FinnGen Study Uses Thermo Fisher Scientific Custom Microarrays For Biobank Genotyping

Microarray. Source: HPC hihi, no changes made, CC BY-SA 4.0.
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Thermo Fisher Scientific Custom Microarrays and the Microarray Research Services program in Santa Clara, California, USA, are being utilized by the FinnGen longitudinal precision medicine study of a Finnish population.

Thermo Fisher Scientific Inc., headquartered in the Greater Boston Area, is the world leader in serving science, with revenues of more than $20 billion and approximately 70,000 employees globally. The company has gone through a series of large mergers and acquisitions since the turn of the millennium, however it can trace its roots back to the founding of Fisher Scientific in 1902. As of October 16, 2018, it had a market capitalization of USD $93.64 billion.

The company’s stated mission is to enable customers to make the world healthier, cleaner and safer. This is achieved through premier brands – Thermo Scientific, Applied Biosystems, Invitrogen, Fisher Scientific and Unity Lab Services. This provides an unmatched combination of innovative technologies, purchasing convenience and comprehensive services.

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The FinnGen study represents one of the largest longitudinal precision medicine studies of its kind, on par with UK Biobank. The project endeavors to analyze genetic information from 500,000 individual blood samples collected by a nationwide network of biobanks and marry it with national health records.

Launched in 2017 and funded by pharmaceutical partners and Business Finland, a Finnish funding agency for innovation, the research program is leveraging Thermo Fisher’s Applied Biosystems Axiom Genotyping Solution, which has been custom designed to meet FinnGen’s specific requirements.

The latest stage is focused on analyzing more than 50,000 samples in six months toward fulfilling the overall goal of a half-million individual samples with Thermo Fisher’s custom microarray technology.

Genetic data from retrospective and prospective samples have been analyzed during the ongoing program, which includes more than 102,000 individuals, to date. The FinnGen project focuses on patients to maximize the number of disease cases and on the elderly to capture a long history of health record data for the study.

FinnGen brings together Finnish universities, hospitals, the National Institute for Health and Welfare (THL), biobanks, international pharmaceutical companies and companies like Thermo Fisher for the effort.

Determining how best to produce the optimum genotype data for such a large-scale endeavor was critical. A genome-wide association design (GWAS) supported by a scalable, and customizable high-throughput microarray platform was the path chosen.

“The availability of health record information from birth to death, the powerful microarray technology we selected and strong collaboration from all the parties involved in the FinnGen project is key to achieving breakthroughs in disease prevention, diagnosis and treatment,” … “Together, with hundreds of thousands of Finns, we are on a journey of discovery into shared heritage.”

“We needed a genotyping pipeline of the highest quality that provided an unrivalled post-lab analytic work flow,” … “In our case, customization was an important component due to the unique needs of the Finnish population, where the population isolate structure has resulted in an enrichment of coding, potentially deleterious variants. Thermo Fisher successfully fulfilled all of our criteria, providing us with a validated, trustworthy industry-level pipeline, which meant that we could just provide our samples and receive high-quality genotypes.” – Aarno Palotie, Ph.D., research director of the Human Genomics Program at HiLIFE in the University of Helsinki/Institute for Molecular Medicine Finland (FIMM) and a faculty member at the Center for Human Genome Research at the Massachusetts General Hospital in Boston, and associate member at the Broad Institute of MIT and Harvard

“We are proud to be active collaborators in this exciting study, and to contribute our powerful genotyping platform to help uncover the incidence and effects of variations relative to disease states in a founding genotype,” … “Axion arrays are consistently selected for their flexibility and reputation of delivering high-quality data.” – Shantanu Kaushikkar, director of Product Management for Thermo Fisher Scientific.