Genome sequencing impact diagnoses of rare diseases

A new clinical study has highlighted how whole genome sequencing is making the diagnosis of rare diseases possible. The study, reported in the journal Genome Biology by a team from the Karolinksa Institutet at Solna, Sweden, analysed data from the first 5 years of a collaboration between the Institute and SciLifeLab – the Science for Life Laboratory – an institution for the advancement of molecular biosciences funded by government in Sweden.

Despite the advances that have been in recent years in whole genome sequencing, there are still very few clinics globally who use the technology to diagnose disease in patients. In the five years since the collaboration began, the centre has sequenced DNA from over 3000 patients, and has translated this into a over 1000 diagnoses of patients with rare diseases.

With mutations found in 750 specific genes, and the identification of genes for 17 genes implicated in rate diseases, the research has already seen patients receiving personalised treatment options.

A significant challenge of whole-genome sequencing is how to manage the data from the millions of genetic variants that are held within an individual’s genome. Interpreting this data compounds the challenge further. The models that help with this process still require medical record data to add meaning and context to the genomic information. Physicians, therefore, play a critical role in helping to identify where to focus attention for genetic analysis.

Anna Lindstand, professor of Molecular Medicine and Surgery at Karolinska, and corresponding author on the paper confirms this. “For us to succeed with precision medicine, a multidisciplinary collaboration between health care and academia is essential. Through these initiatives, we combine clinical expertise with bioinformatic tools and together deliver accurate diagnoses and individualised treatments.”