Genome screening, reporting, and genetic counseling for healthy populations.

Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. To incorporate genomic information into the practice of medicine, new processes for the analysis, reporting, and communication of GS data are needed. Blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N = 1500). GS was performed. Data were filtered and analyzed using custom pipelines and gene panels. We developed unique patient-facing materials, including an online intake survey, group counseling presentation, and consultation letters in addition to a comprehensive GS report. The final report includes results generated from GS data: (1) monogenic disease risks; (2) carrier status; (3) pharmacogenomic variants; (4) polygenic risk scores for common conditions; (5) HLA genotype; (6) genetic ancestry; (7) blood group; and, (8) COVID-19 viral lineage. Participants complete pre-test genetic counseling and confirm preferences for secondary findings before receiving results. Counseling and referrals are initiated for clinically significant findings. We developed a genetic counseling, reporting, and return of results framework that integrates GS information across multiple areas of human health, presenting possibilities for the clinical application of comprehensive GS data in healthy individuals.

The use of virtual complementary and integrative therapies by neurology outpatients: An exploratory analysis of two cross-sectional studies assessing the use of technology as treatment in an academic neurology department in New York City

Background Prior to the COVID-19 pandemic, about half of patients from populations that sought care in neurology tried complementary and integrative therapies (CITs). With the increased utilization of telehealth services, we sought to determine whether patients also increased their use of virtual CITs. Methods We examined datasets from two separate cross-sectional surveys that included cohorts of patients with neurological disorders. One was a dataset from a study that examined patient and provider experiences with teleneurology visits;the other was a study that assessed patients with a history of COVID-19 infection who presented for neurologic evaluation. We assessed and reported the use of virtual (and non-virtual) CITs using descriptive statistics, and determined whether there were clinical characteristics that predicted the use of CITs using logistic regression analyses. Findings Patients who postponed medical treatment for non-COVID-19-related problems during the pandemic were more likely to seek CITs. Virtual exercise, virtual psychotherapy, and relaxation/meditation smartphone applications were the most frequent types of virtual CITs chosen by patients. In both studies, age was a key demographic factor associated with mobile/virtual CIT usage. Interpretations Our investigation demonstrates that virtual CIT-related technologies were utilized in the treatment of neurologic conditions during the pandemic, particularly by those patients who deferred non-COVID-related care.

What we say and what we do: The perils of ethical consensus

A new book argues that South Africa could better fight poverty and inequality if the country recognised that caring for others is a duty. It is argued here that the problem is not that we do not all agree on the need for care - it is that we disagree on what that means. A more equal country is possible, not if we all claim to support the same principles, but if we acknowledge our differences and seek compromises between them.

Implementation of serological and molecular tools to inform COVID-19 patient management: protocol for the GENCOV prospective cohort study.

INTRODUCTION: There is considerable variability in symptoms and severity of COVID-19 among patients infected by the SARS-CoV-2 virus. Linking host and virus genome sequence information to antibody response and biological information may identify patient or viral characteristics associated with poor and favourable outcomes. This study aims to (1) identify characteristics of the antibody response that result in maintained immune response and better outcomes, (2) determine the impact of genetic differences on infection severity and immune response, (3) determine the impact of viral lineage on antibody response and patient outcomes and (4) evaluate patient-reported outcomes of receiving host genome, antibody and viral lineage results. METHODS AND ANALYSIS: A prospective, observational cohort study is being conducted among adult patients with COVID-19 in the Greater Toronto Area. Blood samples are collected at baseline (during infection) and 1, 6 and 12 months after diagnosis. Serial antibody titres, isotype, antigen target and viral neutralisation will be assessed. Clinical data will be collected from chart reviews and patient surveys. Host genomes and T-cell and B-cell receptors will be sequenced. Viral genomes will be sequenced to identify viral lineage. Regression models will be used to test associations between antibody response, physiological response, genetic markers and patient outcomes. Pathogenic genomic variants related to disease severity, or negative outcomes will be identified and genome wide association will be conducted. Immune repertoire diversity during infection will be correlated with severity of COVID-19 symptoms and human leucocyte antigen-type associated with SARS-CoV-2 infection. Participants can learn their genome sequencing, antibody and viral sequencing results; patient-reported outcomes of receiving this information will be assessed through surveys and qualitative interviews. ETHICS AND DISSEMINATION: This study was approved by Clinical Trials Ontario Streamlined Ethics Review System (CTO Project ID: 3302) and the research ethics boards at participating hospitals. Study findings will be disseminated through peer-reviewed publications, conference presentations and end-users.

In, but not of, Africa: a divided South Africa faces COVID-19

A feature of the COVID-19 pandemic has been that many ‘First World’ countries have been less able to prevent illnesses and deaths than some in the ‘Third World’. But what if a country is both ‘First’ and ‘Third’ World? This article argues that South Africa is such a country and that its response to COVID-19 has been shaped by this reality. That explains why the African country with the most sophisticated health facilities on the continent has experienced almost as many cases and fatalities as the rest of Africa combined.

Mask shortage during epidemics and pandemics: a scoping review of interventions to overcome limited supply.

OBJECTIVE: To characterise published evidence regarding preclinical and clinical interventions to overcome mask shortages during epidemics and pandemics. DESIGN: Systematic scoping review. SETTINGS: All healthcare settings relevant to epidemics and pandemics. SEARCH STRATEGY: English peer-reviewed studies published from January 1995 to June 2020 were included. Literature was identified using four databases (Medline-OVID, EMBASE, CINAHL, Cochrane Library), forwards-and-backwards searching through Scopus and an extensive grey literature search. Assessment of study eligibility, data extraction and evidence appraisal were performed in duplicate by two independent reviewers. RESULTS: Of the 11 220 database citations, a total of 47 articles were included. These studies encompassed six broad categories of conservation strategies: decontamination, reusability of disposable masks and/or extended wear, layering, reusable respirators, non-traditional replacements or modifications and stockpiled masks. Promising strategies for mask conservation in the context of pandemics and epidemics include use of stockpiled masks, extended wear of disposable masks and decontamination. CONCLUSION: There are promising strategies for overcoming face mask shortages during epidemics and pandemics. Further research specific to practical considerations is required before implementation during the COVID-19 pandemic.