scholarly journals The Michigan Genomics Initiative: a biobank linking genotypes and electronic clinical records in Michigan Medicine patients

Author(s):  
Matthew Zawistowski ◽  
Lars G. Fritsche ◽  
Anita Pandit ◽  
Brett Vanderwerff ◽  
Snehal Patil ◽  
...  

The recent wave of biobank repositories linking individual-level genetic data with dense clinical health history has introduced a dramatic paradigm shift in phenotyping for human genetic studies. The mechanism by which biobanks recruit participants can vary dramatically according to factors such as geographic catchment and sampling strategy. These enrollment differences leave an imprint on the cohort, defining the demographics and the utility of the biobank for research purposes. Here we introduce the Michigan Genomics Initiative (MGI), a rolling enrollment, single health system biobank currently consisting of >85,000 participants recruited primarily through surgical encounters at Michigan Medicine. A strong ascertainment effect is introduced by focusing recruitment on individuals in Southeast Michigan undergoing surgery. MGI participants are, on average, less healthy than the general population, which produces a biobank enriched for case counts of many disease outcomes, making it well suited for a disease genetics cohort. A comparison to the much larger UK Biobank, which uses population representative sampling, reveals that MGI has higher prevalence for nearly all diagnosis-code-based phenotypes, and larger absolute numbers of cases for many phenotypes. GWAS of these phenotypes replicate many known findings, validating the genetic and clinical data and their proper linkage. Our results illustrate that single health-system biobanks that recruit participants through opportunistic sampling, such as surgical encounters, produce distinct patient profiles that provide an ideal resource for exploring the genetics of complex diseases.

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Barbara Reis-Santos ◽  
Ethel Leonor Noia Maciel

Setting. Tuberculosis clinical presentation is not typical in kidney transplant recipients and the diagnosis of active disease is usually delayed. Objective. To characterize tuberculosis presentation in Brazilian's kidney transplant recipients. Study Design. We analyzed the clinical records of tuberculosis cases regarding sociodemographic data and health history. Results. Thirteen TB cases were identified among 843 transplant recipients. The average time for TB development after transplantation was 4 years. Eight subjects presented pulmonary disease, seven patients required hospitalization Alertness to the possibility of TB and the careful evaluation for possible TB of all kidney transplant recipients with unexplained is vital, as is the related work of transplant and TB control teams and four died as a consequence of TB. Conclusion. The severe consequences of TB in posttransplantation can become critical.


2021 ◽  
Vol 9 (4) ◽  
pp. 83-85
Author(s):  
James Appleyard

As the Congress explored the nature of burnout among doctors and health professionals in differing settings and in different nations it is clear that burnout is a global phenomenon. An organizational paradigm changes to a person- and people-centered system that incorporates complexity, is adaptive and integrative is essential. Such a change will enable continuing medical education be effective and the current unaffordable and unnecessary waste of human resources that the Congress identified reduced. The Congress reviewed a range of features precipitating burnout including a dysfunctional work–life balance and a variety of relatively simple individually protective factors. It is because of this variety that person- and people-centered initiatives rather than narrowly based top-down management solutions will prove effective Individual-level actions can be taken to reduce stress and poor health symptoms through effective coping and promoting healthy behavior. But there needs to be a much better alignment between the health system and the individual physician so that there are shared professional values within a clear medical ethical framework [23] that encourages professional development and adaptation to the health service environment and health system.


2019 ◽  
Author(s):  
Henry Zakumumpa ◽  
Joseph Rujumba ◽  
Japheth Kwiringira ◽  
Cordelia Katureebe ◽  
Neil Spicer

