Raymond Egging, Director Marketing and Sales With the completion of the Human Genome Project in 2003, genetic engineers witnessed the arrival of a new era of rapid, affordable, and more accurate genome analysis through next-generation sequencing (NGS) technology. The ultra-high throughput, scalability, and speed of this new technology immediately enabled researchers to perform a wide variety of study on genomes that were previously not possible. Over the years, the use of NGS has brought incredible advances in inherited disease detection and therapeutic diagnostics.
As the genome sequencing technique further matures, experts of the field believe that more of such diagnostics developments are underway, and to leverage its benefits, a pharma company needs to keep pace with the modernity. This is where Netherlands-based GenomeScan marks its presence in the genetic engineering landscape as a trusted partner for pharma and life sciences companies. The company offers a broad portfolio of customizable NGS-based solutions for pharma, biotech, and academic institutions. The company’s mission is to accelerate disease diagnostics, support clinician decision making, and improve care for patients suffering from genetic disorders. “Along with our in-house clinical experts, we collaborate with researchers from the prestigious Erasmus University Medical Center and Leiden University Medical Center to provide genome research methodologies and data analysis/interpretation relevant for clinical practice,” says Mark Hughes, director of business development, pharma at GenomeScan.
GenomeScan’s forte lies in the use of latest NGS technologies: whole-genome and exome sequencing, targeted gene panels, single-cell sequencing, transcriptomics and methylation profiling on any DNA and RNA sample.
Alongside genomic sequencing, GenomeScan offers disease panel testing, prenatal testing, patient stratification, cell line authentication, and microbiome analysis, to name a few. “For genomic analysis, we have a testing facility that is ISO/IEC 17025 and ISO 15189 accredited as well as GCLP and GLP compliant. Such commitment to quality allows us to deliver 100 percent reliable results,” says Hughes. The company’s in-house laboratory can also accommodate a diverse range of genetic tests for large clinical and drug development studies and deliver genetic profiles or diagnostics (including data interpretation) within 48 hours. This capability is attributed to GenomeScan’s industry-scale sequencers (NovaSeq 6000, PacBio Sequel), automated robots, and robust IT infrastructure.
Hughes also mentions cases where GenomeScan had to develop tailored NGS solutions for the diverse needs of clients. In one instance, a client required an exome sequencing solution to provide complete diagnosis for any fetal anomalies during prenatal testing. The client wanted to provide the final diagnostic report to the patient within five days from the initial blood test. With the help of academic partners, GenomeScan designed the workflow for the client’s wet lab to provide patients with a definitive diagnosis of their unborn child within the desired time. In another instance, a client was undergoing a global clinical trial and required a patient stratification strategy to select patients with neuro-degenerative disease and mutations in the specific gene. GenomeScan’s experts designed a custom and cost-effective genetic test based on long-read sequencing. This approach helped the client have a complete overview of allele-specific mutations, or in simpler terms, the information about the mutations present in a strand of DNA. The test significantly improved the success rate of the clinical trial.
Continuing this success streak, GenomeScan now wants to stay ahead of new developments that are making genomic sequencing more affordable. The company has plans to launch several innovative solutions that will enhance research and diagnostic projects. Through such dedication to genetic analyses, the company intends to root itself as the flag-bearer of innovative genomic technologies.
