New technology enables faster diagnoses of genetic health conditions
Photo: Mikael Wallerstedt
The Academic Laboratory at Uppsala University Hospital has recently acquired a new instrument for large-scale sequencing of both clinical and research samples. This enables faster diagnoses for more patients. In 2024, approximately 40 percent more samples from patients with a suspected genetic disease were analyzed compared to 2023.
Marie-Louise Bondeson. Photo: David Naylor
Analyzing the samples in-house facilitates the logistics and enables faster diagnoses for patients with a rare disease. The new instrument also reduces the cost per sample, says Marie-Louise Bondeson, clinical laboratory geneticist and leader for the work on inherited diseases at Clinical Genomics Uppsala.
The new instrument for large-scale sequencing, NovaSeq X plus, was put into operation at the Clinical Genetics department in May 2024. The instrument has enabled faster and more large-scale analyses. Thanks to its high capacity, many samples that were previously sent to external laboratories can now be analyzed internally. In 2024, the number of samples from patients with a suspected hereditary disease increased by approximately 40 percent compared to 2023.
The first clinical diagnostic tests to be implemented on NovaSeq X plus were whole-genome sequencing (WGS) for rare diseases, and WGS and whole-transcriptome sequencing (WTS) for children with acute leukemia. Work is currently ongoing to implement additional tests on the new instrument, including whole-exome sequencing for some inherited disorders, and gene panels for hematological malignancies as well as inherited cancer forms.
Whole-genome and transcriptome sequencing enables better risk-stratification and identification of additional treatment options for children with cancer. I hope that this approach will be also available for adults in the near future. Implementation of these large-scale analyses in clinical practice would not have been possible without the new instrument, says Panagiotis Baliakas, senior physician and director of Clinical genomics Uppsala.
Clinical Genomics Uppsala played a key role in the development and implementation of new diagnostic tests at NovaSeq X plus. In addition to being used for clinical diagnostics, the instrument is available for research service, opening up for more large-scale research projects.
Panagiotis Baliakas. Photo: Anna Olsson