In Italy about 100,000 people have a disease without having a diagnosis, and this is probably a downward estimate to which all those who have an uncertain or incorrect diagnosis should be added. Diagnosis remains the first major obstacle to face and on average it arrives 4.8 years late, 1 out of 3 patients receives a first wrong diagnosis with consequent unsuitable therapies, and some never arrive at a diagnosis. A hand could come from a correct use of the omics sciences, as underlined by professionals and patients during the conference “Towards a National Plan for Precision Medicine: rare diseases laboratory of omics sciences” organized by OMaR – Rare Disease Observatory, Bambino Gesù Pediatric Hospital and Orphanet Italia, under the patronage of BITS – Italian Society of Bioinformatics, Hopen Foundation Onlus and SIBioC – Italian Society of Clinical Biochemistry and Clinical Molecular Biology – Laboratory Medicine, and with the non-conditioning contribution of “JuliaOmix™ by GenomeUp, Roche Diagnostics and Thermo Fisher Scientific.
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“One is never ready for the diagnosis of a rare genetic disease, but the only way to avoid a real ordeal made up of incorrect indications, contraindicated drugs, investigations and inappropriate rehabilitation programs is to find reference associations: timely screening gene is equivalent to an enormous gain in quality of life – said Fabiana Novelli, President of the SCN2A Italia Famiglie in Rete Association – Not all families have the opportunity to move to centers of excellence so the absence of a national network of specialized and certified structures for genetic diagnoses generate enormous hardships in families who often tend to break up in living conditions of disability”.
The proposals
Disseminate the latest generation tests on the territory in a uniform manner, inserting them in the LEA, as a first choice, and at the same time establish a code for rare diseases without diagnosis, recognizing at least for these the need to sequence the exome. “In fact, there is a lack of programs specifically dedicated to diseases without a diagnosis to guarantee patients timely access to diagnosis and social support – recalled Paola Binetti, former President of the Rare Disease Parliamentary Intergroup, during the event – Getting a diagnosis is often the key to accessing effective medical and social assistance but, paradoxically, if there is no diagnosis, there is not even a code number and therefore it is not possible to access certain new generation tests, paid for by the NHS , more sophisticated and more expensive, but undoubtedly more precise, such as genomic tests”.
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1000 diagnoses
Since 2013, the Medical Genetics Laboratory of the Bambino Gesù Pediatric Hospital in Rome has been running a genomics project, with various clinical pathways and research projects dedicated to rare diseases without diagnosis. More than 1,670 patients have been taken in and thanks to these new methodologies it has been possible to diagnose 1,000 children and adolescents with rare diseases of unknown aetiology, and to identify about 100 new disease genes: discoveries that will be useful to other families and researchers to establish genomic risk and pave the way for drug discovery.
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Newborn screening
“To date, the more than 7,000 known rare genetic diseases require early diagnosis that avoids long and costly diagnostic odysseys and allows access to treatment, prevention and new therapies. Neonatal genetic screening would allow for a ‘zero time’ genetic diagnosis of all newborns. Being a genomic medicine approach, which also involves asymptomatic individuals, the topic is very complex and requires an interdisciplinary approach that includes all professional figures. The Screen4Care project is funded by the EU for 5 years and will have to design an optimal path for neonatal genetic screening based on omics and new digital means that will have to support genetic screening and facilitate the management and use of both genetic and clinical data. Screening will be carried out in around 30,000 newborns in Europe. The project has 36 partners including many pharmaceutical and in vitro diagnostics industries”, highlighted Alessandra Ferlini, Professor of Medical Genetics, University of Ferrara.