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1.
J Genet Couns ; 30(6): 1591-1597, 2021 12.
Artigo em Inglês | MEDLINE | ID: mdl-33881185

RESUMO

Our work evaluates the contributions of a genetics clinic visit in assessing patients' risk of hereditary cancers and in meeting National Cancer Comprehensive Network (NCCN) criteria for genetic testing. We reviewed the electronic health records (EHR) of 56 women seen for medical care in our healthcare system who were subsequently seen in the Adult Genetics Clinic. We searched for all personal or family cancer history available in either free-text or structured form within the EHR prior to the genetics visit. For each patient, we then compared the aggregate data with the pedigree information obtained at the Genetics Clinic visit for first-, second-, and third-degree relatives. During the genetics clinic visit, the number of relatives with cancer diagnoses doubled from 121 to 235, and for 17 of 56 (30%) of patients, family histories changed one or more NCCN criteria. For 39/56 (70%) of patients, the family history in the EHR was not changed during the genetics clinic visit. Of 56 women referred to the genetics clinic, 45 (80%) met NCCN guidelines for testing, 40 women underwent genetic testing, and 9 of 40 (23%) tested were positive for a Likely Pathogenic or Pathogenic (LP/P) variant. This study of 56 women quantitatively demonstrates the value of a genetics clinic visit by improved identification of key family history components.


Assuntos
Neoplasias da Mama , Neoplasias Ovarianas , Adulto , Neoplasias da Mama/diagnóstico , Neoplasias da Mama/genética , Carcinoma Epitelial do Ovário/genética , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Neoplasias Ovarianas/genética , Linhagem
2.
J Med Internet Res ; 23(10): e30165, 2021 10 06.
Artigo em Inglês | MEDLINE | ID: mdl-34612825

RESUMO

BACKGROUND: Hospital progress notes can serve as an important communication tool. However, they are criticized for their length, preserved content, and for the time physicians spend writing them. OBJECTIVE: We aimed to describe hospital progress note content, writing and reading practices, and the preferences of those who create and read them prior to the implementation of a new electronic health record system. METHODS: Using a sample of hospital progress notes from 1000 randomly selected admissions, we measured note length, similarity of content in successive daily notes for the same patient, the time notes were signed and read, and who read them. We conducted focus group sessions with note writers, readers, and clinical leaders to understand their preferences. RESULTS: We analyzed 4938 inpatient progress notes from 418 authors. The average length was 886 words, and most were in the Assessment & Plan note section. A total of 29% of notes (n=1432) were signed after 4 PM. Notes signed later in the day were read less often. Notes were highly similar from one day to the next, and 26% (23/88) had clinical risk associated with the preserved content. Note content of the highest value varied according to the reader's professional role. CONCLUSIONS: Progress note length varied widely. Notes were often signed late in the day when they were read less often and were highly similar to the note from the previous day. Measuring note length, signing time, when and by whom notes are read, and the amount and safety of preserved content will be useful metrics for measuring how the new electronic health record system is used, and can aid improvements.


Assuntos
Médicos , Leitura , Documentação , Registros Eletrônicos de Saúde , Eletrônica , Humanos , Redação
3.
J Med Internet Res ; 23(11): e29951, 2021 11 08.
Artigo em Inglês | MEDLINE | ID: mdl-34747710

