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Data access committees (DAC) gatekeep access to secured genomic and related health datasets yet are challenged to keep pace with the rising volume and complexity of data generation. Automated decision support (ADS) systems have been shown to support consistency, compliance, and coordination of data access review decisions. However, we lack understanding of how DAC members perceive the value add of ADS, if any, on the quality and effectiveness of their reviews. In this qualitative study, we report findings from 13 semi-structured interviews with DAC members from around the world to identify relevant barriers and facilitators to implementing ADS for genomic data access management. Participants generally supported pilot studies that test ADS performance, for example in cataloging data types, verifying user credentials and tagging datasets for use terms. Concerns related to over-automation, lack of human oversight, low prioritization, and misalignment with institutional missions tempered enthusiasm for ADS among the DAC members we engaged. Tensions for change in institutional settings within which DACs operated was a powerful motivator for why DAC members considered the implementation of ADS into their access workflows, as well as perceptions of the relative advantage of ADS over the status quo. Future research is needed to build the evidence base around the comparative effectiveness and decisional outcomes of institutions that do/not use ADS into their workflows.
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Conjuntos de Dados como Assunto , Técnicas de Apoio para a Decisão , Genômica , Software , Automação , Fluxo de Trabalho , Entrevistas como Assunto , Sistemas de Dados , Conjuntos de Dados como Assunto/legislação & jurisprudência , HumanosRESUMO
PURPOSE: Multiple interventions have been implemented to reduce opioid prescribing in upper extremity surgery. However, few studies have evaluated pain relief and patient satisfaction as related to failure of these protocols. We sought to evaluate the efficacy of limited and nonopioid ("opioid-sparing") regimens for upper extremity surgery as it pertains to patient satisfaction, pain experienced, and need for additional refills/rescue analgesia. METHODS: We aimed to systematically review randomized controlled trials of opioid-sparing approaches in upper extremity surgery. An initial search of studies evaluating opioid-sparing regimens after upper extremity surgery from the elbow distal yielded 1,320 studies, with nine meeting inclusion criteria. Patient demographics, surgery type, postoperative pain regimen, satisfaction measurements, and number of patients inadequately treated within each study were recorded. Outcomes were assessed using descriptive statistics. RESULTS: Nine randomized controlled trials with 1,480 patients were included. Six of nine studies (67%) reported superiority or equivalence of pain relief with nonopioid or limited opioid regimens. However, across all studies, 4.2% to 25% of patients were not adequately treated by the opioid-sparing protocols. This includes four of seven studies (57%) assessing number of medication refills or rescue analgesia reporting increased pill consumption, refills, or rescue dosing with limited/nonopioid regimens. Five of six studies (83%) reporting satisfaction outcomes found no difference in satisfaction with pain control, medication strength, and overall surgical experience using opioid-sparing regimens. CONCLUSIONS: Opioid-sparing regimens provide adequate pain relief for most upper extremity surgery patients. However, a meaningful number of patients on opioid-sparing regimens required greater medication refills and increased use of rescue analgesia. These patients also reported no difference in satisfaction compared with limited/nonopioid regimens. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic II.
