Employing a systematic approach to biobanking and analyzing clinical and genetic data for advancing COVID-19 research

• Published in: European journal of human genetics : EJHG Vol. 29; no. 5; pp. 745 - 759
• Main Authors: Daga, Sergio, Fallerini, Chiara, Baldassarri, Margherita, Fava, Francesca, Valentino, Floriana, Doddato, Gabriella, Benetti, Elisa, Furini, Simone, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Meloni, Ilaria, Pinto, Anna Maria, Raimondi, Francesco, Stella, Alessandra, Biscarini, Filippo, Picchiotti, Nicola, Gori, Marco, Pinoli, Pietro, Ceri, Stefano, Sanarico, Maurizio, Crawley, Francis P, Birolo, Giovanni, Renieri, Alessandra, Mari, Francesca, Frullanti, Elisa
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.05.2021; Springer International Publishing
• Subjects: Adaptive immunity; Adolescent; Adult; Artificial Intelligence; Biological Specimen Banks; Chemical sensors; Clotting; Computer Science; Coronaviruses; COVID-19; COVID-19 - epidemiology; COVID-19 - genetics; Cytokine storm; Cytokines; Data collection; Female; Gene mapping; Genetic Predisposition to Disease; Genotyping; Humans; Italy; Leukocytes; Liver; Male; Olfaction disorders; Pancreas; Population genetics; Registries; SARS-CoV-2; Severe acute respiratory syndrome coronavirus 2; Single-nucleotide polymorphism; Specimen Handling; Statistical analysis; Supplements; Thromboembolism; Italy
• ISSN: 1018-4813; 1476-5438; 1476-5438
• DOI: 10.1038/s41431-020-00793-7

Within the GEN-COVID Multicenter Study, biospecimens from more than 1000 SARS-CoV-2 positive individuals have thus far been collected in the GEN-COVID Biobank (GCB). Sample types include whole blood, plasma, serum, leukocytes, and DNA. The GCB links samples to detailed clinical data available in the GEN-COVID Patient Registry (GCPR). It includes hospitalized patients (74.25%), broken down into intubated, treated by CPAP-biPAP, treated with O supplementation, and without respiratory support (9.5%, 18.4%, 31.55% and 14.8, respectively); and non-hospitalized subjects (25.75%), either pauci- or asymptomatic. More than 150 clinical patient-level data fields have been collected and binarized for further statistics according to the organs/systems primarily affected by COVID-19: heart, liver, pancreas, kidney, chemosensors, innate or adaptive immunity, and clotting system. Hierarchical clustering analysis identified five main clinical categories: (1) severe multisystemic failure with either thromboembolic or pancreatic variant; (2) cytokine storm type, either severe with liver involvement or moderate; (3) moderate heart type, either with or without liver damage; (4) moderate multisystemic involvement, either with or without liver damage; (5) mild, either with or without hyposmia. GCB and GCPR are further linked to the GCGDR, which includes data from whole-exome sequencing and high-density SNP genotyping. The data are available for sharing through the Network for Italian Genomes, found within the COVID-19 dedicated section. The study objective is to systematize this comprehensive data collection and begin identifying multi-organ involvement in COVID-19, defining genetic parameters for infection susceptibility within the population, and mapping genetically COVID-19 severity and clinical complexity among patients.