RESUMO

BACKGROUND: Secure patient portals are widely available, and patients use them to view their electronic health records, including their clinical notes. We conducted experiments asking them to cogenerate notes with their clinicians, an intervention called OurNotes. OBJECTIVE: This study aims to assess patient and provider experiences and attitudes after 12 months of a pilot intervention. METHODS: Before scheduled primary care visits, patients were asked to submit a word-constrained, unstructured interval history and an agenda for what they would like to discuss at the visit. Using site-specific methods, their providers were invited to incorporate the submissions into notes documenting the visits. Sites served urban, suburban, and rural patients in primary care practices in 4 academic health centers in Boston (Massachusetts), Lebanon (New Hampshire), Denver (Colorado), and Seattle (Washington). Each practice offered electronic access to visit notes (open notes) to its patients for several years. A mixed methods evaluation used tracking data and electronic survey responses from patients and clinicians. Participants were 174 providers and 1962 patients who submitted at least 1 previsit form. We asked providers about the usefulness of the submissions, effects on workflow, and ideas for the future. We asked patients about difficulties and benefits of providing the requested information and ideas for future improvements. RESULTS: Forms were submitted before 9.15% (5365/58,652) eligible visits, and 43.7% (76/174) providers and 26.76% (525/1962) patients responded to the postintervention evaluation surveys; 74 providers and 321 patients remembered receiving and completing the forms and answered the survey questions. Most clinicians thought interim patient histories (69/74, 93%) and patient agendas (72/74, 97%) as good ideas, 70% (52/74) usually or always incorporated them into visit notes, 54% (40/74) reported no change in visit length, and 35% (26/74) thought they saved time. Their most common suggestions related to improving notifications when patient forms were received, making it easier to find the form and insert it into the note, and educating patients about how best to prepare their submissions. Patient respondents were generally well educated, most found the history (259/321, 80.7%) and agenda (286/321, 89.1%) questions not difficult to answer; more than 92.2% (296/321) thought sending answers before the visit a good idea; 68.8% (221/321) thought the questions helped them prepare for the visit. Common suggestions by patients included learning to write better answers and wanting to know that their submissions were read by their clinicians. At the end of the pilot, all participating providers chose to continue the OurNotes previsit form, and sites considered expanding the intervention to more clinicians and adapting it for telemedicine visits. CONCLUSIONS: OurNotes interests patients, and providers experience it as a positive intervention. Participation by patients, care partners, clinicians, and electronic health record experts will facilitate further development.


Assuntos
Portais do Paciente , Telemedicina , Registros Eletrônicos de Saúde , Humanos , Atenção Primária à Saúde , Inquéritos e Questionários
4.
J Med Internet Res ; 22(9): e21562, 2020 09 10.
Artigo em Inglês | MEDLINE | ID: mdl-32791492

RESUMO

BACKGROUND: Accurately assessing the regional activity of diseases such as COVID-19 is important in guiding public health interventions. Leveraging electronic health records (EHRs) to monitor outpatient clinical encounters may lead to the identification of emerging outbreaks. OBJECTIVE: The aim of this study is to investigate whether excess visits where the word "cough" was present in the EHR reason for visit, and hospitalizations with acute respiratory failure were more frequent from December 2019 to February 2020 compared with the preceding 5 years. METHODS: A retrospective observational cohort was identified from a large US health system with 3 hospitals, over 180 clinics, and 2.5 million patient encounters annually. Data from patient encounters from July 1, 2014, to February 29, 2020, were included. Seasonal autoregressive integrated moving average (SARIMA) time-series models were used to evaluate if the observed winter 2019/2020 rates were higher than the forecast 95% prediction intervals. The estimated excess number of visits and hospitalizations in winter 2019/2020 were calculated compared to previous seasons. RESULTS: The percentage of patients presenting with an EHR reason for visit containing the word "cough" to clinics exceeded the 95% prediction interval the week of December 22, 2019, and was consistently above the 95% prediction interval all 10 weeks through the end of February 2020. Similar trends were noted for emergency department visits and hospitalizations starting December 22, 2019, where observed data exceeded the 95% prediction interval in 6 and 7 of the 10 weeks, respectively. The estimated excess over the 3-month 2019/2020 winter season, obtained by either subtracting the maximum or subtracting the average of the five previous seasons from the current season, was 1.6 or 2.0 excess visits for cough per 1000 outpatient visits, 11.0 or 19.2 excess visits for cough per 1000 emergency department visits, and 21.4 or 39.1 excess visits per 1000 hospitalizations with acute respiratory failure, respectively. The total numbers of excess cases above the 95% predicted forecast interval were 168 cases in the outpatient clinics, 56 cases for the emergency department, and 18 hospitalized with acute respiratory failure. CONCLUSIONS: A significantly higher number of patients with respiratory complaints and diseases starting in late December 2019 and continuing through February 2020 suggests community spread of SARS-CoV-2 prior to established clinical awareness and testing capabilities. This provides a case example of how health system analytics combined with EHR data can provide powerful and agile tools for identifying when future trends in patient populations are outside of the expected ranges.


