Nanopore Technologies products are intended for molecular biology applications and are not intended for diagnostic purposes. https://www.nanopore.com

Oxford Nanopore Technologies contact: media@nanoporetech.com 

Forward-looking statements 
This announcement contains certain forward-looking statements. Phrases such as “potential”, “expect”, “intend”, “believe we can”, “working to”, “anticipate”, “when validated”, and similar expressions of a future or forward-looking nature should also be considered forward-looking statements. Forward-looking statements address our expected future business, and by definition address matters that are, to different degrees, uncertain and may involve factors beyond our control.

Renowned specialist in healthcare data science, he will focus on developing A.I. driven genomic analysis solutions to facilitate personalised medicine in oncology and rare diseases

Montpellier, October 20, 2022 – SeqOne Genomics, today announced that Michael Blum, Ph.D. is joining the company to lead its research and development department. He is tasked with driving SeqOne’s R&D strategy notably in the area of rare diseases and oncology through the use of machine learning and data science.

Michael started his career as a biostatistician and bioinformatician at the CNRS where he developed software solutions that enabled complex genomic data analysis for biologists and clinicians. He then set up the Grenoble Data Institute, a cross-disciplinary research group, to study how digital technology and data could be harnessed to benefit science and society. In 2019, he joined Owkin where, for the past three years, he has developed AI-based solutions to optimize clinical trials.

At SeqOne, Michael will lead scientific research and the development of new genomic analysis solutions to improve the clinical interpretation and diagnosis of cancer and hereditary diseases. Michael Blum has co-authored over 50 scientific publications, many of which are the fruit of international collaborations in the fields of population genomics and genomic medicine.

Michael holds an engineering degree from Grenoble INP, a PhD in applied mathematics, and completed a post-doctorate in bioinformatics at the University of Michigan.

“SeqOne has developed an impressive set of ground-breaking technologies built on hard science”, said Michael Blum. “We share the same vision that aims to advance personalised medicine by creating a tight interaction between technology and medicine. I am honoured to be part of SeqOne’s management team, leading research initiatives to develop ever more effective diagnostic solutions that will accelerate access to personalized medicine for all patients.”

“Our whole team is delighted that Michael is joining us”, commented Nicolas Philippe, CEO and co-founder of SeqOne Genomics. “His vast expertise in data science and biology represents an extraordinary asset for the development of our international program to develop clinical genomic analysis solutions. His commitment to advancing and spreading knowledge will help extend our leadership among the key players in personalized genomic medicine.”

About SeqOne Genomics: 

SeqOne Genomics offers high-performance genomic analysis solutions for healthcare providers treating patients suffering from cancer, rare and hereditary diseases as well as pharmaceutical companies developing new therapies. The solution leverages advanced machine learning coupled with the company’s proprietary genomics operating system to dramatically reduce turnaround times and costs while delivering comprehensive and actionable insights for personalized medicine. The company has won numerous awards including the iLab award and the ARC cancer foundation’s Hélène Stark prize. Investors include Elaia, IRDI Capital Investissement, Merieux Equity Partners, Omnes and Software Club. More information at: https://seqone.com

SeqOne Genomics media relations:  

• Annie-Florence Loyer – afloyer@newcap.fr / +33 (6) 88 20 35 59
• Juliette Milleret – jmilleret@newcap.fr /+33 (6) 98 50 21 93