Engaging populations underrepresented in research through novel approaches to consent

The lack of diversity of populations included in genomics databases is an important inhibitor of genomic discovery from bench to bedside. One way to increase the diversity of participants is to ensure that informed consent processes are designed for cultural and linguistic concordance for non-majority populations. This article describes two case studies of genomics research studies that are using novel approaches to informed consent to increase recruitment and retention of participants from traditionally underrepresented populations: The Cancer Health Assessments Reaching Many (CHARM) study, part of the Clinical Sequencing Evidence-Generating Research (CSER) consortium, and the All of Us Research Program, part of the Precision Medicine Initiative. We conclude by proposing a community of practice among researchers seeking to improve informed consent to increase diversity in genomics research.     

Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium

PurposeThere is a critical need for genomic medicine research that reflects and benefits socioeconomically and ancestrally diverse populations. However, disparities in research populations persist, highlighting that traditional study designs and materials may be insufficient or inaccessible to all groups. New approaches can be gained through collaborations with patient/community stakeholders. Although some benefits of stakeholder engagement are recognized, routine incorporation into the design and implementation of genomics research has yet to be realized.MethodsThe National Institutes of Health–funded Clinical Sequencing Evidence-Generating Research (CSER) consortium required stakeholder engagement as a dedicated project component. Each CSER project planned and carried out stakeholder engagement activities with differing goals and expected outcomes. Examples were curated from each project to highlight engagement strategies and outcomes throughout the research lifecycle from development through dissemination.ResultsProjects tailored strategies to individual study needs, logistical constraints, and other challenges. Lessons learned include starting early with engagement efforts across project stakeholder groups and planned flexibility to enable adaptations throughout the project lifecycle.ConclusionEach CSER project used more than 1 approach to engage with relevant stakeholders, resulting in numerous adaptations and tremendous value added throughout the full research lifecycle. Incorporation of community stakeholder insight improves the outcomes and relevance of genomic medicine research.     

Psychiatric genomics research during the COVID‐19 pandemic: A survey of Psychiatric Genomics Consortium researchers

Between April 20, 2020 and June 19, 2020 we conducted a survey of the membership of the Psychiatric Genomics Consortium (PGC) to explore the impact of COVID‐19 on their research and academic careers. A total of 123 individuals responded representing academic ranks from trainee to full professor, tenured and fixed‐term appointments, and all genders. The survey included both quantitative and free text responses. Results revealed considerable concern about the impact of COVID‐19 on research with the greatest concern reported by individuals in nonpermanent positions and female researchers. Concerns about the availability of funding and the impact of the pandemic on career progression were commonly reported by early career researchers. Recommendations for institutions, organizations such as the PGC, as well as individual senior investigators have been provided to ensure that the futures of early career investigators, especially those underrepresented in academic medicine such as women and underrepresented minorities, are not disproportionately disadvantaged by the COVID‐19 pandemic.     

Current perspectives of biomedical waste management in context of COVID-19”

COVID-19 pandemic and it's consequent biomedical waste is an unprecedented challenge worldwide. Biomedical waste generated during COVID-19 patient isolation, testing and care needs special consideration as it challenges the previous notion that only 15–20% of waste can be considered infectious. With establishment of new home quarantine facility, isolation/quarantine centres the chances of general waste getting contaminated with biomedical waste has increased exponentially. Through this systematic review the authors searched for all possible queries raised by different researchers on COVID19 waste management on Pubmed. A summary of all the different issues unique to COVID19 waste was prepared. Guidelines, rules and recommendation given by national and international agencies published till date were taken into account while trying to answer all the above questions raised by different studies. The key step in COVID19 waste management is segregation of biomedical waste from solid waste. Waste generated from COVID19 patients is like any other infectious waste, therefore creating public awareness about the COVID19 waste hazards and segregation at source is highlighted in all guidelines as a recommendation. These guidelines for management of waste generated during diagnostics and treatment of COVID-19 suspected or confirmed patients, are required to be followed in addition to existing practices under regulation. BMWM in COVID-19 context is a public health concern and is both a legal and social responsibility for all stakeholders.     

