Polygenic risk score application including severe COVID-19


July 15, 2020

The vast majority of differences between humans is caused by variations in their DNA, usually by alterations within a single nucleotide (SNP - single nucleotide polymorphism). Traits related to our health and well-being are influenced by a large number of such SNPs scattered throughout the genome and affecting many genes. Importantly, while each SNP impacts the particular trait only minimally, together they may tip the odds toward the disadvantageous phenotype (e.g. increased risk of a specific disease).

Therefore, we determine analyzed genotype at all genomic positions, which are known to influence the specific traits. A score obtained this way is called a polygenic risk score. It allows us to estimate the joint effect of all the SNPs in the context of the particular trait. As a result, it is possible to assess a person's genetic predisposition to a certain phenotype.

For each trait, we did extensive literature search. We compare a person's polygenic risk scores to risk scores calculated for >1000 individuals (usually more than 10,000) of European ancestry and categorize results as “low”, “moderate” or “high” in reference to each trait in our offer. 

Severe COVID-19 with Respiratory Failure - risk assessment

Recently, we have finished work on the first version of the test for predisposition to severe COVID-19. The test is based on the results from the recently published GWAS study (Ellinghaus D et al., 2020), and identifies significant genetic factors involved in the development of severe Covid-19 with respiratory failure. The test will include additional genetic variants as new results in the field are published.

Currently, we are working on the test consisting of a gene panel associated with susceptibility to viral infection including SARS-CoV-2.

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