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Analgésicos Opioides , Mãos , Dor Pós-Operatória , Satisfação do Paciente , Ensaios Clínicos Controlados Aleatórios como Assunto , Humanos , Dor Pós-Operatória/tratamento farmacológico , Analgésicos Opioides/uso terapêutico , Mãos/cirurgia , Analgésicos não Narcóticos/uso terapêutico , Medição da Dor , Manejo da Dor/métodosRESUMO
Human breath offers several benefits for diagnostic applications, including simple, noninvasive collection. Breath is a rich source of clinically-relevant biological information; this includes a volatile fraction, where greater than 1,000 volatile organic compounds (VOCs) have been described so far, and breath aerosols that carry nucleic acids, proteins, signaling molecules, and pathogens. Many of these factors, especially VOCs, are delivered to the lung by the systemic circulation, and diffusion of candidate biomarkers from blood into breath allows systematic profiling of organismal health. Biomarkers on breath offer the capability to advance early detection and precision medicine in areas of global clinical need. Breath tests are noninvasive and can be performed at home or in a primary care setting, which makes them well-suited for the kind of public screening program that could dramatically improve the early detection of conditions such as lung cancer. Since measurements of VOCs on breath largely report on metabolic changes, this too aids in the early detection of a broader range of illnesses and can be used to detect metabolic shifts that could be targeted through precision medicine. Furthermore, the ability to perform frequent sampling has envisioned applications in monitoring treatment responses. Breath has been investigated in respiratory, liver, gut, and neurological diseases and in contexts as diverse as infectious diseases and cancer. Preclinical research studies using breath have been ongoing for some time, yet only a few breath-based diagnostics tests are currently available and in widespread clinical use. Most recently, tests assessing the gut microbiome using hydrogen and methane on breath, in addition to tests using urea to detect Helicobacter pylori infections have been released, yet there are many more applications of breath tests still to be realized. Here, we discuss the strengths of breath as a clinical sampling matrix and the technical challenges to be addressed in developing it for clinical use. Historically, a lack of standardized methodologies has delayed the discovery and validation of biomarker candidates, resulting in a proliferation of early-stage pilot studies. We will explore how advancements in breath collection and analysis are in the process of driving renewed progress in the field, particularly in the context of gastrointestinal and chronic liver disease. Finally, we will provide a forward-looking outlook for developing the next generation of clinically relevant breath tests and how they may emerge into clinical practice.
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Infecções por Helicobacter , Helicobacter pylori , Compostos Orgânicos Voláteis , Biomarcadores/análise , Testes Respiratórios/métodos , Humanos , Compostos Orgânicos Voláteis/análiseRESUMO
Critically ill patients manifest many of the same immune features seen in coronavirus disease 2019 (COVID-19), including both "cytokine storm" and "immune suppression." However, direct comparisons of molecular and cellular profiles between contemporaneously enrolled critically ill patients with and without severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) are limited. We sought to identify immune signatures specifically enriched in critically ill patients with COVID-19 compared with patients without COVID-19. We enrolled a multisite prospective cohort of patients admitted under suspicion for COVID-19, who were then determined to be SARS-CoV-2-positive (n = 204) or -negative (n = 122). SARS-CoV-2-positive patients had higher plasma levels of CXCL10, sPD-L1, IFN-γ, CCL26, C-reactive protein (CRP), and TNF-α relative to SARS-CoV-2-negative patients adjusting for demographics and severity of illness (Bonferroni P value < 0.05). In contrast, the levels of IL-6, IL-8, IL-10, and IL-17A were not significantly different between the two groups. In SARS-CoV-2-positive patients, higher plasma levels of sPD-L1 and TNF-α were associated with fewer ventilator-free days (VFDs) and higher mortality rates (Bonferroni P value < 0.05). Lymphocyte chemoattractants such as CCL17 were associated with more severe respiratory failure in SARS-CoV-2-positive patients, but less severe respiratory failure in SARS-CoV-2-negative patients (P value for interaction < 0.01). Circulating T cells and monocytes from SARS-CoV-2-positive subjects were hyporesponsive to in vitro stimulation compared with SARS-CoV-2-negative subjects. Critically ill SARS-CoV-2-positive patients exhibit an immune signature of high interferon-induced lymphocyte chemoattractants (e.g., CXCL10 and CCL17) and immune cell hyporesponsiveness when directly compared with SARS-CoV-2-negative patients. This suggests a specific role for T-cell migration coupled with an immune-checkpoint regulatory response in COVID-19-related critical illness.
