Genetic testing of the future has arrived

​Ten billion small “wells” with room for precisely one strand of DNA were formed using nano-technology in the new DNA chips. Material from patients is placed in the machine. The machine has a very sensitive camera that photographs each "well" and stores information as digital data. Each chip can map the genetic material from 24 individuals. Miriam Yan Juk Guo, Laboratory Technologist, and her colleagues handle a DNA chip with the many small wells. 

Whole genetic material mapped for the first time at Rigshospitalet using new, advanced equipment

A new giant magnifying glass has made it possible to read all details in the human genome, allowing application of the most recent knowledge about genetics for accurate diagnostics and personalised medication. With a brand new gene sequencing machine, Rigshospitalet is the first hospital in Denmark to offer in-house whole genome sequencing analyses for clinical use.

“This new machine means that we can analyse the whole genome of the patient: that is three billion base pairs. Until now, our analyses have only covered 50 million base pairs and we could only aim at areas of the genome in which most known pathogenic genetic defects exist. With whole genome sequencing, we can obtain a higher quality analysis of these areas. This method also allows us to detect more genetic defects in the rest of the genome,” said Ane Yde Schmidt, a biochemist from the laboratory at the Unit of Genomic Medicine. 

“In order for the genetic data to add clinical value, we need to know which genes are causing which diseases. And now that the genome has been mapped, there are more and more of these genes to look for,” said Rasmus Lykke Marvig, MSc in Engineering and responsible for bioinformatic analysis of genes. 

“Today, we know the genes that cause at least 5,000 diseases. Ten years ago, we only knew one-third of these genes, so developments are moving fast and new knowledge is constantly being generated. Therefore, it’s important to analyse the entire genome of the patient,” he said. 

Focus on rare diseases

The first whole genome analysis conducted with the new equipment comes from a patient with a rare immunodeficiency. Patients with rare diseases can benefit particularly from the new equipment.

“We’ll be able to provide a more accurate diagnosis for some of these patients than we can with existing methods. Some patients will also receive a different treatment on the basis of the more accurate diagnostics, as we will be able to find out why a specific patient has a tendency to bleed, for example,” said Ane Yde Schmidt. 

The new equipment will allow us to examine 48 patients a week. For urgent analyses, the response time will be seven-14 days, and for regular analyses, the response time will be around 30 days. 

Huge amounts of data are being processed on a national super computer at DTU Risø Campus 

Rigshospitalet has been linked to DTU Risø Campus via a fibre-optic link; the most powerful link between DTU Risø Campus and a hospital so far. The link will transmit large amounts of data from whole genome analyses, so that data can be stored and processed on the Computerome super computer.

“The data file from the sequencing of a single patient takes up 100 GB, corresponding to all the space on a good mobile phone. Quick analysis of the file requires a lot of processing power. This task can be carried out by Computerome with a power corresponding to 10,000 regular computers,” said Rasmus Lykke Marvig, MSC in engineering from the Unit of Genomic Medicine.

Responsible editor