Caring for older adults during the COVID-19 pandemic

BackgroundElderly patients represent a high-risk group with increased risk of death from COVID-19. Despite the number of published studies, several unmet needs in care for older adults exist.ObjectivesTo discuss unmet needs of COVID-19 in this special population.SourcesA literature review for studies on COVID-19 in elderly patients published between December 2019 and November 2021 was performed. Clinical questions were formulated to guide the literature search. The search was conducted in the MEDLINE database, combining specific search terms. Two reviewers independently conducted the search and selected the studies according to the prespecified clinical questions.ContentElderly patients with COVID-19 have peculiar characteristics. They may have atypical clinical presentation, with no fever and with delirium or neurological manifestations as the most common signs, with potential delayed diagnosis and increased risk of death. The reported fatality rates among elderly patients with COVID-19 are extremely high. Several factors, including comorbidities, atypical presentation, and exclusion from intensive care unit care, contribute to this excess of mortality. Age alone is frequently used as a key factor to exclude the elderly from intensive care, but there is evidence that frailty rather than age better predicts the risk of poor outcome in this category. Durability of vaccine efficacy in the elderly remains debated, and the need for a third booster dose is becoming increasingly evident. Finally, efforts to care for elderly patients who have survived after acute COVID-19 should be implemented, considering the high rates of long COVID sequelae and the risk of longitudinal functional and cognitive decline.ImplicationsWe highlight peculiar aspects of COVID-19 in elderly patients and factors contributing to high risk of poor outcome in this category. We also illuminated gaps in current evidence, suggesting future research directions and underlining the need for further studies on the optimal management of elderly patients with COVID-19.     

Multisystem inflammatory syndrome in children

As the COVID-19 pandemic continues, children can be infected with the virus that causes COVID-19. Clinical symptoms of children with COVID from China, where the disease was first reported, generally were less severe than adults. However, at the end of April 2020 in Europe, it was observed that some children with SARS-CoV-2 infection developed fever, abdominal pain, shock, myocardial insufficiency and they needed to be taken care of in intensive care unit. This new disease has been called multisystem inflammatory syndrome in children (MIS-C). Although the pathogenesis of MIS-C is unclear, it progresses with signs of multiorgan involvement as a result of uncontrolled inflammation of the immune system and even causes death. Therefore, the diagnosis and treatment of patients with MIS-C should be managed quickly. In this review, the pathophysiology, clinical and laboratory findings, diagnostic methods, and treatment regimens of MIS-C were discussed.     

Secondary findings from clinical genomic sequencing: prevalence,patient perspectives,family history assessment,and health-care costs from a multisite study

PurposeClinical sequencing emerging in health care may result in secondary findings (SFs).MethodsSeventy-four of 6240 (1.2%) participants who underwent genome or exome sequencing through the Clinical Sequencing Exploratory Research (CSER) Consortium received one or more SFs from the original American College of Medical Genetics and Genomics (ACMG) recommended 56 gene-condition pair list; we assessed clinical and psychosocial actions.ResultsThe overall adjusted prevalence of SFs in the ACMG 56 genes across the CSER consortium was 1.7%. Initially 32% of the family histories were positive, and post disclosure, this increased to 48%. The average cost of follow-up medical actions per finding up to a 1-year period was $128 (observed, range: $0-$678) and $421 (recommended, range: $141-$1114). Case reports revealed variability in the frequency of and follow-up on medical recommendations patients received associated with each SF gene-condition pair. Participants did not report adverse psychosocial impact associated with receiving SFs; this was corroborated by 18 participant (or parent) interviews. All interviewed participants shared findings with relatives and reported that relatives did not pursue additional testing or care.ConclusionOur results suggest that disclosure of SFs shows little to no adverse impact on participants and adds only modestly to near-term health-care costs; additional studies are needed to confirm these findings.     

Medical genetics education in the midst of the COVID‐19 pandemic: Shared resources

In the midst of the COVID‐19 pandemic, it is appropriate that our focus is on patient care and preparation. However, the genetics community is well poised to fill in the educational gap created by medical students transitioning to limiting patient contact, creation of telemedicine patient care, and online learning modules. Our history of agility in learning and teaching is now only inhibited by the time constraints of current clinical demands on the genetics community. This publication is designed to offer ideas and resources for quickly transitioning our education to meet the current demands in the time of a pandemic. Not only will this allow us to continue our strong history of education, it will enhance our strong commitment to using modern educational techniques and tools to address the genetics workforce issues that have defined the recent past. We have the opportunity to aggressively educate for trainees that now have the capacity to learn, and to lead the way in showing how the genetics community rallies together no matter the challenge.     

Clinical features,therapeutic outcomes,and recovery period of long COVID

To characterize the clinical features of long COVID, 286 patients who received care in our outpatient clinic for long COVID from May to December 2021 were surveyed. The recovery periods of each symptom and the key factors contributing to early recovery were statistically analysed. The median age of the patients was 35.8 years, with 137 men and 149 women. The median number of symptoms was 2.8. The most frequent symptoms were respiratory manifestations (52.1%), followed by fatigue (51.4%). Respiratory symptoms, fatigue, and headache/arthralgia were major complaints in the initial phase, whereas hair loss was a major complaint in the late phase, suggesting that the chief complaint of patients with long COVID may vary temporally. The best treatment outcome was observed for pulmonary symptoms, and hair loss had the worst outcome. COVID-19 severity, the number of manifestations, and the delay in starting treatment exerted a negative effect on the recovery period of long COVID. In addition, the smoking habit was an independent risk factor for slowing the recovery period from long COVID. This study provides insights into the clinical course of each manifestation and therapeutic options with a more certain future of long COVID to meet the unmet medical needs.     