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COVID-19 , Insuficiência Respiratória , Antígeno B7-H1 , Quimiocinas , Estado Terminal , Humanos , Estudos Prospectivos , SARS-CoV-2 , Fator de Necrose Tumoral alfaRESUMO
BACKGROUND: Analyses of blood biomarkers involved in the host response to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) viral infection can reveal distinct biological pathways and inform development and testing of therapeutics for COVID-19. Our objective was to evaluate host endothelial, epithelial and inflammatory biomarkers in COVID-19. METHODS: We prospectively enrolled 171 ICU patients, including 78 (46%) patients positive and 93 (54%) negative for SARS-CoV-2 infection from April to September, 2020. We compared 22 plasma biomarkers in blood collected within 24 h and 3 days after ICU admission. RESULTS: In critically ill COVID-19 and non-COVID-19 patients, the most common ICU admission diagnoses were respiratory failure or pneumonia, followed by sepsis and other diagnoses. Similar proportions of patients in both groups received invasive mechanical ventilation at the time of study enrollment. COVID-19 and non-COVID-19 patients had similar rates of acute respiratory distress syndrome, severe acute kidney injury, and in-hospital mortality. While concentrations of interleukin 6 and 8 were not different between groups, markers of epithelial cell injury (soluble receptor for advanced glycation end products, sRAGE) and acute phase proteins (serum amyloid A, SAA) were significantly higher in COVID-19 compared to non-COVID-19, adjusting for demographics and APACHE III scores. In contrast, angiopoietin 2:1 (Ang-2:1 ratio) and soluble tumor necrosis factor receptor 1 (sTNFR-1), markers of endothelial dysfunction and inflammation, were significantly lower in COVID-19 (p < 0.002). Ang-2:1 ratio and SAA were associated with mortality only in non-COVID-19 patients. CONCLUSIONS: These studies demonstrate that, unlike other well-studied causes of critical illness, endothelial dysfunction may not be characteristic of severe COVID-19 early after ICU admission. Pathways resulting in elaboration of acute phase proteins and inducing epithelial cell injury may be promising targets for therapeutics in COVID-19.
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COVID-19/sangue , Células Endoteliais/virologia , Células Epiteliais/virologia , Interações entre Hospedeiro e Microrganismos , Inflamação/virologia , Adulto , Idoso , Biomarcadores/sangue , COVID-19/epidemiologia , COVID-19/terapia , Estudos de Casos e Controles , Feminino , Humanos , Inflamação/sangue , Unidades de Terapia Intensiva , Masculino , Pessoa de Meia-Idade , Estudos ProspectivosRESUMO
BACKGROUND: Immunohistochemistry (IHC) is often used in personalisation of cancer treatments. Analysis of large data sets to uncover predictive biomarkers by specialists can be enormously time-consuming. Here we investigated crowdsourcing as a means of reliably analysing immunostained cancer samples to discover biomarkers predictive of cancer survival. METHODS: We crowdsourced the analysis of bladder cancer TMA core samples through the smartphone app 'Reverse the Odds'. Scores from members of the public were pooled and compared to a gold standard set scored by appropriate specialists. We also used crowdsourced scores to assess associations with disease-specific survival. RESULTS: Data were collected over 721 days, with 4,744,339 classifications performed. The average time per classification was approximately 15 s, with approximately 20,000 h total non-gaming time contributed. The correlation between crowdsourced and expert H-scores (staining intensity × proportion) varied from 0.65 to 0.92 across the markers tested, with six of 10 correlation coefficients at least 0.80. At least two markers (MRE11 and CK20) were significantly associated with survival in patients with bladder cancer, and a further three markers showed results warranting expert follow-up. CONCLUSIONS: Crowdsourcing through a smartphone app has the potential to accurately screen IHC data and greatly increase the speed of biomarker discovery.
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Biomarcadores Tumorais/genética , Telefone Celular , Crowdsourcing , Neoplasias da Bexiga Urinária/diagnóstico , Feminino , Humanos , Imuno-Histoquímica , Queratina-20/genética , Proteína Homóloga a MRE11/genética , Masculino , Pessoa de Meia-Idade , Neoplasias da Bexiga Urinária/genética , Neoplasias da Bexiga Urinária/patologiaRESUMO
BACKGROUND: Academic pathology suffers from an acute and growing lack of workforce resource. This especially impacts on translational elements of clinical trials, which can require detailed analysis of thousands of tissue samples. We tested whether crowdsourcing - enlisting help from the public - is a sufficiently accurate method to score such samples. METHODS: We developed a novel online interface to train and test lay participants on cancer detection and immunohistochemistry scoring in tissue microarrays. Lay participants initially performed cancer detection on lung cancer images stained for CD8, and we measured how extending a basic tutorial by annotated example images and feedback-based training affected cancer detection accuracy. We then applied this tutorial to additional cancer types and immunohistochemistry markers - bladder/ki67, lung/EGFR, and oesophageal/CD8 - to establish accuracy compared with experts. Using this optimised tutorial, we then tested lay participants' accuracy on immunohistochemistry scoring of lung/EGFR and bladder/p53 samples. RESULTS: We observed that for cancer detection, annotated example images and feedback-based training both improved accuracy compared with a basic tutorial only. Using this optimised tutorial, we demonstrate highly accurate (>0.90 area under curve) detection of cancer in samples stained with nuclear, cytoplasmic and membrane cell markers. We also observed high Spearman correlations between lay participants and experts for immunohistochemistry scoring (0.91 (0.78, 0.96) and 0.97 (0.91, 0.99) for lung/EGFR and bladder/p53 samples, respectively). CONCLUSIONS: These results establish crowdsourcing as a promising method to screen large data sets for biomarkers in cancer pathology research across a range of cancers and immunohistochemical stains.
