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FinnGen, Metabolon to Incorporate Metabolomics in Study of Finnish Population


NEW YORK – FinnGen, Finland's public-private population health research project that is aimed at improving health outcomes through genomic information and digital healthcare data, has partnered with North Carolina-based Metabolon to understand how disease-associated genetic variants affect the metabolic profiles of their carriers.

The initiative has already identified some 400 new disease-associated variants that are enriched in the Finnish population, and FinnGen hopes to advance its understanding of these variants with metabolomic data.

"You have an association, but how do you get into the biology?" said Aarno Palotie, FinnGen's scientific director. "One of the ways of doing it is by looking at those who carry these variants but haven't got the disease yet. We'd like to explore what we see in their metabolic profile as a consequence of these genomic alterations."

FinnGen chose to focus on genetic carriers for this project, as these individuals' steady state metabolic profiles can provide insights into the basic biology of disease processes that have multiple downstream consequences that are hard to distinguish from early triggers or events.

This, Palotie explained, might grant researchers an early view of the metabolic consequences of disease-associated variants before disease processes have influenced an individual's overall metabolic state.

"In the next step, individuals who have developed the disease are of obvious interest, but that is a follow-up analysis," Palotie said, adding that "if we started with disease carriers, there would be a high likelihood that the disease process would cover the actual underlying, key features of the variants' contribution to early events in a disease."

Metabolites often play regulatory roles in health and disease, such as vitamin D impacting the immune system by promoting monocyte differentiation and antigen presentation, or the ways in which lipoprotein metabolites modulate cytokine responses. The degree to which these effects are driven by genetic versus non-genetic factors, however, is often unknown, as the metabolomics field features comparatively few large-scale studies.

"The FinnGen study is an example of how an increasing number of population health cohorts and even biopharma companies are integrating metabolomics with genomic and clinical datasets to link variants with metabolic pathways, providing more biological understanding to ultimately impact patient outcomes," Rohan Hastie, Metabolon's president and CEO, said via email.

In addition to its collaboration with FinnGen, for instance, Metabolon works with Seres Therapeutics to identify promising microbiome-based therapeutics for preventing C. difficile recurrences, and with Siolta Therapeutics to identify similar therapies aimed at treating chronic inflammatory diseases.

Founded in 2000, Metabolon has developed a wide range of services, including study design and consulting, sample preparation and handling, bioinformatics, and data interpretation for both global metabolomics and targeted assays.

The Microbiome SmartPanel is the company's most recent offering, designed to identify biologically relevant microbial and host-derived metabolites and xenobiotic molecules that can help explain how microbial processes impact their host's health.

The FinnGen collaboration will focus on a few thousand patient samples, rather than the full cohort, although the contract, financial details of which the partners did not disclose, runs for the next 18 months and may be extended after that.

"Metabolon’s team will work closely with FinnGen," Rangaprasad Sarangarajan, the company's CSO, said via email, "providing end-to-end support from laboratory-specific operational logistics, including sample handling and shipping, to generating the highest quality metabolite count dataset in the industry and providing curated high-quality data via our delivery portal ready for analysis."

FinnGen has identified numerous gene variants associated with diseases that have known metabolic components. These range from diabetes to senile cataracts, as well as a range of immune-mediated and obesity-associated disorders.

"We have to remember that these are not the only variants that contribute to the disease," said Palotie, "but these are those where we might have an avenue to understand the biology better."

Most of the variants in these cases, he explained, occur in regulatory regions, which are harder to analyze than protein-coding regions. The attempt to fully characterize these variants and their effects will involve multiple experimental approaches, including proteomics and immunological assays, in addition to genomic and metabolomic profiling.

Beyond the metabolomics project, FinnGen overall aims to characterize 500,000 Finnish biobank participants, although the consortium will collect data from approximately 525,000 to account for losses and partial datasets that inevitably occur along the way. The project has currently collected data on 502,000 individuals.

The public-private partnership comprises six public and 13 private organizations and has raised just under €90 million ($102.8 million) to date.