Coronavirus Disease 2019 (COVID-19) in Kenya: Preparedness,response and transmissibility

The world and Kenya face a potential pandemic as the respiratory virus Coronavirus Disease 2019 (COVID-19) affects world populations. Nations have been forced to intervene and issue directions under executive orders to ensure the pandemic is contained. Kenya has reported 110 confirmed COVID-19 cases (as at 2nd April, 2020), three persons have succumbed and 2 people have fully recovered. Most of the affected people had entered/returned to Kenya from different parts of the world. Most of the people who have contracted COVID 19 are between the 16–74 years of age. As a result, since February 2020, Kenya put in place several precautionary measures to mitigate the pandemic in its early stages. However, the economic status of the population of country won't be simple to control COVID 19, if government won't integrate the realistic feasible timely plans. This article highlights the preparedness, response, transmissibility of Covid-19 and proposes intuitions to manage COVID-19 in Kenya. Currently it is clear that since first confirmation to current, the transmission of the COVID-19 is exponentially increasing in Kenya.     

Mitigating Bias in Virtual Interviews for Applicants Who are Underrepresented in Medicine

The COVID 19 pandemic has forced residency programs to consider virtual interview formats that can disproportionately and negatively impact unrepresented in medicine applicants. Diversity is a compelling interest for residency programs. In order to recruit and retain a diverse workforce, programs must recognize the deleterious effect virtual interviews may have on underrepresented in medicine applicants.     

Pandemics and pathology: a reflection on influenza,HIV/AIDS and SARS (COVID-19) pandemic infections

The COVID-19 pandemic has reminded pathologists of our significant roles in the management and understanding of rapidly spreading and dangerous pathogens, from identifying the agent to characterizing the clinical pathology to managing the dead. Cellular pathology – through autopsy - has depicted the main features: viral pneumonitis, acute lung injury, organising pneumonia, secondary bacterial pneumonia, thrombophilia and infarction, and systemic inflammatory response syndrome with multi-organ failure. These are similar to another viral pandemic of the 20th century, H1N1 influenza; but contrast with the second major more complicated pandemic, that of HIV/AIDS. The outcomes of these infections are compared, along with seasonal influenza and SARS-1-CoV disease. Work to be done on COVID-19 includes characterisation of the emerging ‘long COVID’ syndrome, and monitoring the complications of therapies and vaccination programs.     

Analysis of the diagnostic value of serum specific antibody testing for coronavirus disease 2019

The coronavirus disease 2019 (COVID‐19) pandemic has spread to various regions worldwide. As of 27 April 2020, according to real‐time statistics released by the World Health Organization, there have been 84 341 confirmed cases and 4643 deaths in China, with more than 2 979 484 confirmed cases and 206 450 deaths outside China. The detection of antibodies produced during the immune response to severe acute respiratory syndrome coronavirus 2 infections has become an important laboratory method for the diagnosis of COVID‐19. However, at present, a little research on these specific antibodies has been conducted. In this study, a retrospective analysis was used to explore the dynamic changes of serum immunoglobulin M (IgM) and IgG antibody and factors affecting diagnostic efficacy, so as to provide a theoretical basis for clinical diagnosis and treatment.     

The Experiences of Health Care Workers during the COVID-19 Pandemic in Korea: a Qualitative Study

BackgroundDuring the coronavirus disease 2019 (COVID-19) pandemic, health care workers (HCWs) have faced multiple physical and psychological challenges while carrying out their duties. In this study, we examined the experiences of specific groups of HCWs during the pandemic.MethodsFrom 18 November to 30 December 2020, we conducted a qualitative study using semi-structured, face-to-face interviews with four groups of 14 HCWs in three cities (Seoul, Daegu, and Gwangju) in South Korea. The HCWs who participated in the focus groups included physicians, nurses, medical practitioners, and cleaning staff who directly or indirectly cared for patients during the COVID-19 epidemic. Interviews were transcribed verbatim and analyzed using the consensual qualitative research approach.ResultsOur qualitative data analysis revealed four main domains: work-related struggles, personal life-related struggles, psychological stress, and health-related struggles. Health care providers were challenged by working in critical situations and were overwhelmed by heavy workloads, fear of infection, lifestyle changes, and psychological and physical struggles.ConclusionOur findings could serve as a foundation for establishing health care systems and policies that help HCWs cope with occupational stress, thus increasing their ability to adapt to the ongoing COVID-19 pandemic.     

