08:50am Sunday 20 October 2019

Maternal drop of blood for detecting genetic disorders of foetus

The objective of AngeLab, with a budget of 11 million euros, is to achieve a simple and economical device that detects the most frequent prenatal genetic pathologies, such as Down’s syndrome, cystic fibrosis or spinal muscular atrophy. The project aims to validate the device technically through real trials with patients from Osakidetza (the Basque National Health Service).

Detecting genetic disorders of the foetus with a drop of maternal blood which is faster, cheaper and less invasive. This is the ambitious objective of the AngeLab project (acronym for “A New GEnetic LABoratory for non-invasive prenatal diagnosis”), the challenge being to develop the technology necessary to identify the DNA of the foetus from the mother’s blood, analysing just a drop thereof, and thus knowing if the future baby has some genetic illness or other.

The European Project is being led by IK4-IKERLAN – the head of a consortium of different countries in which Basque enterprises have a leading role. With a budget of some 11 million euros, part funded by the European Union through its VII Framework Programme, the project seeks to develop and subsequently commercialise an entire family of rapid diagnosis products capable of detecting the principal genetic illnesses and which will substitute the current invasive techniques.

The consortium initiated by AngeLab is made up of world leaders in non-invasive prenatal diagnosis and in Lab-on-a-Chip technologies. It also has the guidance of an external committee for scientific, economic and ethical questions, placing this project at the vanguard of this field of research internationally.

Advantages over other methods

AngeLab started on the basis that the current techniques for prenatal diagnosis – such as amniocentesis – are invasive, and thus carry a risk for the pregnancy, apart from being very costly. The average cost of a complete prenatal diagnosis is about 875 euros using present methods.

Also, the current screening programmes for Down’s syndrome (non-invasive) do not provide a firm diagnosis of the illness but try to identify those pregnancies with risk of chromosome alteration, in order to limit the number of amniocentesis or corial vellosity biopsies – with all the risks these entail.

The technology to be developed by AngeLab is also different from other methods recently announced by certain companies, and only used in private centres, the cost of which is about 700 euros. The characteristics of AngeLab will enable the automation of these studies in any health care scenario, whether public or private, at a much lower cost.

Circulating foetal DNA analysis, on which the project’s technology is based, is employed in other areas, but its use for diagnosing Down’s syndrome and other aneuploidies is still not widespread due to the complexity of the techniques required (massive sequencing, mass spectrometry, and so on), because of the difficulty in interpreting the results obtained from them, due to the fact that its reproducibility has not been demonstrated, and because of the high costs involved.

“We estimate that the complete test could be launched on to the market for between 100 and 200 euros”, pointed out Jesús Ruano, IK4-IKERLAN researcher and project leader. “We have managed to bring together pioneering businesses and public centres from the world of non-invasive prenatal diagnosis, public hospitals and research centres, experts in Lab-on-a-Chip and in molecular biology, as well as manufacturers into AngeLab, with the goal of developing this novel, automated and cheaper system for separating and analysing foetal DNA from the maternal blood”, he added.

Besides the diagnosis of chromosome alterations, the project aims to include in its device the diagnosis of recessive illnesses, disorders due to alteration in the number of copies of certain genes, or dominant illnesses in which the mother is transmitter, all these being pioneering novelties in the international context and not considered in other research projects currently under way.

Thus, a test of this kind could detect, prenatally, the principal serious illnesses of genetic origin, from cystic fibrosis or spinal muscular atrophy to different aneuploidies (such as Down’s or Edward’ syndromes, amongst others).
If the results of this research project are confirmed, the resulting product will surpass the current mechanisms of reliability in the diagnosis and safety of pregnancy and cost-in the cost-effectiveness of the test.

Bioteknologia, Ikerketa-zentroak, Osasuna, Unibertsitateak

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