Portuguese company develops CE-IVD (CE marking in vitro diagnostic medical devices) bioinformatics tools for highly accurate integration of genetic, pharmacogenetics, guidelines and clinical data; CE-IVD genetic testing kits for cardiovascular diseases for obstetrics, cardiology, cardio-oncology and pharmacogenetics, looks for healthcare companies or research centers that need new/established genetic tests/genetic reporting system interested in distribution services and outsourcing agreements.
The genetic testing and software company operates both in B2C (Business to Consumer) and B2B (Business to Business) markets. For the B2B model, the Portuguese company developed an integrative solution, patent application submitted, in molecular diagnostics that includes an innovative CE-IVD medical reporting software and genetic testing kits for cardiovascular diseases, which can be used by medical doctors in several areas, such as obstetrics, cardiac, inflammation and pharmacogenetics. The genetic reporting software can be used for efficient, accurate and automatized genetic reporting for multiple genotyping platforms. All reports are generated “hands-free” and contains information regarding: customer and sample information; genotyping summary table; gene function and associated genetic risk; phenotype/clinical profile association; frequency of the genetic variant; methods and analytical section; company information and details; trustful scientific references; gene panel analysed. In addition all reports follow the genetic reports following the recommendations from the European Society of Human Genetics and can be generated in multi-languages. The company’ current CE-IVD genetic testing kits offer comprises genetic tests for: arterial hypertension, hereditary thrombophilia; warfarin pharmacogenetics, simvastatin pharmacogenetics, clopidogrel pharmacogenetics, familial hypercholesterolemia (in pipeline) and hypertrophic cardiomyopathy (in pipeline). The genetic testing kit for the evaluation of genetic biomarkers linked to the early development of arterial hypertension and cardiovascular events has patent pending application. A clinical trial has been already performed with more than 600 individuals. The test disease risk score was able to distinguish different disease profiles with more than 82% accuracy. In the B2C market, all the above genetic tests can be also provided as a service. In this model, hospitals and clinics can send their biological samples to the company labs for analysis. Current clients are based in Europe and South America. In this sense, the company is focused on delivering disruptive solutions to bring genetics from the lab to the clinical routine. The product portfolio consists of several cardiovascular genetic tests that may be offered directly to medical doctors or to clinical laboratories, hospitals and companies developing genotyping technologies. In addition to current services, the company develops customizable genetic tests for their clients for research purposes, genetic biomarker validation, or other applications. The company has a highly qualified team of PhDs, engineers and an experienced team of entrepreneurs and MBAs (master of business administration) to cover all aspects of the business from genetics, genomics and informatics to management, economics and marketing. The company has received an international 2013 entrepreneurship award from Everis Foundation, has been selected as one of the 10 finalists of the World Health Summit 2015 Start-up Track held in Berlin (Germany) and has been selected as one of the 16 finalists for the EU eHealth Competition 2016 (Nederlands). The international market represents 80% of the company’s turnover. The company now looks for partners interested in distribution services agreement or outsourcing agreement.
Innovations and advantages
The largest barrier to use genetic testing in clinical routine is the data analysis of the results for a more accurate medical diagnostics. Genetic labs face large operational costs to provide accurate data to support clinicians with the results interpretation. The Portuguese company has developed an integrative solution, patent application, in diagnostics by developing innovative medical devices and genetic testing kits for cardiovascular diseases. The innovative, scalable and easy to use reporting system developed by the Portuguese company allows genetic labs to save a minimum of 30% operational costs and to perform comprehensive and simpler to read reports, supporting accurate diagnosis and risk stratification in cardiovascular field. The medical device is certified as CE/IVD and has the potential to be adapted to any type of genotyping technology. The solutions developed have a higher level of accuracy (99%) regarding sensitivity and specificity when comparing with main competitors and predominant technology. Other important feature is the level of quality and reproducibility of their genetic reports, allowing non-expert laboratories to provide genetic testing services, as well as the significant cost-effectiveness of the overall process. The genetic reporting system has a main advantage of not being dependent of the genomic platform used to obtain the genetic data and can be seen as an independent product with its own market. Unlike most competitors, the CE-IVD certified reporting system has automatic and high throughput capabilities on genetic data analysis by using on- or off-site secure server. In combination with the software solutions, the company’s genetic testing kits in the cardiovascular field deliver genetic reports that are more clinically actionable, accurate, and cost-effective than its direct competitors.
Current stage of development
- The company’s genetic reporting software is a CE-IVD medical device that uses open-source Linux CentOS, mariaDB database, Perl 5, Python, Latex, Catalyst framework, Texlive, AngularJS, R. and other technologies on a mini PC from Intel or in cloud secure system. The output of the system is a pdf file with genetic, pharmacogentics and guidelines recommendations. - The CE-IVD genetic kits are presently optimized for DNA Microchip MassArray platform (single genetic variant analysis).
01004001 Applications for Health
06003002 Gene Expression, Proteom Research
Market application codes
05001005 Molecular diagnosis
05004005 Diagnostic equipment
Type of partner sought
The Portuguese company is looking for: - Outsourcing agreements: Molecular diagnostic laboratories, hospitals, research and development organizations and institutions and specialists on human genetics that need services or products in the cardiovascular genotyping field or looking for customizable genotyping solutions that fit their needs. - Distribution service agreements: Distributors or country partners to promote their genetic testing services for clinical application in the region of interest. The Portuguese company is looking for partners that are used to deal with genetic services, which can additionally provide technologically advanced and innovative services with good clinical and practical value. The ideal partner will be willing to distribute the Portuguese innovative genetic tests and software solutions.