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R&D: the pipeline

IntegraGen continues to improve performance of the biomarker panel and has launched development of the “non-family” panel. This will be intended for children showing signs evocative of autism.

IntegraGen has decided to use a panel of 65 genes, the performance of which is checked by means of replication using an independent cohort of children with autism.

The performance of this panel is very significantly improved with respect to the previous 4 and 8 gene panels (sensitivity multiplied by 2-3 for equivalent specificity).

This confirms the fact that adding selected new genes can improve performance of the multi-gene model.

This development made it possible to control the selection of genes and SNPs for inclusion in the genetic-score model and develop a proprietary score formula.

The results of academic research served to develop design of the next version of the test very quickly.

This panel is intended to reflect all genetic and non-genetic events described in the literature and recognised as being related to autism.

It will be the only tool exclusively designed to establish the risk of a child contracting autism.

The technological support chosen should allow it to be developed as and when required.

The move to a non-family panel, exclusively intended for children showing signs evocative of autism, will be conducted in 2 phases.

The first phase will consist of using the panels established in the context of family autism and evaluating them with respect to a prospective cohort of patients.

The second phase will consist of enriching the gene panel by conducting linkage studies, GWAs and high bit-rate sequencing on a new cohort of patients.

Use of non-genetic factors related to autism is also envisaged.

IntegraGen thus continues development of biomarkers that will help clinical practitioners to improve early diagnosis and ensure more efficient care for children suffering from autism.