Assuntos
Tosse/epidemiologia , Insuficiência Respiratória/epidemiologia , Doença Aguda , Adulto , Instituições de Assistência Ambulatorial , Betacoronavirus , COVID-19 , California/epidemiologia , Infecções por Coronavirus , Registros Eletrônicos de Saúde , Serviço Hospitalar de Emergência , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias , Pneumonia Viral , Estudos Retrospectivos , SARS-CoV-2 , Estações do Ano
6.
J Med Internet Res ; 21(5): e13876, 2019 05 06.
Artigo em Inglês | MEDLINE | ID: mdl-31066717

RESUMO

BACKGROUND: Following a 2010-2011 pilot intervention in which a limited sample of primary care doctors offered their patients secure Web-based portal access to their office visit notes, the participating sites expanded OpenNotes to nearly all clinicians in primary care, medical, and surgical specialty practices. OBJECTIVE: The aim of this study was to examine the ongoing experiences and perceptions of patients who read ambulatory visit notes written by a broad range of doctors, nurses, and other clinicians. METHODS: A total of 3 large US health systems in Boston, Seattle, and rural Pennsylvania conducted a Web-based survey of adult patients who used portal accounts and had at least 1 visit note available in a recent 12-month period. The main outcome measures included patient-reported behaviors and their perceptions concerning benefits versus risks. RESULTS: Among 136,815 patients who received invitations, 21.68% (29,656/136,815) responded. Of the 28,782 patient respondents, 62.82% (18,081/28,782) were female, 72.90% (20,982/28,782) were aged 45 years or older, 76.94% (22,146/28,782) were white, and 14.30% (4115/28,782) reported fair or poor health. Among the 22,947 who reported reading 1 or more notes, 3 out of 4 reported reading them for 1 year or longer, half reported reading at least 4 notes, and 37.74% (8588/22,753) shared a note with someone else. Patients rated note reading as very important for helping take care of their health (16,354/22,520, 72.62%), feeling in control of their care (15,726/22,515, 69.85%), and remembering the plan of care (14,821/22,516, 65.82%). Few were very confused (737/22,304, 3.3%) or more worried (1078/22,303, 4.83%) after reading notes. About a third reported being encouraged by their clinicians to read notes and a third told their clinicians they had read them. Less educated, nonwhite, older, and Hispanic patients, and individuals who usually did not speak English at home, were those most likely to report major benefits from note reading. Nearly all respondents (22,593/22,947, 98.46%) thought Web-based access to visit notes a good idea, and 62.38% (13,427/21,525) rated this practice as very important for choosing a future provider. CONCLUSIONS: In this first large-scale survey of patient experiences with a broad range of clinicians working in practices in which shared notes are well established, patients find note reading very important for their health management and share their notes frequently with others. Patients are rarely troubled by what they read, and those traditionally underserved in the United States report particular benefit. However, fewer than half of clinicians and patients actively address their shared notes during visits. As the practice continues to spread rapidly in the United States and internationally, our findings indicate that OpenNotes brings benefits to patients that largely outweigh the risks.


Assuntos
Registros Eletrônicos de Saúde/tendências , Acesso dos Pacientes aos Registros/tendências , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pacientes Ambulatoriais , Estados Unidos
7.
J Biomed Inform ; 77: 91-96, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29233669

RESUMO

We describe the development and design of a smartphone app-based system to create inpatient progress notes using voice, commercial automatic speech recognition software, with text processing to recognize spoken voice commands and format the note, and integration with a commercial EHR. This new system fits hospital rounding workflow and was used to support a randomized clinical trial testing whether use of voice to create notes improves timeliness of note availability, note quality, and physician satisfaction with the note creation process. The system was used to create 709 notes which were placed in the corresponding patient's EHR record. The median time from pressing the Send button to appearance of the formatted note in the Inbox was 8.8 min. It was generally very reliable, accepted by physician users, and secure. This approach provides an alternative to use of keyboard and templates to create progress notes and may appeal to physicians who prefer voice to typing.


