Genomics: The Science behind it

BioCertica provides genetic reports for 75 traits for which it assesses the genetic predisposition based on peer-reviewed scientific studies. These 75 traits are distributed across multiple topic-based packages, but you can read more about this in previous sections.

The critical question we want to answer here is how we estimate the genetic predisposition for those 75 traits. We are proud to inform you that we are the first African-based direct-to-consumer genetic testing company to estimate genetic predisposition to various traits and diseases using the polygenic risk scoring methodology. 

We will tell you more about the polygenic risk scoring methodology in a bit. Before that, to underline that most of today’s genetic risk scoring reporting is based on individual genetic variants that are found to be associated with a given trait. For example, let’s say a genetic variant associated with whether you can detect bitter taste or not or similar traits controlled by single genetic variants. 

The problem starts once you want to assess the genetic risk for so-called complex traits and diseases such as for example the genetic risk for heart attack. You might ask why. The problem with complex diseases is that those are not determined by one single gene but by dozens, hundreds, and even thousands of genetic variants, and not all of those genetic variants have equal contributions. In those cases, how do we estimate the risk for that kind of disease? 

Well, to handle those complex traits, we at BioCertica, as already mentioned, implemented the polygenic risk score methodology. Polygenic risk scoring methodology leverages the wealth of scientific knowledge accumulated through hundreds of genome-wide association studies (GWAS). Thousands of individuals were tested in GWAS to identify genetic variants associated with any disease or trait. These studies are the bedrock for building polygenic risk scores for any trait. Important to note that here we talk about peer-reviewed studies published in the leading scientific journals.

For our purposes, we leverage two primary databases: the PGS Catalog and GWAS Catalog, that contain information about traits, studies, and genetic variants based on which we at BioCertica build our products. These databases are managed by leading scientific institutions such as European Molecular Biology Laboratory and European Bioinformatics Institute. In addition, traits and studies reported in these databases pass an additional layer of peer-reviewed process. This is the reason why we use these databases as the primary source for building our new products.

However, in order to leverage the potential of PGS and GWAS Catalogs, we at BioCertica had to develop a series of tools to enrich our originally produced genotype data from our users. This means that we implemented an in-house genotype imputation procedure to sufficiently enrich our users' genotype data to leverage the potential of the polygenic risk score methodology.