Abstract Background Although Differentiated Service Delivery (DSD) for anti-retroviral therapy (ART) has been rolled-out nationally in several countries since World Health Organization (WHO)’s landmark 2016 guidelines, there is little research evaluating post-implementation outcomes. The objective of this study was to explore patients’ and HIV service managers’ perceptions of the early implementation experiences of national DSD roll-out across Uganda. Methods We utilized a qualitative research design involving 124 participants. Between April and June 2019 we conducted 76 semi-structured interviews with national-level HIV program managers (n=18), District Health Team leaders (n=24), representatives of PEPFAR implementing organizations (11), ART clinic in-charges (23) in six purposively selected Uganda districts with a high HIV burden (Kampala, Luwero, Wakiso, Mbale, Budadiri, Bulambuli). Six focus group discussions (48 participants) were held with patients enrolled in DSD models in case-study districts. Data were analyzed by thematic approach as guided by the multi-level analytical framework by Levesque et al. (2013): Individual-level factors; Health-system factors; Community factors; and Context. Results Our data shows that multiple barriers have been encountered in DSD implementation. Individual-level factors: Individualized stigma and a fear of detachment from health facilities by stable patients enrolled in community-based models were reported as bottlenecks. Socio-economic status was reported to have an influence on patient selection of DSD models. Health-system factors: Insufficient training of health workers in DSD delivery and supply chain barriers to multi-month ART dispensing were identified as constraints. Patients perceived current selection of DSD models to be provider-intensive and not sufficiently patient-centred. Community factors: Community-level stigma and insufficient funding to providers to fully operationalize community drug pick-up points were identified as limitations. Contextual factors: Frequent changes in physical addresses among urban clients were reported to impede the running of patient groups of rotating drug pick-ups. Conclusion This is one of the first multi-stakeholder evaluations of national DSD implementation in Uganda since initial roll-out in 2017. Multi-level interventions are needed to accelerate further DSD implementation in Uganda from demand-side (addressing self-stigma barriers, community engagement) and supply-side dimensions (strengthening ART supply chain capacities, increasing funding for community models and further DSD program design to improve patient-centeredness).


F1000Research ◽  
2019 ◽  
Vol 8 ◽  
pp. 263
Author(s):  
Vincenzo Parrinello ◽  
Elena Grasso ◽  
Giuseppe Saglimbeni ◽  
Gabriella Patanè ◽  
Alma Scalia ◽  
...  

Background: The Institute for Healthcare Improvement (IHI) has proposed a new method, the Global Trigger Tool (IHI GTT), to detect and monitor adverse events (AEs) and provide information to implement improvement. In 2015, the Sicilian Health System adopted IHI GTT to assess the number, types and severity levels of AEs. The GTT was implemented in 44 of 73 Sicilian public hospitals and 18,008 clinical records (CRs) were examined. Here we present the standardized application of the GTT and the preliminary results of 14,706 reviews of CRs. Methods: IHI GTT was adapted to the local context, and developed and implemented. Reviews of CRs were conducted by 199 professionals divided into 71 review teams consisting of three individuals: two of whom had clinical knowledge and expertise, and a physician to authenticate the AE. The reviewers entered data into a dedicated IT-platform. All 44 of the public hospitals were included, with approximately 300,000 inpatient yearly admission out of a population of approximately 5 million. In total, 14,706 CRs of inpatients from medicine, surgery, obstetric and ICU wards, from June 2015 to June 2018 were reviewed. Results: In 975 (6.6%) CRs at least one AE was found. Approximately 20,000 patients of the 300,000 discharged each year in Sicily have at least one AE. In 5,574 (37.9%) CRs at least one trigger was found. A total of 1,542 AEs were found. The analysis of ROC curve shows that the presence of two triggers in a CR indicates an AE with a high probability. The most frequent type of AE was in-hospital related infection. Conclusions: The GTT is an efficient method to identify AEs and to track improvement of care. The analysis and monitoring of some triggers is important to prevent AEs. However, it is a labor-intensive method, particularly if the CRs are paper based.


2021 ◽  
Vol 288 (1951) ◽  
pp. 20210458
Author(s):  
L. Benestan ◽  
K. Fietz ◽  
N. Loiseau ◽  
P. E. Guerin ◽  
E. Trofimenko ◽  
...  

How far do marine larvae disperse in the ocean? Decades of population genetic studies have revealed generally low levels of genetic structure at large spatial scales (hundreds of kilometres). Yet this result, typically based on discrete sampling designs, does not necessarily imply extensive dispersal. Here, we adopt a continuous sampling strategy along 950 km of coast in the northwestern Mediterranean Sea to address this question in four species. In line with expectations, we observe weak genetic structure at a large spatial scale. Nevertheless, our continuous sampling strategy uncovers a pattern of isolation by distance at small spatial scales (few tens of kilometres) in two species. Individual-based simulations indicate that this signal is an expected signature of restricted dispersal. At the other extreme of the connectivity spectrum, two pairs of individuals that are closely related genetically were found more than 290 km apart, indicating long-distance dispersal. Such a combination of restricted dispersal with rare long-distance dispersal events is supported by a high-resolution biophysical model of larval dispersal in the study area, and we posit that it may be common in marine species. Our results bridge population genetic studies with direct dispersal studies and have implications for the design of marine reserve networks.


BMJ Open ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. e044944
Author(s):  
Mackwellings Maganizo Phiri ◽  
Effie Makepeace ◽  
Margaret Nyali ◽  
Moses Kumwenda ◽  
Liz Corbett ◽  
...  