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Biomarcadores Tumorais/metabolismo , Crowdsourcing/métodos , Neoplasias/metabolismo , Análise Serial de Tecidos , Pesquisa Translacional Biomédica/métodos , Interpretação Estatística de Dados , Humanos , Processamento de Imagem Assistida por Computador/métodos , Imuno-Histoquímica , Seleção de PacientesAssuntos
Bioética , Justiça Social , Algoritmos , Humanos , Princípios Morais , Justiça Social/éticaRESUMO
BACKGROUND: New federal policies along with rapid growth in data generation, storage, and analysis tools are together driving scientific data sharing in the United States. At the same, triangulating human research data from diverse sources can also create situations where data are used for future research in ways that individuals and communities may consider objectionable. Institutional gatekeepers, namely, signing officials (SOs), are therefore at the helm of compliant management and sharing of human data for research. Of those with data governance responsibilities, SOs most often serve as signatories for investigators who deposit, access, and share research data between institutions. Although SOs play important leadership roles in compliant data sharing, we know surprisingly little about their scope of work, roles, and oversight responsibilities. OBJECTIVE: The purpose of this study was to describe existing institutional policies and practices of US SOs who manage human genomic data access, as well as how these may change in the wake of new Data Management and Sharing requirements for National Institutes of Health-funded research in the United States. METHODS: We administered an anonymous survey to institutional SOs recruited from biomedical research institutions across the United States. Survey items probed where data generated from extramurally funded research are deposited, how researchers outside the institution access these data, and what happens to these data after extramural funding ends. RESULTS: In total, 56 institutional SOs participated in the survey. We found that SOs frequently approve duplicate data deposits and impose stricter access controls when data use limitations are unclear or unspecified. In addition, 21% (n=12) of SOs knew where data from federally funded projects are deposited after project funding sunsets. As a consequence, most investigators deposit their scientific data into "a National Institutes of Health-funded repository" to meet the Data Management and Sharing requirements but also within the "institution's own repository" or a third-party repository. CONCLUSIONS: Our findings inform 5 policy recommendations and best practices for US SOs to improve coordination and develop comprehensive and consistent data governance policies that balance the need for scientific progress with effective human data protections.
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Data access committees (DACs) are critical players in the data sharing ecosystem. DACs review requests for access to data held in one or more repositories and where specific constraints determine how the data may be used and by whom. Our team surveyed DAC members affiliated with genomic data repositories worldwide to understand standard processes and procedures, operational metrics, bottlenecks, and efficiencies, as well as their perspectives on possible improvements to quality review. We found that DAC operations and systemic issues were common across repositories globally. In general, DAC members endeavored to achieve an appropriate balance of review efficiency, quality, and compliance. Our results suggest a similarly proportionate path forward that helps DACs pursue mutual improvements to efficiency and compliance without sacrificing review quality.