Assuntos
Documentação/métodos , Registros Eletrônicos de Saúde/organização & administração , Aplicativos Móveis/normas , Interface para o Reconhecimento da Fala , Confiabilidade dos Dados , Documentação/tendências , Registros Eletrônicos de Saúde/tendências , Humanos , Prontuários Médicos , Médicos , Padrões de Prática Médica , Interface Usuário-Computador , Fluxo de Trabalho
9.
J Biomed Inform ; 46(2): 354-62, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23354284

RESUMO

Communication of follow-up recommendations when abnormalities are identified on imaging studies is prone to error. The absence of an automated system to identify and track radiology recommendations is an important barrier to ensuring timely follow-up of patients especially with non-acute incidental findings on imaging examinations. In this paper, we present a text processing pipeline to automatically identify clinically important recommendation sentences in radiology reports. Our extraction pipeline is based on natural language processing (NLP) and supervised text classification methods. To develop and test the pipeline, we created a corpus of 800 radiology reports double annotated for recommendation sentences by a radiologist and an internist. We ran several experiments to measure the impact of different feature types and the data imbalance between positive and negative recommendation sentences. Our fully statistical approach achieved the best f-score 0.758 in identifying the critical recommendation sentences in radiology reports.


Assuntos
Algoritmos , Informática Médica/métodos , Processamento de Linguagem Natural , Interpretação de Imagem Radiográfica Assistida por Computador , Sistemas de Informação em Radiologia , Bases de Dados Factuais , Humanos
10.
JAMIA Open ; 6(4): ooad099, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38033784

RESUMO

Objectives: We describe an automated transcription system that addresses many documentation problems and fits within scheduled clinical hours. Materials and methods: During visits, the provider listens to the patient while maintaining eye contact and making brief notes on paper. Immediately after the visit conclusion and before the next, the provider makes a short voice recording on a smartphone which is transmitted to the system. The system uses a public domain general language model, and a hypertuned provider-specific language model that is iteratively refined as each produced note is edited by the physician, followed by final automated processing steps to add any templated text to the note. Results: The provider leaves the clinic having completed all voice files, median duration 3.4 minutes. Created notes are formatted as preferred and are a median of 363 words (range 125-1175). Discussion: This approach permits documentation to occur almost entirely within scheduled clinic hours, without copy-forward errors, and without interference with patient-provider interaction. Conclusion: Though no documentation method is likely to appeal to all, this approach may appeal to many physicians and avoid many current problems with documentation.

11.
Appl Clin Inform ; 14(2): 254-257, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36990457

RESUMO

The patient's voice, which we define as the words the patient uses found in notes and messages and other sources, and their preferences for care and its outcomes, is too small a part of the electronic health record (EHR). To address this shortcoming will require innovation, research, funding, perhaps architectural changes to commercial EHRs, and that we address barriers that have resulted in this state, including clinician burden and financial drivers for care. Advantages to greater patient voice may accrue to many groups of EHR users and to patients themselves. For clinicians, the patient's voice, including symptoms, is invaluable in identifying new serious illness that cannot be detected by screening tests, and as an aid to accurate diagnosis. Informaticians benefit from greater patient voice in the EHR because it provides clues not found elsewhere that aid diagnostic decision support, predictive analytics, and machine learning. Patients benefit when their treatment priorities and care outcomes considered in treatment decisions. What patient voice there is in the EHR today can be found in locations not usually used by researchers. Increasing the patient voice needs be accomplished in equitable ways available to people with less access to technology and whose primary language is not well supported by EHR tools and portals. Use of direct quotations, while carrying potential for harm, permits the voice to be recorded unfiltered. If you are a researcher or innovator, collaborate with patient groups and clinicians to create new ways to capture the patient voice, and to leverage it for good.


