User: Illumina
Rare diseases, though individually uncommon, place a significant strain on healthcare systems due to delays in diagnosis, which can lead to unnecessary or even harmful treatments. Early and accurate diagnosis is crucial, yet standard genetic testing provides a diagnosis in only 20 to 40 percent of cases. This limited success is mainly due to two factors: most tests focus only on exons, missing large portions of the genome, and “short read” sequencing can fail to detect certain mutations.
In this pilot study, the team will apply Illumina’s new technology, which uses “long reads” and advanced software, including AI, to analyze genetic data. By testing 50 rare genetic diseases with no current diagnosis, the team aim to assess the technology’s ability to provide accurate diagnoses.