OBJECTIVE

Enable free access to genetic testing for the diagnosis of:

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  Hereditary transthyretin amyloidosis

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  Acute hepatic porphyria

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  Primary hyperoxaluria type 1

In Italy, only a few centres have in-house specialised genetic services, with uneven distribution across the country. GenILAM was therefore created to facilitate more equitable access to genetic testing, for the benefit of clinicians and patients.

OBJECTIVE

support clinicians by providing a targeted mutational profile of genes relevant to breast cancer, promoting more complete and accurate diagnostic pathways.

The analysis involved NGS sequencing on Liquid Biopsy and tissue from patients with breast cancer. To facilitate sample management, a dedicated portal was developed for participating centres to monitor progress through the various analytical phases.

The project contributed to making advanced molecular profiling technologies more accessible, offering concrete support to healthcare professionals and patients.

OBJECTIVE

detect PIK3CA gene mutations in patients with HR+ HER2- metastatic breast cancer.

The project used advanced technologies such as Real Time PCR and Next Generation Sequencing to analyse tissue or blood samples. The initiative, which received an unconditional contribution from Novartis, facilitated access to essential tests for personalised diagnosis and treatment.

The project is now closed, but contributed to improving clinical management and therapeutic support for patients.

OBJECTIVE

improve the therapeutic management of patients affected by:

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  Chronic Myeloid Leukaemia (CML)

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  Philadelphia-positive Acute Lymphoblastic Leukaemia (Ph+ ALL)

Thanks to Next Generation Sequencing (NGS) technology, it was possible to identify mutations in the tyrosine kinase domain of BCR-ABL, responsible for resistance to TKI drugs, providing crucial information for therapy personalisation.

The service, offered free of charge to Italian haematology centres by Eurofins Genoma Group with the unconditional support of Incyte, included sample shipping and test execution, at no cost to participating centres and patients.

OBJECTIVE

support the genetic diagnosis of inherited retinal dystrophies associated with biallelic mutations of the RPE65 gene.

Thanks to Next Generation Sequencing (NGS) technology, the project enabled the analysis of RPE65 gene mutations with high sensitivity, using non-invasively collected biological samples.

The service, thanks to the unconditional contribution of Novartis, provided Italian clinical centres with a complete workflow for genetic diagnosis, contributing to correct disease classification and the possibility of access to targeted therapies.

OBJECTIVE

identify mutations in the MEFV, MVK, NLRP3 and TNFRSF1A genes in patients with autoinflammatory diseases, such as hereditary recurrent fevers.

The initiative supported clinicians by providing targeted mutational profiles of genes of interest, facilitating early diagnosis and access to appropriate treatments. The service was fully delivered by Eurofins Genoma Group, with sample management and reports through a dedicated portal for participating centres.

The project, sponsored by Novartis, is now closed, but contributed to improving access to advanced genetic tests and supporting the clinical management of patients with autoinflammatory diseases.

OBJECTIVE

improve knowledge of familial chylomicronaemia through the analysis of key genes (LPL, LMF1, APOA5, APOC2, GPIHBP1).

Familial chylomicronaemia is an ultra-rare genetic disease that causes extremely high triglyceride levels and increases the risk of serious complications such as pancreatitis. The project, managed in collaboration with PHD Lifescience, uses genetic diagnosis as a key tool to support clinicians in identifying the most appropriate care pathway.

OBJECTIVE

identify the genetic causes of hepatic cholestasis and promote early and accurate diagnosis, offering free access to a next-generation genetic test.

The analytical panel provided by the GEHCho project covers 77 genes associated with hepatic cholestasis, analysed using NGS (Next Generation Sequencing) technology at the Eurofins Genoma laboratory. The project benefits from the unconditional support of Ipsen.

OBJECTIVE

enable patients to access free genetic analysis of the FCGR3A gene to personalise therapy for individuals affected by NMOSD.

Genotyping of the FCGR3A polymorphism (F158V; rs396991) can provide useful information for personalising the therapy of individuals affected by Neuromyelitis Optica Spectrum Disorder (NMOSD), a rare autoimmune disease that affects the central nervous system, particularly the optic nerve and spinal cord.

The project is offered in collaboration with PHD Lifescience.