Assuntos
Registros Eletrônicos de Saúde , Pacientes , Humanos
12.
JAMA Netw Open ; 6(2): e230191, 2023 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-36809468

RESUMO

Importance: Earlier detection of emerging novel SARS-COV-2 variants is important for public health surveillance of potential viral threats and for earlier prevention research. Artificial intelligence may facilitate early detection of SARS-CoV2 emerging novel variants based on variant-specific mutation haplotypes and, in turn, be associated with enhanced implementation of risk-stratified public health prevention strategies. Objective: To develop a haplotype-based artificial intelligence (HAI) model for identifying novel variants, including mixture variants (MVs) of known variants and new variants with novel mutations. Design, Setting, and Participants: This cross-sectional study used serially observed viral genomic sequences globally (prior to March 14, 2022) to train and validate the HAI model and used it to identify variants arising from a prospective set of viruses from March 15 to May 18, 2022. Main Outcomes and Measures: Viral sequences, collection dates, and locations were subjected to statistical learning analysis to estimate variant-specific core mutations and haplotype frequencies, which were then used to construct an HAI model to identify novel variants. Results: Through training on more than 5 million viral sequences, an HAI model was built, and its identification performance was validated on an independent validation set of more than 5 million viruses. Its identification performance was assessed on a prospective set of 344 901 viruses. In addition to achieving an accuracy of 92.8% (95% CI within 0.1%), the HAI model identified 4 Omicron MVs (Omicron-Alpha, Omicron-Delta, Omicron-Epsilon, and Omicron-Zeta), 2 Delta MVs (Delta-Kappa and Delta-Zeta), and 1 Alpha-Epsilon MV, among which Omicron-Epsilon MVs were most frequent (609/657 MVs [92.7%]). Furthermore, the HAI model found that 1699 Omicron viruses had unidentifiable variants given that these variants acquired novel mutations. Lastly, 524 variant-unassigned and variant-unidentifiable viruses carried 16 novel mutations, 8 of which were increasing in prevalence percentages as of May 2022. Conclusions and Relevance: In this cross-sectional study, an HAI model found SARS-COV-2 viruses with MV or novel mutations in the global population, which may require closer examination and monitoring. These results suggest that HAI may complement phylogenic variant assignment, providing additional insights into emerging novel variants in the population.


Assuntos
Inteligência Artificial , COVID-19 , Humanos , Estudos Transversais , Haplótipos , Estudos Prospectivos , RNA Viral , SARS-CoV-2 , Mutação
13.
J Med Internet Res ; 14(3): e80, 2012 Jun 14.
Artigo em Inglês | MEDLINE | ID: mdl-22698679

RESUMO

BACKGROUND: Information technology can help individuals to change their health behaviors. This is due to its potential for dynamic and unbiased information processing enabling users to monitor their own progress and be informed about risks and opportunities specific to evolving contexts and motivations. However, in many behavior change interventions, information technology is underused by treating it as a passive medium focused on efficient transmission of information and a positive user experience. OBJECTIVE: To conduct an interdisciplinary literature review to determine the extent to which the active technological capabilities of dynamic and adaptive information processing are being applied in behavior change interventions and to identify their role in these interventions. METHODS: We defined key categories of active technology such as semantic information processing, pattern recognition, and adaptation. We conducted the literature search using keywords derived from the categories and included studies that indicated a significant role for an active technology in health-related behavior change. In the data extraction, we looked specifically for the following technology roles: (1) dynamic adaptive tailoring of messages depending on context, (2) interactive education, (3) support for client self-monitoring of behavior change progress, and (4) novel ways in which interventions are grounded in behavior change theories using active technology. RESULTS: The search returned 228 potentially relevant articles, of which 41 satisfied the inclusion criteria. We found that significant research was focused on dialog systems, embodied conversational agents, and activity recognition. The most covered health topic was physical activity. The majority of the studies were early-stage research. Only 6 were randomized controlled trials, of which 4 were positive for behavior change and 5 were positive for acceptability. Empathy and relational behavior were significant research themes in dialog systems for behavior change, with many pilot studies showing a preference for those features. We found few studies that focused on interactive education (3 studies) and self-monitoring (2 studies). Some recent research is emerging in dynamic tailoring (15 studies) and theoretically grounded ontologies for automated semantic processing (4 studies). CONCLUSIONS: The potential capabilities and risks of active assistance technologies are not being fully explored in most current behavior change research. Designers of health behavior interventions need to consider the relevant informatics methods and algorithms more fully. There is also a need to analyze the possibilities that can result from interaction between different technology components. This requires deep interdisciplinary collaboration, for example, between health psychology, computer science, health informatics, cognitive science, and educational methodology.


