Cartagenia | Date: 2017-01-18
The current invention describes a method for determining the presence or absence of a fetal chromosomal aneuploidy in a pregnant female, the method comprising the calculation of a parameter p from sequences obtained from a biological sample from said pregnant female. The current invention equally provides a method for determining the fetal fraction of said sample.
Cartagenia | Date: 2017-01-18
The current invention concerns a method for identifying the presence of a cancer and/or an increased risk of a cancer in a mammal, by calculating a parameter obtained from a biological sample whereby said cutoff value is a prerequisite for the presence or absence of one or more aneuploidies in said target chromosome or chromosome segment which is an indicator of the presence and/or increased risk of cancer.
Agency: European Commission | Branch: FP7 | Program: CSA-SA | Phase: HEALTH.2013.4.1-4 | Award Amount: 553.89K | Year: 2013
The landscape of genetic testing is rapidly changing. Soon, whole genome sequence analysis (3Gb-testing) will be an effective and financially viable alternative to targeted gene analysis. New technologies that allow efficient sequencing of a whole human genome in a diagnostic setting will have an enormous impact on diagnostic centres replacing many existing molecular and cytogenetic tests. Patients deserve to benefit from our vastly growing knowledge on functional genomics. 3Gb-testing is the ideal method to bring these benefits to the public. However, it is critical to avoid mistakes with respect to ethics, quality, over or mis-interpretation of data. It is essential that our society is prepared for the change once it is implemented. Hence, current gaps in our knowledge have to be identified and research has to be initiated to bridge these gaps. The 3Gb-TEST project will bring stakeholders together and ensure they are informed with respect to the desirable and undesirable developments. The clinical utility and cost effectiveness of whole genome sequencing needs to be determined as part of a robust health technology assessment process (HTA). Interpretation of sequence data in terms of clinical relevance will pose a challenge to both laboratory and clinical geneticists. Substantial investments may be required and the logistic restructuring of genetic services will need to be addressed. This project aims to prepare Europe for innovations in molecular testing. Quality assessment schemes, HTA and guidelines have to be in place. Healthcare professionals must be aware of the impending change and potential impact on practice. The Consortium will inform the healthcare community and make recommendations to the European Commission, the European Society of Human Genetics, and national organizations relevant to this field. A key output will be a validated roadmap for the implementation of diagnostic genome sequencing in Europe.
Agency: European Commission | Branch: H2020 | Program: CSA | Phase: HCO-15-2014 | Award Amount: 1.20M | Year: 2015
The Genetics Clinic of the Future (GCOF) project aims to ensure that the clinical implementation of genome technologies is relevant and responsive to the needs of all. It offers a stepping stone approach towards the genetics clinic of the future, engaging all stakeholders involved in a process of mutual learning and information exchange. The GCOF project implements key Science with and for Society issues, ensuring that ethical reflection and stakeholder involvement do not occur in parallel, but are effectively integrated in the core of the project. It establishes a robust communication and implementation strategy that integrates the projects outcomes and recommendations in research and clinical practices and policy processes, outlining opportunities for a more responsive health research and innovation system by: 1. Envisioning the Genetics Clinic of the Future (WP1) 2. Mapping out the concept of data control (WP2) 3. Considering ethical and legal dimensions in the consent framework (WP3) 4. Exploring novel models for use of clinical data in research and vice versa (WP4) 5. Initiating public engagement, mutual learning and dissemination (WP5) 6. Engaging policy makers (WP6) The consortium brings together 12 key partners from 10 countries across Europe who represent the breadth of stakeholders involved in the genetics clinic of the future: genomics research, clinical genetics, bioinformatics, public health, policy making, patient representation, education, commercial genetics and bioinformatics services, social research, communication, responsible innovation and ethics and law. The GCOF project connects to the major EU-initiatives in the field of personalised health and care. The consortium also represents a variety of organisation types, including research organisations, businesses, policy makers, civil society organisations, education establishments and science & society centres.
Cartagenia | Date: 2014-11-10
A method of target DNA genome analysis is provided. The method comprises the steps of: obtaining non-overlapping segments of target DNA stretches with segment boundaries defined by the presence of particular restriction enzyme recognition sites, whereby the assembly of said non-overlapping segments compose a reduced representation library of said target DNA genome; obtaining for said segments, raw metrics from a sequencing process applied on said reduced representation library; clustering non-overlapping, nearby segments with similar raw metrics to provide master segments; providing metrics describing the master segments, making a final discrete DNA call based on the master segments and its metrics.