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Membro de Comitê , Genoma , Genômica , Inquéritos e QuestionáriosRESUMO
Purpose: To evaluate the biomechanical properties of open versus percutaneous Achilles tendon repair. Methods: A systematic review of original research articles was performed using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. To qualify for study inclusion, articles were required to be published in English, use a laboratory design using either human or animal tissue, and directly compare the biomechanical properties of open Achilles repair using a Krackow or Kessler technique with percutaneous repair using either a locking or nonlocking suture construct. The biomechanical outcomes evaluated were displacement (millimeters) and load to failure (Newtons). Results: Twelve studies met inclusion criteria, including 234 specimens (open: 97, percutaneous locking: 73; percutaneous nonlocking: 64) that underwent primary midsubstance Achilles tendon repair. Pooled analysis demonstrated no statistically significant difference in displacement (P = .240) or load to failure (P = .912) between the open and percutaneous techniques. Among the percutaneous approaches, there was no difference in displacement (P = .109) between the locking and nonlocking tendon repair systems. Conclusions: The results of this study suggest that both open and percutaneous techniques are biomechanically viable approaches for primary midsubstance Achilles tendon repair. Clinical Relevance: In clinical studies, similar rerupture rates have been observed after open or percutaneous Achilles tendon repair. It may be beneficial for surgeons to understand whether biomechanical differences exist between these repair techniques.
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BACKGROUND: Multiligament knee injury (MLKI) is a severe subclass of orthopedic injury and can result in significant functional impairment. Novel MLKI graft constructs such as suture augmentation aim to enhance graft strength and optimize knee stability. The purpose of this study was to present patient-reported outcome measurements of a cohort at a minimum follow-up of 2 years after multiligament knee reconstruction (MLKR) with suture augmentation. MATERIALS AND METHODS: A retrospective chart review was performed to identify patients who underwent MLKR with suture augmentation. Demographic and injury-specific variables were gathered preoperatively and postoperatively. Patients were contacted at a minimum of 2 years postoperatively to collect Patient-Reported Outcomes Measurement Information System, Multiligament Quality of Life, and Lysholm knee scores. RESULTS: Twenty-seven patients underwent MLKR with suture augmentation, with 15 being female (55.6%) and 12 being male (44.4%). The mean pain score was 49.93±9.96, the mean physical function score was 49.56±10.94, and the mean mobility score was 47.56±8.58. The mean physical impairment score was 33.96±23.69, the mean emotional impairment score was 36.55±26.60, the mean activity limitation score was 28.00±25.61, and the mean societal involvement score was 30.09±27.45. The mean Lysholm knee score for the cohort was 67.93±22.36. CONCLUSION: Patients who underwent MLKR with suture augmentation had satisfactory scores across all patient-reported outcome measurements. On the basis of these criteria, the average patient achieved an acceptable clinical outcome, demonstrating that MLKR with suture augmentation is a safe and efficacious surgical technique for the treatment of MLKI. [Orthopedics. 2024;47(4):238-243.].
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Traumatismos do Joelho , Medidas de Resultados Relatados pelo Paciente , Humanos , Masculino , Feminino , Estudos Retrospectivos , Adulto , Traumatismos do Joelho/cirurgia , Pessoa de Meia-Idade , Seguimentos , Suturas , Fita Cirúrgica , Técnicas de Sutura , Ligamentos Articulares/cirurgia , Ligamentos Articulares/lesões , Procedimentos de Cirurgia Plástica/métodos , Articulação do Joelho/cirurgia , Articulação do Joelho/fisiopatologia , Adulto JovemRESUMO
The post-genomic era has produced a variety of new investigation technologies, techniques and approaches that may offer exciting insights into many long-standing questions of scientific research. The microtubule cytoskeleton is a highly conserved system that shows a high degree of internal complexity, is known to be integral to many cell systems and functions on a fundamental level. After decades of study, much is still unknown about microtubules in vivo from the control of dynamics in living cells to their responses to environmental changes and responses to other cellular processes. In the present article, we examine some outstanding questions in the microtubule field and propose a combination of emerging interdisciplinary approaches, i.e. high-throughput functional genomics techniques, quantitative and super-resolution microscopy, and in silico modelling, that could shed light on the systemic regulation of microtubules in cells by networks of regulatory factors. We propose that such an integrative approach is key to elucidate the function of the microtubule cytoskeleton as a complete responsive integral biological system.
