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Aurora magazine

Genetic testing assistance in diagnosing intellectual disabilities

Total genetic sequencing can diagnose an intellectual disability better than any other tool. Researchers at the Karolinska Institutet in Sweden say this. Scholars have developed analytical tools that they will use for the first time for clinical diagnosis. If all goes well, sifting through the over 800 possible diagnoses available today will be much easier. About 1.5% of Swedes suffer from some kind of intellectual disability, often caused by genetic aberration.

Sometimes this consists of a small anomaly in individual genes, others in complex mutations involving multiple genes. Current genetic tests help to find the right diagnosis in about 12% of cases. The study in question analyzes a new approach.

Researchers have developed their own analytical tool, which they combine with total genome sequencing. The tool carries out more tests, simultaneously with sequencing. In this way, the researchers were able to diagnose about 27% of the patients who had taken the test. Everything took less time, less money and gave better results.

Dr. Lindstrand explains that it is all thanks to the increasingly advanced sequencing technologies. By now, total genome sequencing has become cheap enough to be used on many more occasions. This allows you to develop new tools, so as to speed up and improve diagnoses.