Intellectual disability (ID) is the most common developmental disorder, affecting 1-3% of the world’s population. It is characterised by significantly impaired intellectual functioning and deficits in adaptive behaviour, representing an important socio-economic problem in healthcare. As these disorders are heterogenous, both clinical and genetically, establishing a conclusive diagnosis is challenging!

In this context, CBR Genomics promoted the In2Genome project in collaboration with the Medical Genetics Unit of the Paediatric Hospital of Coimbra and the Advanced Sequencing Unit of Biocant.

This project aimed to develop a new multidisciplinary approach to the diagnosis of genetic diseases in patients with ID based on exome sequencing analysis. In global, 150 exomes from patients and their parents were sequenced and analysed.

The results of the In2Genome project highlight the importance of rethinking the molecular diagnosis protocol for patients with ID

Clinicians and genetic researchers reached a conclusive diagnosis for 45% of patients, which is a very interesting mark taking into account the 36% reported in the revision from 30 papers. Importantly, most of the cases harboured a de novo genetic variant, i.e. not inherited from parents.

The In2Genome project was successful in its several components, namely (1) in the clinical one by establishing the molecular diagnosis in 28 children; (2) in the social component by contributing to the improvement of the quality of life of patients and their families; and (3) in the technological field by becoming the proof-of-concept of CBR Genomics’ patented technology with regard to the diagnosis of ID.

The diagnostic odyssey no longer has to involve numerous exams and tests over an extensive period. It can be simplified with a faster and more comprehensive genetic analysis, resulting in the improvement of patients' quality of life and disease management.