Swinging the pendulum: lessons learned from public discourse concerning hydroxychloroquine and COVID-19

ABSTRACT

Introduction

Several months into the COVID-19 pandemic, safe and effective treatments against this global health disaster have yet to be identified. Clinical research trials around the world are underway testing a wide array of possible medications. In particular, the off-label use of hydroxychloroquine for COVID-19 prophylaxis and treatment has created many unprecedented challenges for the scientific community and the public.     

A survey of informatics approaches to whole-exome and whole-genome clinical reporting in the electronic health record

PurposeGenome-scale clinical sequencing is being adopted more broadly in medical practice. The National Institutes of Health developed the Clinical Sequencing Exploratory Research (CSER) program to guide implementation and dissemination of best practices for the integration of sequencing into clinical care. This study describes and compares the state of the art of incorporating whole-exome and whole-genome sequencing results into the electronic health record, including approaches to decision support across the six current CSER sites.MethodsThe CSER Medical Record Working Group collaboratively developed and completed an in-depth survey to assess the communication of genome-scale data into the electronic health record. We summarized commonalities and divergent approaches.ResultsDespite common sequencing platform (Illumina) adoptions, there is a great diversity of approaches to annotation tools and workflow, as well as to report generation. At all sites, reports are human-readable structured documents available as passive decision support in the electronic health record. Active decision support is in early implementation at two sites.ConclusionThe parallel efforts across CSER sites in the creation of systems for report generation and integration of reports into the electronic health record, as well as the lack of standardized approaches to interfacing with variant databases to create active clinical decision support, create opportunities for cross-site and vendor collaborations.Genet Med15 10, 824–832.     

Loss and Survival: Experiences of Psychoanalytic Psychotherapists Working Remotely During the COVID-19 Pandemic

This paper presents the findings of a research project that explored the experiences of psychoanalytic psychotherapists based in the UK during the first period of lockdown in the COVID 19 pandemic. Groups of therapists met regularly to share and reflect on the impact of the sudden changes to their practice, and this paper pulls together the key themes which emerged from these discussions. The overarching preoccupations of the psychotherapists were those of loss and survival, with sub-themes of difficulty holding the frame; reduced security and safety; challenged analytic technique; and altered relationship dynamics. The groups were highly valued by participants as offering support during times of unprecedented stress, while also providing a forum to learn from and make creative use of the challenges presented by working remotely.     

Impact of COVID-19 on mental health and emotional well-being of older adults

Older adults faced unique challenges in the pandemic due to their increased vulnerability to coronavirus disease 2019 (COVID-19) and its complications. Pandemic-related restrictions such as physical distancing, stay-at-home orders, lock-down, and mandatory face cover affected older adults in unique ways. Additionally, older adults experienced psychosocial concerns related to discrimination based on ageism and emotional distress from exposure to conflicting messages in the media. They experienced several forms of loss and associated grief and survivor guilt. Pandemic added to their loneliness and social isolation. Furthermore, older adults experienced the fear and anxiety related to COVID and the fear of contracting the disease and dying from it. Pandemic experience included events potential to generate the desire and capability for suicide. Several studies report varying symptoms such as loneliness, anxiety, and depression among older adults during the pandemic. However, during the initial months of the pandemic, there were reports on coping and resilience among this population. The impact of COVID-19 on older adults’ mental health may have long-term implications. This narrative review examines the impact of COVID-19 on older adults’ mental health and psychosocial wellbeing. Additionally, the review highlights various factors that affected their psychosocial wellbeing during the COVID-19 pandemic.     

Maternal perceptions of sleep problems among children and mothers during the coronavirus disease 2019 (COVID‐19) pandemic in Israel

Despite the marked impact of the coronavirus disease 2019 (COVID‐19) pandemic on the life of families and its possible negative implications for sleep, little is known about how sleep among parents and children has been impacted by this current crisis. In the present study, we addressed, for the first time, possible consequences of the COVID‐19 crisis and home confinement on maternal anxiety, maternal insomnia, and maternal reports of sleep problems among children aged 6–72 months in Israel (N = 264). Our results revealed a high frequency of maternal clinical insomnia during the COVID‐19 pandemic: 23% during the pandemic, compared to only 11% before the pandemic (retrospective reports about 1–2 months before the pandemic). About 80% of mothers reported mild‐to‐high levels of current COVID‐19 anxiety. The majority of mothers reported no change in their child’s sleep quality, duration, and sleeping arrangement. However, about 30% reported a negative change in child’s sleep quality and a decrease in sleep duration, and there were also mothers who reported a positive change. These findings suggest that the changes in sleep patterns during the COVID‐19 pandemic are varied and that no unified change for the worse should be expected. Further consideration of changes in sleep within the family context during this ongoing crisis is needed.