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Microtúbulos/metabolismo , Animais , Humanos , Modelos Moleculares , Schizosaccharomyces/citologiaRESUMO
It is widely accepted that large-scale genomic data (e.g., whole-genome sequencing, whole-exome sequencing, and genome-wide association study data) be shared through a controlled-access mechanism. This protects the privacy of research participants and ensures downstream uses of data align with participants' informed consent regarding future sharing of their data. In 2019, GA4GH approved the Data Use Ontology (DUO) standard to define data use terms with machine-readable representations to represent how a dataset can be used. We endeavored to determine the parity of existing data use restrictions ("Data Use Limitations" [DULs]) for datasets registered in the National Institutes of Health database for Genotypes and Phenotypes (dbGaP) with the DUO standard. We found substantial (93%) parity between the dbGaP DULs (n = 3,575) and DUO. This study demonstrates the comprehensiveness of the DUO standard and encourages data stewards to standardize data use restrictions in machine-readable formats to facilitate data sharing.
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Purpose: We sought to investigate the role of prophylactic antibiotics for distal fingertip crush injury or transphalangeal amputation treated outside of an operating room and better understand the factors that contribute to antibiotic-prescribing decisions. We hypothesized that prophylactic antibiotics do not meaningfully reduce the incidence of infection and that antibiotics are prescribed in a predictable way. Methods: This is a retrospective review of all patients treated in a MedStar-affiliated emergency department or urgent care for nonsurgical distal fingertip trauma in 2019. Patient demographics, comorbidities, injury characteristics, interventions, and follow-up details were recorded. Exclusion criteria included signs of infection at the time of presentation, minor injuries not requiring intervention, bite wounds, one-time intravenous antibiotic administration without oral course, and surgical intervention. Outcomes included infection and interventions at follow-up. Chi-square analysis was performed, comparing antibiotic and no-antibiotic groups. A stepwise binomial regression was used to evaluate for variables predictive of antibiotic prescription. Results: We identified eight infections in 323 patients included in the study (2.5% incidence of infection). There was no statistically significant difference in the incidence of infection between patients treated with antibiotics (2.7%) and those who did not receive antibiotics (2.2%). However, due to the low incidence of infections, we were likely underpowered for this analysis. We also created a model to predict antibiotic prescribing, which achieved an area under the receiver operating characteristic curve of 0.86 (P < .0001) based on age, bleeding disorders, depressive disorders, open wound status, amputation, fractures, and encounter type. Conclusions: The low incidence of infection (2.5%) and lack of a meaningful difference between the groups call into question prophylactic antibiotic prescribing after these distal fingertip injuries. Our model does predict provider prescribing habits, identifying areas for potential practice pattern change. Type of study/level of evidence: Therapeutic III.
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Background: Although several complications of proximal hamstring tendon ruptures have been reported in the literature, few studies have comprehensively analyzed the complication profile of proximal hamstring tendon repair. Purpose: To identify the overall rate of complications following proximal hamstring tendon repair and to differentiate these complications into categories. Study Design: Systematic review; Level of evidence, 4. Methods: Included in this review were studies that examined surgical repair of proximal hamstring tendon ruptures; all studies were in English and had an evidence level of 4 or higher. No restrictions were made regarding publication date or methodological quality. Data regarding complications were extracted to calculate the overall complication rate as well as the rate of major and minor complications. A quantitative data synthesis was conducted using the chi-square test to compare the proportion of patients who experienced complications with the endoscopic versus open approach. Results: A total of 43 articles including 2833 proximal hamstring tendon repairs were identified. The overall postoperative complication rate was 15.3% (n = 433). The rate of major complications was 4.6%, including a 1.7% rate of sciatic nerve injury, 0.8% rate of venous thromboembolism, 0.8% reoperation rate, 0.8% rerupture rate, and 0.4% rate of deep infection. Minor complications included a 2.4% rate of posterior femoral cutaneous nerve injury, 2.3% rate of persistent hamstring myopathy, 2.2% rate of persistent sitting pain, 1.8% rate of peri-incisional numbness, 1.1% rate of superficial infection, and 0.8% rate of hematoma/seroma. Conclusion: Proximal hamstring tendon repair is associated with an overall complication rate of 15.3%, including a 4.6% rate of major complications.
