Your browser doesn't support javascript.
Show: 20 | 50 | 100
Results 1 - 7 de 7
Molecular Genetics and Metabolism ; 132:S258-S259, 2021.
Article in English | EMBASE | ID: covidwho-1735098


Background: Severe acute respiratory syndrome coronavirus (SARSCoV- 2) is a novel virus that causes Coronavirus Disease 2019 (COVID- 19). High-throughput sequencing technologies such as whole genome sequencing (WGS) and sequencing of viral genome DNA are being implemented to identify and report on genetic factors that may influence variability in symptom severity and immune response among patients infected by SARS-CoV-2. Genome sequencing has been useful for clinical diagnostic purposes, and can reveal other useful information such as disease risk factors that might lead to disease prevention or patient management strategies. UsingWGS and bioinformatics software tools, we describe a novel pipeline for the analysis of medically relevant genetic results and other findings identified in COVID-19 positive individuals, and the generation of a genome report that can effectively communicate these results to patients and their physicians. Study design: Enrollment will include up to 1500 patients with a positive COVID-19 nasopharyngeal swab. Blood samples will be collected at baseline, 1 month, 6 months, and 1 year after diagnosis. Antibody isotype (IgG, IgA, and IgM), titers, and viral neutralization will be analyzed. DNA will be isolated from blood lymphocytes and host genomes will be sequenced. Whole genomes will be assessed using ACMG criteria for the interpretation of pathogenic sequence variation using in-house and third-party software tools, and publicly available disease and control databases. Comprehensive gene panels will be implemented to allow for patients to receive clinically significant findings, including risk factor and carrier status, from multiple categories of potential genetic conditions including blood and immunology, endocrine, metabolic/mitochondrial, musculoskeletal, hearing loss, neurology, cardiology, ophthalmology, renal, skin, and gastrointestinal disorders. Common disease risk will be assessed using polygenic risk scores calculated for 6 diseases (atrial fibrillation, coronary artery disease, type 2 diabetes, prostate cancer, colorectal cancer, breast cancer). Pharmacogenomic gene variants that alter metabolizer phenotype and drug response in individuals will be reported, in addition to patient HLA-type. The genomic predictions fromABO and Rh blood types will be summarized and reported. Largescale continental ancestry estimation will be performed using publicly available reference populations. Finally, using viral genome DNA sequencing, the SARS-CoV-2 viral lineage will be identified and reported. An appointment with the study genetic counsellor will be scheduled to discuss results identified in the genome report and manage appropriate clinical referrals if necessary. Serology results will be reported. Regression models will examine associations between antibody response (titer, antigen target, viral neutralization ability), physiological response (biochemical, hematological and clinical characteristics), patient outcomes, viral lineage and genomic results. Significance: This study will link clinically relevant genomic results, in addition to other biological and serological characteristics, to potential factors that contribute to variability in SARS-CoV-2 outcomes. Results will be shared with family physicians for clinical follow up. This study will establish an efficient workflow using highthroughput genomic sequencing technology coupled with emerging bioinformatics platforms for the generation of comprehensive genome reports to aid in COVID-19 patient management and follow-up.

Annals of Oncology ; 31:S1003-S1003, 2020.
Article in English | PMC | ID: covidwho-1384935


Background: The health emergency caused by the SarS-Cov-2 pandemic has a strong impact on oncological patients' (pts) life. The purpose of this study is to explore the emotional impact and pts' perception experienced who accessed to our Oncology section at University Hospital and Trust of Verona (Italy) regarding these rules. Method(s): An questionnaire was designed by our Psycho-Oncology service and administered to all pts accessing to our outpatient facilities during a 21-days period (April 9th - April 30th, 2020). Two main areas were investigated: i) organizational aspects and ii) awareness about infection risks, protective strategies, and new rules adopted (14 items, plus demographic data). Percentage of relevant answers to questionnaire items are reported with 95% confidence intervals (95% CI). Result(s): Among 241 respondents, fear of accessing hospital facilities and that chemotherapy treatment could increase the infection risk was reported to be quite high or high in 34% (95% CI: 29-41%) and 27% (95% CI: 21-33%), respectively. Awareness of disease-related risks of infection and strategies to reduce them was "very clear" or "fairly clear" [83% (95% CI: 78-88%) and 93% (95% CI: 90-96%), respectively]. Availability of medical personnel to be contacted while not in hospital was perceived as "very high". Almost all pts felt that organizational measures were clearly expressed (98%, 95% CI: 96-100%) and mainly obtained through the information received at the triage (73%, 95% CI: 67-79%). Overall acceptance of these measures was very high (>70%). Of note, the acceptance of phone-based follow-up and visits were perceived as "not very adequate" or "absolutely not adequate" by 17% (95% CI: 12-22 %) and 18% (95% CI: 13-23%) of respondents, respectively. Conclusion(s): Herein, we report among the first real-life experiences about oncological pts' perception of infection risks and their level of acceptance of protective measures during SarS-Cov-2 pandemic. A timely and thoughtful measures adoption, the coordinated efforts of all figures involved in cancer care and an effective communication strategy to share the necessary risks and sacrifices with pts/caregivers, can lead to effective protection of oncological pts. Legal entity responsible for the study: The authors. Funding(s): Has not received any funding. Disclosure: All authors have declared no conflicts of interest.Copyright © 2020