Assuntos
Terapia Comportamental , Comportamentos Relacionados com a Saúde , Tecnologia Assistiva , Humanos
14.
Health Serv Res Manag Epidemiol ; 9: 23333928221080336, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35198655

RESUMO

INTRODUCTION/OBJECTIVES: We examined an initial step towards co-generation of clinic notes by inviting patients to complete a pre-visit questionnaire that could be inserted into clinic notes by providers and describe the experience in a safety-net and non-safety-net clinic. METHODS: We sent an electronic pre-visit questionnaire on visit goals and interim history to patients at a safety-net clinic and a non-safety-net clinic before clinic visits. We compared questionnaire utilization between clinics during a one-year period and performed a chart review of a sample of patients to examine demographics, content and usage of patient responses to the questionnaire. RESULTS: While use was low in both clinics, it was lower in the safety-net clinic (3%) compared to the non-safety-net clinic (10%). We reviewed a sample of respondents and found they were more likely to be White compared to the overall clinic populations (p < 0.05). There were no statistically significant differences in patient-typed notes (word count and number of visit goals) between the safety-net and non-safety-net samples however, patients at the safety-net clinic were less likely to have all of their goals addressed within the PCP documentation, compared to the non-safety-net clinic. CONCLUSIONS: Given potential benefits of this questionnaire as a communication tool, addressing barriers to use of technology among vulnerable patients is needed, including access to devices and internet, and support from caregivers or culturally concordant peer navigators.

15.
Res Sq ; 2022 Feb 25.
Artigo em Inglês | MEDLINE | ID: mdl-35233566

RESUMO

Extensive mutations in the Omicron spike protein appear to accelerate the transmission of SARS-CoV-2, and rapid infections increase the odds that additional mutants will emerge. To build an investigative framework, we have applied an unsupervised machine learning approach to 4296 Omicron viral genomes collected and deposited to GISAID as of December 14, 2021, and have identified a core haplotype of 28 polymutants (A67V, T95I, G339D, R346K, S371L, S373P, S375F, K417N, N440K, G446S, S477N, T478K, E484A, Q493R, G496S, Q498R, N501Y, Y505H, T547K, D614G, H655Y, N679K, P681H, N764K, K796Y, N856K, Q954H, N69K, L981F) in the spike protein and a separate core haplotype of 17 polymutants in non-spike genes: (K38, A1892) in nsp3, T492 in nsp4, (P132, V247, T280, S284) in 3C-like proteinase, I189 in nsp6, P323 in RNA-dependent RNA polymerase, I42 in Exonuclease, T9 in envelope protein, (D3, Q19, A63) in membrane glycoprotein, and (P13, R203, G204) in nucleocapsid phosphoprotein. Using these core haplotypes as reference, we have identified four newly emerging polymutants (R346, A701, I1081, N1192) in the spike protein (p-value=9.37*10 -4 , 1.0*10 -15 , 4.76*10 -7 and 1.56*10 -4 , respectively), and five additional polymutants in non-spike genes (D343G in nucleocapsid phosphoprotein, V1069I in nsp3, V94A in nsp4, F694Y in the RNA-dependent RNA polymerase and L106L/F of ORF3a) that exhibit significant increasing trajectories (all p-values < 1.0*10 -15 ). In the absence of relevant clinical data for these newly emerging mutations, it is important to monitor them closely. Two emerging mutations may be of particular concern: the N1192S mutation in spike protein locates in an extremely highly conserved region of all human coronaviruses that is integral to the viral fusion process, and the F694Y mutation in the RNA polymerase may induce conformational changes that could impact Remdesivir binding.

