Quick, non-invasive and affordable diagnosis of fetal genetic diseases via maternal blood. That is the ambitious goal of AngeLab project (acronym for "A New Genetic Laboratory for non-invasive prenatal diagnosis"), which has set a challenge to develop the technology to identify fetal DNA present in the blood of the mother and being able to analyze it.
The European project is led by IK4-IKERLAN, with a consortium of different countries and a budget of 11 million, funded in part by the European Union through the Seventh Framework Program. The project seeks to develop and later commercialize a family of rapid diagnostic products that are able to detect main genetic diseases to minimize as much as possible current invasive techniques.
The AngeLab consortium will join world leaders in non-invasive prenatal diagnosis technologies and in Lab-on-a-Chip technologies. It also counts with the advice of an external committee for scientific, economic and ethical counseling, bringing the project to the international forefront of research in this area.
Advantages versus current methods
The AngeLab advantages over current methods of prenatal diagnosis, such as amniocentesis, are the non-invasiveness and therefore its intrinsic lack of risk for the fetus, besides being very costly in economic terms. The average price of a comprehensive prenatal diagnosis is around 875 euros.
On the other hand, current screening programs for Down syndrome (non-invasive), do not provide a definitive diagnosis but try to identify those pregnancies with a risk of chromosomal abnormality to limit the number of amniocentesis or chorionic villous biopsy.
Recently, it has been announced other non invasive methods used by private companies, with a cost around 700 euros and using expensive, non European patent license, and complex Next Generation Sequencing Systems. Against these systems, this project will provide a much simpler tool affordable by any health field, whether public or private and making use of existing and new European Patents.
In addition to the diagnosis of chromosomal abnormalities, the project will diagnose genetic diseases that alters the number of copies of certain genes, recessive diseases and dominant diseases in which the mother is the transmitter. These pioneering developments are not covered by any international or other research projects currently underway.
"We estimate that the entire test could be launched to the market with a price between 100 and 200 euros," said Jesus M. Ruano-Lopez, IK4-IKERLAN researcher and project leader. "We have successfully put together pioneering companies and public institutions in the world of prenatal diagnosis, public hospitals, plus research experts in Lab-on-a-Chip, molecular biology, and manufacturers. These partners are now part of AngeLab team with the aim of developing this new automated and cheaper system to first separate and then analyze the fetal DNA from maternal blood", he adds.
Therefore, such AngeLab systems could detect the most serious prenatal genetic diseases ranging from cystic fibrosis and spinal muscular atrophy to different aneuploidies (such as Down syndrome or Edwards, among others). If the results of this research project are confirmed, the resulting product will surpass the features of current pregnancy test in terms of reliability, safety and cost-effectiveness.
Validation with patients
The project is scheduled to complete its work within four years with a plan pilot production of the new device, which will be verified by the research centers, and technically validated with patients through more than 400 diagnostic tests in Hospital de Donostia (Biodonostia), Hospital de Basurto from Spain and CING from Cyprus.
The Health Care Systems involved in the project have noted the importance of the technology sector capturing the needs of clinical practice and align them with the envisioned research for the co-development of these products.
IK4-IKERLAN coordinates a broad consortium of research centers, universities, and companies across Europe. In addition to the Health Services: Osakidetza (Hospital de Basurto) / BIOEF, Hospital de Donostia (BioDonostia) from Spain, and CING (Cyprus), companies such as POC MicroSolutions and DNA Data from Spain, CAN (Germany), NIPD (Cyprus), EVGroup (Austria), Ademtech (France) and Biopharma (UK) take part as the business part of the consortium. The consortium is completed by IK4-GAIKER and Fundacion Rioja Salud from Spain, HSG-IMIT from Germany, and WUT from Poland. The consortium has recently met in Mondragón (Spain) to launch this research activity.
Research, development and commercialization
Jesus M. Ruano-Lopez noted that "AngeLab is another example of the strategic commitment of IK4-IKERLAN and the rest of partners to propose new health solutions and techniques that reduce costs, increase the speed in obtaining results, avoid invasive procedures and customize medicine to consider the patient as an active and responsible for their health"
Ruano-Lopez noted that "our work includes research and development, but also the realization and commercialization of the results" through the companies involved in the consortium. The provider of diagnostic systems will be POC MicroSolutions, Biopharma will provide stored reagents, and Ademtech magnetic beads, while the companies that will distribute and commercialize the systems will be NIPD Genetics and DNA Data. EVGroup will sell the manufacturing equipment to fabricate the Lab-on-aChips.