Ageing with elegans - Validating C. elegans healthspan model for better understanding factors causing health and disease, to develop evidence based prevention, diagnostic, therapeutic and other strategies.
Agency: European Commission | Branch: H2020 | Program: RIA | Phase: PHC-01-2014 | Award Amount: 7.31M | Year: 2015
Healthspan (the life period when one is generally healthy and free from serious disease) depends on nature (genetic make-up) and nurture (environmental influences, from the earliest stages of development throughout life). Genetic studies increasingly reveal mutations and polymorphisms that may affect healthspan. Similarly, claims abound about lifestyle modifications or treatments improving healthspan. In both cases, rigorous testing is hampered by the long lifespan of model organisms like mice (let alone humans) and the difficulty of introducing genetic changes to examine the phenotype of the altered genome. We will develop C. elegans as a healthspan model. Already validated extensively as an ageing model, this organism can be readily modified genetically, and effects of environmental manipulations on healthspan can be measured in days or weeks. Once validated as a healthspan model, it can be used for an initial assessment of preventive and therapeutic measures for humans, as well as for risk identification and the initial evaluation of potential biomarkers. It will also prove useful to study interactions between genetic and various environmental factors.
News Article | June 20, 2015
- Customers of Cartagenia's Bench Lab NGS software platform now have option to access N-of-One Clinical Interpretation uniquely specific to each patient's molecular profile BOSTON, March 17, 2015 /PRNewswire/ -- Cartagenia, leader in providing clinical genetics and pathology labs with variant assessment & reporting support software, today announced a partnership with Lexington, MA-based N-of-One, an industry-leading provider of patient-specific Clinical Interpretation for molecular profiles at the disease, gene and variant level. With the availability of N-of-One's services from within the Bench Lab NGS software platform, pathology genetics laboratories can now integrate N-of-One Clinical Interpretation based on genomic profiling and tumor information into their somatic variant analysis and reporting workflow. N-of-One Clinical Interpretation saves pathologists and physicians hours of research and preparation time per patient, without sacrificing quality. N-of-One Clinical Interpretation delivers scientific and clinical evidence that supports possible therapeutic strategies relevant to each specific patient case. N-of-One Clinical Interpretation can be configured to easily and efficiently integrate into an organization's reporting needs. The N-of-One Clinical Interpretation services are complementary to the capabilities Cartagenia provides with the Bench Lab NGS platform, noted Steven Van Vooren, scientific co-founder of Cartagenia. "No tumor is exactly the same - and N-of-One has a team of experts that provides exactly those deep and patient-specific insights our pathology lab customers need," Van Vooren said. "Labs automate their somatic variant assessment SOPs on our software platform to identify variants that are relevant to further review, and now can look to N-of-One to provide tailored, patient-specific insights that will efficiently support the pathologists in providing physicians with the relevant information regarding drugs, trials and treatment options. Labs can include configurable N-of-One Clinical Interpretation in their lab reports in a single, controlled and supervised workflow." To enable this partnership, Cartagenia has created the infrastructure necessary to integrate a lab's internal knowledge with external information, such as publicly available databases, data shared between collaborating labs, and partner services. Labs can now bring together their proprietary expert knowledge – from their own curation efforts, literature review, and previous findings from other samples – with up-to-date, tailored content on treatment options. Herman Verrelst, Cartagenia's CEO, states: "NGS is rapidly being adopted as a standard test in pathology labs. Our customers derive great value from complementing their internal knowledge bases with up-to-date, high-quality interpretation and insights that help physicians assess treatment options. We are very excited to work with N-of-One as their team of in-house PhD and MD experts deliver industry-leading, clinical and scientific evidence tailored to each cancer patient's molecular profile." "Cartagenia serves a broad customer base of leading clinical genetics and pathology laboratories that value an efficient diagnostic workflow," said Chris Cournoyer, CEO of N-of-One. "We are excited to partner with Cartagenia. The integration of our Clinical Interpretation services into Cartagenia's clinical-grade software platform for variant assessment support will allow clinical laboratories to keep up with the scale and pace of change in knowledge, and support their physicians in patient treatment planning." N-of-One and Cartagenia will promote the partnership by cooperating on marketing initiatives to inform customers of the benefits and advantages of the joint use of each company's solutions. Cartagenia will be showcasing the availability of N-of-One's Clinical Interpretation services through the Bench Lab NGS software platform at the upcoming American College of Medical Genetics annual clinical meeting (ACMG 2015) on March 25-27 at the Salt Palace Convention Center in Salt Lake City, Utah. About Cartagenia Cartagenia supplies variant assessment support and lab report automation software, database systems, and related services to genetic labs, pathology labs and clinicians, enabling them to perform clinically relevant genetic analyses quickly and efficiently, and offer patients and carers high-quality genetic interpretation and counselling. Cartagenia Bench Lab allows automation of variant assessment protocols and lab report generation for structural and molecular variant assays