Stockholm [Sweden], March 21 (ANI): A clinical study conducted by the journal Genome Medicine, was a major step forward in the emerging field of precision medicine by highlighting the effect of how whole genome sequencing enabled the diagnosis of rare disease.
These results are according to a study from Karolinska Institutet in Sweden which analyzed the results of the first five years of collaboration on whole-genome sequencing between Karolinska University Hospital and SciLifeLab.
“We have created a way of working where hospitals and universities work together to sequence each patient’s entire genome to find genetic explanations for different diseases,” says the magazine’s first author Henrik Stranneheim, a researcher at the Department of Molecular Medicine and Surgery. , Karolinska Institutet. “This is an example of how precision medicine can be used to diagnose and tailor treatments to individual patients.” Large-scale whole-genome sequencing technology, which is the process of determining the individual’s complete set of genetic material, has made rapid progress. in the last decade. Despite this, few clinics around the world routinely use it to diagnose patients.
Just over five years ago, Karolinska University Laboratory and Clinical Genomics at SciLifeLab Genomic Medicine Center launched Karolinska-Rare Diseases (GMCK-RD), which involves researchers from Karolinska Institutet and the KTH Royal Institute of Technology, among others.
During the first five years, the center carried out genome sequencing of 3,219 patients, leading to molecular diagnoses for 1,287 patients (40 percent) with rare diseases. The results are described in the magazine that has now been published.
The researchers found pathogenic mutations in more than 750 genes and discovered 17 new disease genes. In some cases, the results have enabled personal treatment for patients with, for example, hereditary metabolic diseases, rare epilepsy and primary immune deficiencies.
“Clinical whole genome sequencing has had enormous consequences for the field of rare diseases,” says Anna Wedell, professor at the Department of Molecular Medicine and Surgery, Karolinska Institutet, and one of the magazine’s corresponding authors. “Used properly, focused on each patient’s specific clinical situation, new groups of patients can be properly diagnosed and treated in a way that has not been possible before.” manage and interpret millions of genetic variants found in each individual. The center has therefore developed a model that directs the initial analysis to pathogenic variants in genes that are considered relevant to each patient’s clinical symptoms. This means that doctors have an important role to play in deciding which genetic analyzes to do first.
If the initial assessment does not yield a result, the assay is extended to more gene panels until a diagnosis can be established and / or the entire genome sequenced. This process has also made it possible to identify several previously unknown disease genes, which provides new opportunities for in-depth investigation of pathogenic mechanisms.
A significant commitment is currently underway to implement a similar working method on a broader front in Swedish healthcare. For example, Karolinska Institutet and Karolinska University Hospital recently established a joint center for precision medicine (PMCK) which will consolidate cooperation on precision medicine.
“For us to succeed with precision medicine, an interdisciplinary collaboration between healthcare and academia is important,” says the magazine’s other corresponding author Anna Lindstrand, professor at the Department of Molecular Medicine and Surgery, Karolinska Institutet and consultant at Karolinska University Hospital’s Department of Clinical Genetics.
“Through these initiatives, we combine clinical expertise with bioinformatics tools and together deliver accurate diagnoses and individualized treatments.” (ANI)
Source: sn.dk