[Genetic diagnostics in intellectual disability: what is the benefit?]

Area of Science:

• Medical Genetics
• Genomics
• Developmental Neuroscience

Background:

• Intellectual disability (ID) causes remain unknown in over 50% of individuals.
• Severe ID often has a genetic origin, stemming from de novo mutations or chromosomal abnormalities.
• Accurate diagnosis is crucial for tailored healthcare and anticipating specific needs.

Purpose of the Study:

• To review recent advancements in genetic diagnostic technologies for intellectual disability.
• To highlight the impact of new techniques on the diagnostic yield of ID.
• To project future trends in genetic testing for ID.

Main Methods:

• Review of array comparative genomic hybridization (array CGH) for detecting chromosomal aberrations.
• Analysis of whole exome sequencing (WES) for simultaneous gene testing.
• Discussion of the anticipated role of whole genome sequencing (WGS) in diagnostics.

Main Results:

• Array CGH enables genome-wide detection of chromosomal abnormalities.
• WES allows for the simultaneous testing of all genes, overcoming phenotype limitations.
• These technologies are increasing the percentage of explained ID cases.

Conclusions:

• Rapid progress in genetic diagnostics is transforming the understanding of intellectual disability.
• Exome and future genome sequencing promise to become primary diagnostic tools.
• The diagnostic yield for intellectual disability is projected to rise from 50% to 80%.