such as Arrays, Sanger and Next Generation Sequencing. It supports communication with referring physicians, allows labs and clinicians to put variants in their clinical context, and supports confident data sharing. The Cartagenia Bench platform is built in collaboration with genetics labs and clinical experts involved in routine medical practice. Because of this, Bench Lab addresses the specific needs of genetic diagnostic labs and clinicians. Cartagenia Bench is built using a certified ISO13485 Quality Management System and is registered with the FDA as an exempt Class I Medical Device in the United States and as a Class I Medical Device in Europe in conformity with the essential requirements and provisions of the Council Directive 93/42/EEC concerning medical devices, and with the relevant harmonized standards EN ISO62304. About N-of-One N-of-One, a leader in enabling precision medicine for oncology, leverages its world-class team of experts coupled with a highly proprietary platform that allows us to provide clinical solutions and services, such as molecular interpretation, to clinicians at the point of care. N-of-One's team of experts has interpreted thousands of samples for oncologists and patients worldwide, through partnerships with leading diagnostic companies, hospital systems, directly to oncologists and through employee access benefit programs. N-of-One does not provide medical advice or promote any product or service. For more information, please visit www.n-of-one.com or call 617-202-9808.
News Article | May 4, 2015
SANTA CLARA, Calif. & BOSTON--(BUSINESS WIRE)--Agilent Technologies Inc. (NYSE:A) and Cartagenia today announced that they have signed a definitive agreement under which Agilent will acquire Cartagenia, a leading provider of software and services for clinical genetics and molecular pathology labs. Cartagenia, which has offices in Leuven, Belgium, and Boston, Massachusetts, provides software solutions for variant assessment and reporting of clinical genomics data from next-generation sequencing and microarrays. Uniquely geared to routine clinical labs, Cartagenia’s solutions are FDA-registered as exempt Class I Medical Devices in the U.S. and as Class I Medical Devices in Europe. The Cartagenia Bench platform enables technicians, lab directors and clinicians to visualize, assess and report clinical genetics data in the context of patient information. With Cartagenia Bench, labs can build an internal knowledge base, build variant assessment SOPs, automate report drafting, and access a wide range of community-validated, private and premium content resources, whether for oncology or inherited disease. Cartagenia’s platform also provides deep support for consortia of collaborating labs. Data-sharing has become an essential requirement for the community, and through private and public consortia, users can connect and pool their knowledge on rare diseases and actionable findings. “Cartagenia’s approach to enabling the interpretation of clinical genomics data is revolutionary,” said Jacob Thaysen, president of Agilent’s Diagnostics and Genomics Group. “We look forward to providing Cartagenia’s software solutions to our clinical genetics and molecular oncology customers and to providing Cartagenia’s existing customers with access to our global service and support network. Together, Agilent and Cartagenia can help remove bottlenecks inherent in analysis, interpretation and reporting clinical data—resulting in faster answers for patients.” “Joining forces with Agilent is an excellent strategic fit and provides tremendous opportunity both for our customers—who will benefit from integration with a broad family of solutions and a range of new applications—and for our team, as we’ll be able to further accelerate our success and growth through Agilent’s global reach and leading footprint in clinical labs,” said Herman Verrelst, chief executive officer, Cartagenia. The acquisition is expected to be completed May 19, subject to local laws and regulations and customary closing conditions. Cartagenia employs 36 people, all of whom will be offered employment with Agilent. Financial terms of the transaction were not disclosed. Cartagenia supplies variant assessment support and lab report automation software, database systems, and related services to genetic labs, pathology labs and clinicians, enabling them to perform clinically relevant genetic analyses quickly and efficiently, and offer patients and carers high-quality genetic interpretation and counseling. Cartagenia Bench Lab allows automation of variant assessment protocols and lab report generation for structural and molecular variant assays such as Arrays, Sanger and Next Generation Sequencing. It supports communication with referring physicians, allows labs and clinicians to put variants in their clinical context, and supports confident data sharing. The Cartagenia Bench platform is built in collaboration with genetics labs and clinical experts involved in routine medical practice. Because of this, Bench Lab addresses the specific needs of genetic diagnostic labs and clinicians. Cartagenia Bench is built using a certified ISO13485 Quality Management System and is registered with the FDA as an exempt Class I Medical Device in the United States and as a Class I Medical Device in Europe in conformity with the essential requirements and provisions of the Council Directive 93/42/EEC concerning medical devices, and with the relevant harmonized standards EN ISO62304. Agilent Technologies Inc. (NYSE:A), a global leader in life sciences, diagnostics and applied chemical markets, is the premier laboratory partner for a better world. Agilent works with customers in more than 100 countries, providing instruments, software, services and consumables for the entire laboratory workflow. Agilent generated revenues of $4.0 billion in fiscal 2014. The company employs about 12,000 people worldwide. Information about Agilent is available at www.agilent.com. NOTE TO EDITORS: Further technology, corporate citizenship and executive news is available at www.agilent.com/go/news.