16.
Sci Rep ; 12(1): 19089, 2022 11 09.
Artigo em Inglês | MEDLINE | ID: mdl-36352021

RESUMO

Extensive mutations in the Omicron spike protein appear to accelerate the transmission of SARS-CoV-2, and rapid infections increase the odds that additional mutants will emerge. To build an investigative framework, we have applied an unsupervised machine learning approach to 4296 Omicron viral genomes collected and deposited to GISAID as of December 14, 2021, and have identified a core haplotype of 28 polymutants (A67V, T95I, G339D, R346K, S371L, S373P, S375F, K417N, N440K, G446S, S477N, T478K, E484A, Q493R, G496S, Q498R, N501Y, Y505H, T547K, D614G, H655Y, N679K, P681H, N764K, K796Y, N856K, Q954H, N69K, L981F) in the spike protein and a separate core haplotype of 17 polymutants in non-spike genes: (K38, A1892) in nsp3, T492 in nsp4, (P132, V247, T280, S284) in 3C-like proteinase, I189 in nsp6, P323 in RNA-dependent RNA polymerase, I42 in Exonuclease, T9 in envelope protein, (D3, Q19, A63) in membrane glycoprotein, and (P13, R203, G204) in nucleocapsid phosphoprotein. Using these core haplotypes as reference, we have identified four newly emerging polymutants (R346, A701, I1081, N1192) in the spike protein (p value = 9.37*10-4, 1.0*10-15, 4.76*10-7 and 1.56*10-4, respectively), and five additional polymutants in non-spike genes (D343G in nucleocapsid phosphoprotein, V1069I in nsp3, V94A in nsp4, F694Y in the RNA-dependent RNA polymerase and L106L/F of ORF3a) that exhibit significant increasing trajectories (all p values < 1.0*10-15). In the absence of relevant clinical data for these newly emerging mutations, it is important to monitor them closely. Two emerging mutations may be of particular concern: the N1192S mutation in spike protein locates in an extremely highly conserved region of all human coronaviruses that is integral to the viral fusion process, and the F694Y mutation in the RNA polymerase may induce conformational changes that could impact remdesivir binding.


Assuntos
COVID-19 , Glicoproteína da Espícula de Coronavírus , Humanos , Glicoproteína da Espícula de Coronavírus/genética , Aprendizado de Máquina não Supervisionado , SARS-CoV-2/genética , COVID-19/epidemiologia , COVID-19/genética , RNA Polimerase Dependente de RNA , Mutação , Fosfoproteínas/genética
17.
JAMA Netw Open ; 5(9): e2230293, 2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36069983

RESUMO

Importance: With timely collection of SARS-CoV-2 viral genome sequences, it is important to apply efficient data analytics to detect emerging variants at the earliest time. Objective: To evaluate the application of a statistical learning strategy (SLS) to improve early detection of novel SARS-CoV-2 variants using viral sequence data from global surveillance. Design, Setting, and Participants: This case series applied an SLS to viral genomic sequence data collected from 63 686 individuals in Africa and 531 827 individuals in the United States with SARS-CoV-2. Data were collected from January 1, 2020, to December 28, 2021. Main Outcomes and Measures: The outcome was an indicator of Omicron variant derived from viral sequences. Centering on a temporally collected outcome, the SLS used the generalized additive model to estimate locally averaged Omicron caseload percentages (OCPs) over time to characterize Omicron expansion and to estimate when OCP exceeded 10%, 25%, 50%, and 75% of the caseload. Additionally, an unsupervised learning technique was applied to visualize Omicron expansions, and temporal and spatial distributions of Omicron cases were investigated. Results: In total, there were 2698 cases of Omicron in Africa and 12 141 in the United States. The SLS found that Omicron was detectable in South Africa as early as December 31, 2020. With 10% OCP as a threshold, it may have been possible to declare Omicron a variant of concern as early as November 4, 2021, in South Africa. In the United States, the application of SLS suggested that the first case was detectable on November 21, 2021. Conclusions and Relevance: The application of SLS demonstrates how the Omicron variant may have emerged and expanded in Africa and the United States. Earlier detection could help the global effort in disease prevention and control. To optimize early detection, efficient data analytics, such as SLS, could assist in the rapid identification of new variants as soon as they emerge, with or without lineages designated, using viral sequence data from global surveillance.