IntroductionMen have a higher prevalence of undiagnosed tuberculosis (TB) than women and can spend up to a year longer contributing to ongoing transmission in the community before receiving treatment. Health outcomes are often worse for patients with TB living in informal settlements especially men. This study aimed to understand the barriers preventing men from seeking care for TB and cocreate interventions to address these barriers.MethodsWe used qualitative research methods including in-depth interviews and participatory workshops. Researchers worked with women and men living in Bangwe, an informal settlement in Blantyre, Malawi to develop interventions that reflected their lived realities. The study took place over two phases, in the first phase we undertook interviews with men and women to explore barrier to care seeking, in the second phase we used participatory workshops to cocreate interventions to address barriers and followed up on issues emerging from the workshops with further interviews. In total, 30 interviews were conducted, and 23 participants joined participatory workshops. The team used a thematic analysis to analyse the data.ResultsThree interconnected thematic areas shaped men’s health TB seeking behaviour: precarious socioeconomic conditions; gendered social norms; and constraints in the health system. Insecurity of day labour with no provision for sick leave; pressure to provide for the household and a gendered desire not to appear weak and a severely under-resourced health system all contributed to men delaying care in this context. Identified interventions included improved patient–provider relations within the health-system, improved workers’ health rights and broader social support for households.ConclusionImproving mens’ pathways to care requires interventions that consider contextual issues by addressing individual level socioeconomic factors but also broader structural factors of gendered social dynamics and health systems environment.


2015 ◽  
Vol 31 (6) ◽  
pp. 390-398 ◽  
Author(s):  
Noor Tromp ◽  
Rozar Prawiranegara ◽  
Adiatma Siregar ◽  
Deni Sunjaya ◽  
Rob Baltussen

Objectives: This study describes the views of various stakeholders on the importance of different criteria for priority setting of HIV/AIDS interventions in Indonesia.Methods: Based on a general list of criteria and a focus group discussion with stakeholders (n = 6), a list was developed of thirty-two criteria that play a role in priority setting in HIV/AIDS control in West-Java province. Criteria were categorized according to the World Health Organization's health system goals and building block frameworks. People living with HIV/AIDS (n = 49), healthcare workers (HCW) (n = 41), the general population (n = 43), and policy makers (n = 22) rated the importance of thirty-two criteria on a 5-point Likert-scale. Thereafter, respondents ranked the highest rated criteria to express more detailed preferences.Results: Stakeholders valued the following criteria as most important for the priority setting of HIV/AIDS interventions: an intervention's impact on the HIV/AIDS epidemic, reduction of stigma, quality of care, effectiveness on individual level, and feasibility in terms of current capacity of the health system (i.e., HCW, product, information, and service requirements), financial sustainability, and acceptance by donors. Overall, stakeholders’ preferences for the importance of criteria are similar.Conclusions: Our study design outlines an approach for other settings to identify which criteria are important for priority setting of health interventions. For Indonesia, these study results may be used in priority setting processes for HIV/AIDS control and may contribute to more transparent and systematic allocation of resources.


2006 ◽  
Vol 30 (1) ◽  
pp. 83 ◽  
Author(s):  
Ronald Donato ◽  
Jeffrey Richardson

Diagnosis-based risk adjustment is increasingly seen as an important tool for establishing capitation payments and evaluating appropriateness and efficiency of services provided and has become an important area of research for many countries contemplating health system reform. This paper examines the application of a risk-adjustment method, extensively validated in the United States, known as diagnostic cost groups (DCG), to a large Australian hospital inpatient data set. The data set encompassed hospital inpatient diagnoses and inpatient expenditure for the entire metropolitan population residing in the state of New South Wales. The DCG model was able to explain 34% of individual-level variation in concurrent expenditure and 5.2% in subsequent year expenditure, which is comparable to US studies using inpatient-only data. The degree of stability and internal consistency of the parameter estimates for both the concurrent and prospective models indicate the DCG methodology has face validity in its application to NSW health data sets. Modelling and simulations were conducted which demonstrate the policy applications and significance of risk adjustment model(s) in the Australian context. This study demonstrates the feasibility of using large individual-level data sets for diagnosis-based risk adjustment research in Australia. The results suggest that a research agenda should be established to broaden the options for health system reform.


Author(s):  
Naomi N. Duke ◽  
Todd M. Jensen ◽  
Krista M. Perreira ◽  
V. Joseph Hotz ◽  
Kathleen Mullan Harris

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