News Article | June 27, 2015
HASSELT, Belgium, April 10, 2015 /PRNewswire/ -- UgenTec, a start-up company based in Belgium that develops laboratory software for automating PCR based DNA analysis, announced today that it has received more than €1m in venture capital funding from a group of Belgian investors and an additional €250,000 in research funds from the IWT, a government agency for Innovation by Science and Technology. The investors include former MedHold (now part of Sonic Healthcare) CEO Annie Vereecken, Cartagenia CEO Herman Verrelst and a KULeuven investment group led by prof. Bart De Moor. LRM, a Belgian investment company will also support UgenTec with a loan of €100,000. UgenTec will use the new funds for software development, international expansion including preparation for commercialization in the U.S. and recruitment, noted Wouter Uten, CEO of UgenTec. UgenTec has developed that FastFinder platform for automating PCR based DNA analyses that is currently being used successfully by several medical diagnostic laboratories in Benelux, Germany and France. An additional 50 laboratories in Europe will start using FastFinder this year, Uten added. "There's an increasing demand for DNA analyses in laboratories, so they want to accelerate this process. They can automate the manual analysis of DNA with our software, and this is unique," said UgenTec co-founder, Tom Martens. "We want to expand pan-European in the short term, and also prepare for commercializing FastFinder in the U.S. market in the next 18 months," added Uten. He noted that in order to gain approval from the U.S. Food & Drug Administration (FDA), UgenTec first has to ensure its internal processes comply fully with FDA requirements. UgenTec is also planning to expand its software with new functions and will be recruiting extra .NET developers for this effort, as well as biotechnicians for various roles. In total, UgenTec will almost double its workforce to 15 people. Three new employees have already been recruited and will soon join the eight-man team already at UgenTec. UgenTec has already followed the Health Accelerator coaching course at the Microsoft Innovation Center Flanders, and is also receiving support from the incubators iMinds, Bryo, EIT-ICT labs, Deloitte and IWT, the innovation centre in Limburg. Photos of Wouter Uten and Tom Martens are available here. About FastFinder FastFinder automates PCR based DNA analyses to help trace respiratory infections, STIs and various types of cancer. Lab technicians currently spend about an hour and a half interpreting curves manually to make a diagnosis. The FastFinder platform needs three minutes for the analysis, which means labs can provide patients with results up to 30 times faster. About UgenTec UgenTec is a developer of laboratory software. The start-up automates DNA analyses with its pioneering application, FastFinder. The company was founded by Wouter Uten and Tom Martens in April 2014. Uten developed FastFinder after his work experience placement in a Dutch biotechnology company, which then became UgenTec's first customer. UgenTec employs eight people at the Corda Campus, a cluster of technology companies in Hasselt. More information about UgenTec is available at: http://ugentec.com/.
News Article | November 10, 2016
SANTA CLARA, Calif.--(BUSINESS WIRE)--Agilent Technologies Inc. (NYSE: A) today released Cartagenia Bench Lab 5.0, a major new version of its lab software with new capabilities for somatic variant classification and reporting. Cartagenia Bench Lab is designed to help laboratories involved in clinical genetics and molecular pathology efficiently interpret and report on genomic variants. The clinical-grade software platform – registered as an exempt Class I Medical Device in the U.S. – has become