Assuntos
COVID-19 , SARS-CoV-2 , COVID-19/epidemiologia , Genoma Viral/genética , Humanos , Mutação , SARS-CoV-2/genética , África do Sul , Estados Unidos/epidemiologia
18.
Patient Educ Couns ; 105(2): 290-296, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-34481675

RESUMO

BACKGROUND: Care partners are key members of patients' health care teams, yet little is known about their experiences accessing patient information via electronic portals. OBJECTIVE: To better understand the characteristics and perceptions of care partners who read patients' electronic visit notes. PATIENT INVOLVEMENT: Focus groups with diverse patients from a community health center provided input into survey development. METHODS: We contacted patient portal users at 3 geographically distinct sites in the US via email in 2017 for an online survey including open ended questions which we qualitatively analyzed. RESULTS: Respondents chose whether to answer as care partners (N = 874) or patients (N = 28,782). Among care partner respondents, 44% were spouses, 43% children/other family members, and 14% friends/neighbors/other. Both care partners and patients reported that access to electronic notes was very important for promoting positive health behaviors, but care partners' perceptions of importance were consistently more positive than patients' perceptions of engagement behaviors. Open-ended comments included positive benefits such as: help with remembering the plan for care, coordinating care with other doctors, decreasing stress of care giving, improving efficiency of visits, and supporting patients from a geographical distance. They also offered suggestions for improving electronic portal and note experience for care partners such as having a separate log on for care partners; having doctors avoid judgmental language in their notes; and the ability to prompt needed medical care for patients. DISCUSSION: Care partners value electronic access to patients' health information even more than patients. The majority of care partners were family members, whose feedback is important for improving portal design that effectively engages these care team members. PRACTICAL VALUE: Patient care in the time of COVID-19 increasingly requires social distancing which may place additional burden on care partners supporting vulnerable patients. Access to patient notes may promote quality of care by keeping care partners informed, and care partner's input should be used to optimize portal design and electronic access to patient information.


Assuntos
COVID-19 , Portais do Paciente , Cuidadores , Criança , Registros Eletrônicos de Saúde , Humanos , Leitura , SARS-CoV-2
19.
Sci Rep ; 12(1): 1206, 2022 01 24.
Artigo em Inglês | MEDLINE | ID: mdl-35075180

RESUMO

SARS-CoV-2 is spreading worldwide with continuously evolving variants, some of which occur in the Spike protein and appear to increase viral transmissibility. However, variants that cause severe COVID-19 or lead to other breakthroughs have not been well characterized. To discover such viral variants, we assembled a cohort of 683 COVID-19 patients; 388 inpatients ("cases") and 295 outpatients ("controls") from April to August 2020 using electronically captured COVID test request forms and sequenced their viral genomes. To improve the analytical power, we accessed 7137 viral sequences in Washington State to filter out viral single nucleotide variants (SNVs) that did not have significant expansions over the collection period. Applying this filter led to the identification of 53 SNVs that were statistically significant, of which 13 SNVs each had 3 or more variant copies in the discovery cohort. Correlating these selected SNVs with case/control status, eight SNVs were found to significantly associate with inpatient status (q-values < 0.01). Using temporal synchrony, we identified a four SNV-haplotype (t19839-g28881-g28882-g28883) that was significantly associated with case/control status (Fisher's exact p = 2.84 × 10-11). This haplotype appeared in April 2020, peaked in June, and persisted into January 2021. The association was replicated (OR = 5.46, p-value = 4.71 × 10-12) in an independent cohort of 964 COVID-19 patients (June 1, 2020 to March 31, 2021). The haplotype included a synonymous change N73N in endoRNase, and three non-synonymous changes coding residues R203K, R203S and G204R in the nucleocapsid protein. This discovery points to the potential functional role of the nucleocapsid protein in triggering "cytokine storms" and severe COVID-19 that led to hospitalization. The study further emphasizes a need for tracking and analyzing viral sequences in correlations with clinical status.


Assuntos
COVID-19 , Haplótipos , Hospitalização , Mutação , SARS-CoV-2/genética , COVID-19/epidemiologia , COVID-19/genética , COVID-19/terapia , Feminino , Humanos , Masculino , Washington/epidemiologia
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