Date: 24th September 2020
It is now well recognised that COVID-19 severity varies greatly between people and understanding these variations is crucial in limiting its devastating effects and spread. Now Congenica have announced the release of a new module for their genomic analysis platform that will accelerate research into the relationship between an individual’s genomic variation and COVID-19 susceptibility, severity, and clinical outcomes.
The global scientific community have been diligently working for many months to understand why the severity of COVID-19 can vary so widely between people. Some risk factors are now well-established for example an increased morbidity and mortality associated with increasing age and co-existing health conditions such as cancer, cardiovascular disease and diabetes. However, the human genetic factors underlying high transmission or disease progression and severity remains largely unknown.
Recent work has supported that DNA polymorphisms are likely to be associated with genetic susceptibility, such as are found in two key host factors of SARS-CoV-2: ACE2 or TMPRSS2. Furthermore, genetic variation associated with blood groups and ethnic background may also play a role. However, genome wide analysis and interpretation of the rapidly increasing, vast volumes of research literature remains challenging and time consuming.
To help address these issues Congenica have launched a COVID-19 module, available within the company’s genomic analysis software platform, which will enable scientists to focus analysis on the host genetics that underpin COVID-19 infection using high-quality sets of relevant genes.
Congenica are a digital health company based in Cambridge, UK, that enable genomic medicine via the rapid analysis and interpretation of genetic data with their Clinical Decision Support platform. They have been working with the UK Government in a major whole genome sequencing project designed to help scientists uncover the genetic susceptibility to COVID-19 in a ground-breaking nationwide study.
Congenica has carefully curated genes that have high-confidence relationships with coronavirus infection and replication progression, and subsequent immune response and severity. The new COVID-19 module will allow researchers to prioritise variants in curated genes using COVID-19-related Human Phenotype Ontology (HPO) terms such as loss of smell or dry cough and to include information about viral strain or treatment regimen, incorporating the latest findings from the growing scientific literature to aid research.
It is hoped that the new module will help researchers in their work to identify effective treatments and improve clinical outcomes. In addition, it will vastly reduce interpretation costs (by up to 95%) and will allow researchers to obtain genetic information 20 times faster than previously possible.
For more information please see the press release from Congenica