Individualised Medicine push by latest Microarray Technologies

Jens Wiehler, Business Unit Manager, Eurofins Consumer DNA Services, jenswiehler@eurofins.com  and
Daniel Langhoff, Business Development Manager, Eurofins Genomics, daniellanghoff@eurofins.com

Personalised, translational or “precision medicine” – the terms are many and the hype is ubiquitous. Indeed, having an approach to incorporate people’s individual environment, genes and lifestyle into diagnosis, disease prevention and treatment promises to transform our healthcare systems. This is backed up by President Obama’s Precision Medicine Initiative and the EU’s Innovative Medicines Initiative 2. Eurofins supports its clients in their initiative to spearhead these approaches by providing high quality service and huge capacities, based on game-changing cost-efficient genomic chip technologies.

Disruptive innovations enabled by DNA technologies

One of the drivers for “precision medicine” is the enormous speed of innovations in genomic technologies. Remember, DNA sequencing is the fastest technological development ever on earth. The first human genome mapping was completed in 2003. Today, full genomes of large donor cohorts have been analysed via next generation sequencing technologies, giving scientists an enormous leap in understanding gene-disease relationships, functional background, drug metabolism and side effects. This has been followed by new targeted technologies, providing analytical power for more in-depth analysis and for larger cohort testing and stratification.

Uncovering genetic background of health and diseases with large cohort studies

One of the standing challenges is to retrieve statistically sound information about how traits are related to individual complex genetic backgrounds. Such large scale genome-wide association studies (GWAS) are used in human and animal healthcare contexts and massively in “marker-assisted” animal and plant breeding, as one of the solutions to “feeding the world.” Technologically, DNA microarrays with up to a few million genetic markers are currently key to screening through the genetics of large numbers of individuals. The analytical costs from tissue, blood or saliva sample to high marker density results are already well below $100 per sample.

Array throughput of up to 15,000 GLP/GCP samples per week

In Europe, Eurofins Genomics has established the largest commercial laboratory for such analyses. Its clients, who are pharmaceutical companies, biobanks and academic institutions, enjoy a throughput of up to 15,000 samples per week.This includes full GLP/GCP certification and turnaround times of down to one week. Fifteen years ago Eurofins Genomics was already the European pioneer service provider. Eurofins Genomics is Illumina CSPro Certified and Affymetrix Authorised Service Provider. Its references of previous microarray projects include genotyping of 500,000 sample cohorts and national biobank screening.

Game changing new array secured by Eurofins, available October 2016

A particularly exciting development is the Illumina Infinium® Global Screening Array, which will be fully released end of 2016. Due to the combination of drastically reduced costs and quality improvements it’s expected to become a new standard in the healthcare industry and academia. It contains more than 700,000 up-to-date markers, optimised for human GWAS, including clinically relevant content, rare variants, global population resolution of which up to 50,000 can be optionally replaced by custom markers. The array is further optimised to allow “imputing” for approximately 85% of all known human genetic markers (with an accuracy score > 0.80). As an example, for the American super population alone, 10 million markers with a “minor allele frequency” of >1% can be addressed by imputation. Already pre-release, Global Screening Arrays for analysis of far above 3,000,000 samples have been ordered through participants of an Illumina consortium. This paves the way for new cohort sizes, driving further realisation of diagnosis, disease prevention and treatment promises. No need to emphasise that Eurofins Genomics has signed up to the consortium, as one of very few service providers, to secure the opportunity for its clients to benefit from lowest costs and earliest access. Eurofins is fully prepared to run large cohorts in GWAS, clinical studies and biobanking. Teaming with its clients from the pharmaceutical industry, biobanks and academic institutions, Eurofins Genomics continues contributing to progress in diagnostics, drug development and individualised medicine.

For more information, visit www.eurofinsgenomics.eu/gwas