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With the continued presence of COVID-19 worldwide, it has been a challenge for the breath research community to progress with clinical studies and travel restrictions have also limited the opportunities to meet up, share ideas and celebrate the latest advances. The Breath Biopsy Conference 2021 offered the chance to catch up with the latest breath research and to share progress that researchers in the community have been able to make in these difficult times. Limited opportunities for clinical research have led many in the field to look more closely at different methods for breath collection and have contributed to the growing calls for consistent standards in how results are reported, shared and even how breath studies themselves are carried out. As such, standardization was a key theme for this year's event and featured prominently in the keynotes, discussions and throughout many of the presentations. With over 900 registrants, almost 400 live attendees and 16 speakers, the Breath Biopsy Conference continues to bring together breath research leaders from around the world. This article provides an overview of the highlights from this event.
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Testes Respiratórios , COVID-19 , Biópsia , Humanos , Reprodutibilidade dos TestesRESUMO
Studies on the ethics of automating clinical or research decision making using artificial intelligence and other algorithmic tools abound. Less attention has been paid, however, to the scope for, and ethics of, automating decision making within regulatory apparatuses governing the access, use, and exchange of data involving humans for research. In this article, we map how the binary logic flows and real-time capabilities of automated decision support (ADS) systems may be leveraged to accelerate one rate-limiting step in scientific discovery: data access management. We contend that improved auditability, consistency, and efficiency of the data access request process using ADS systems have the potential to yield fairer outcomes in requests for data largely sourced from biospecimens and biobanked samples. This procedural justice rationale reinforces a broader set of participant and data subject rights that data access committees (DACs) indirectly protect. DACs protect the rights of citizens to benefit from science by bringing researchers closer to the data they need to advance that science. DACs also protect the informational dignities of individuals and communities by ensuring the data being accessed are used in ways consistent with participant values. We discuss the development of the Global Alliance for Genomics and Health Data Use Ontology standard as a test case of ADS for genomic data access management specifically, and we synthesize relevant ethical, legal, and social challenges to its implementation in practice. We conclude with an agenda of future research needed to thoughtfully advance strategies for computational governance that endeavor to instill public trust in, and maximize the scientific value of, health-related human data across data types, environments, and user communities.
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Inteligência Artificial , Genômica , Humanos , Fluxo de Trabalho , PesquisadoresRESUMO
The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL; https://anvilproject.org) was developed to address a widespread community need for a unified computing environment for genomics data storage, management, and analysis. In this perspective, we present AnVIL, describe its ecosystem and interoperability with other platforms, and highlight how this platform and associated initiatives contribute to improved genomic data sharing efforts. The AnVIL is a federated cloud platform designed to manage and store genomics and related data, enable population-scale analysis, and facilitate collaboration through the sharing of data, code, and analysis results. By inverting the traditional model of data sharing, the AnVIL eliminates the need for data movement while also adding security measures for active threat detection and monitoring and provides scalable, shared computing resources for any researcher. We describe the core data management and analysis components of the AnVIL, which currently consists of Terra, Gen3, Galaxy, RStudio/Bioconductor, Dockstore, and Jupyter, and describe several flagship genomics datasets available within the AnVIL. We continue to extend and innovate the AnVIL ecosystem by implementing new capabilities, including mechanisms for interoperability and responsible data sharing, while streamlining access management. The AnVIL opens many new opportunities for analysis, collaboration, and data sharing that are needed to drive research and to make discoveries through the joint analysis of hundreds of thousands to millions of genomes along with associated clinical and molecular data types.
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The global outbreak of Sars-CoV-2 commencing early in 2020 had a dramatic impact on breath research, imposing abrupt restrictions but also presenting unforeseen opportunities. Taking place against the background of the COVID-19 pandemic, the 2020 Breath Biopsy Conference provided the breath research community with a platform to showcase and discuss the latest findings, including COVID-19 related research. As with most conferences under the present circumstance, it differed from its predecessor meetings by shifting to a virtual format, but retained its broad scope and interactive nature. The conference centred on four key themes, featuring applications of volatile organic compounds, breath biomarkers for liver disease, study design and data analytics, and, notably this year, breath-based endeavours to detect COVID-19 infection. This meeting report summarizes the events of the conference and spotlights selected contributions.