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- Kalokairinou, L, et al.
(author)
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Legislation of direct-to-consumer genetic testing in Europe: : a fragmented regulatory landscape
- 2018
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In: Journal of Community Genetics. - : Springer Science and Business Media LLC. - 1868-310X .- 1868-6001. ; 9:2, s. 117-132
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Research review (peer-reviewed)abstract
- Despite the increasing availability of direct-to-consumer (DTC) genetic testing, it is currently unclear how such services are regulated in Europe, due to the lack of EU or national legislation specifically addressing this issue. In this article, we provide an overview of laws that could potentially impact the regulation of DTC genetic testing in 26 European countries, namely Austria, Belgium, Cyprus, the Czech Republic, Denmark, Estonia, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Latvia, Lithuania, Luxembourg, Norway, Poland, Portugal, Romania, Slovakia, Slovenia, Spain, Sweden, the Netherlands and the United Kingdom. Emphasis is placed on provisions relating to medical supervision, genetic counselling and informed consent. Our results indicate that currently there is a wide spectrum of laws regarding genetic testing in Europe. There are countries (e.g. France and Germany) which essentially ban DTC genetic testing, while in others (e.g. Luxembourg and Poland) DTC genetic testing may only be restricted by general laws, usually regarding health care services and patients’ rights.
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- Schweinsberg, Martin, et al.
(author)
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Same data, different conclusions : Radical dispersion in empirical results when independent analysts operationalize and test the same hypothesis
- 2021
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In: Organizational Behavior and Human Decision Processes. - : Elsevier BV. - 0749-5978 .- 1095-9920. ; 165, s. 228-249
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Journal article (peer-reviewed)abstract
- In this crowdsourced initiative, independent analysts used the same dataset to test two hypotheses regarding the effects of scientists' gender and professional status on verbosity during group meetings. Not only the analytic approach but also the operationalizations of key variables were left unconstrained and up to individual analysts. For instance, analysts could choose to operationalize status as job title, institutional ranking, citation counts, or some combination. To maximize transparency regarding the process by which analytic choices are made, the analysts used a platform we developed called DataExplained to justify both preferred and rejected analytic paths in real time. Analyses lacking sufficient detail, reproducible code, or with statistical errors were excluded, resulting in 29 analyses in the final sample. Researchers reported radically different analyses and dispersed empirical outcomes, in a number of cases obtaining significant effects in opposite directions for the same research question. A Boba multiverse analysis demonstrates that decisions about how to operationalize variables explain variability in outcomes above and beyond statistical choices (e.g., covariates). Subjective researcher decisions play a critical role in driving the reported empirical results, underscoring the need for open data, systematic robustness checks, and transparency regarding both analytic paths taken and not taken. Implications for orga-nizations and leaders, whose decision making relies in part on scientific findings, consulting reports, and internal analyses by data scientists, are discussed.
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- Björklund, Jesper, et al.
(author)
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Fennoscandian tree-ring anatomy shows a warmer modern than medieval climate.
- 2023
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In: Nature. - 1476-4687 .- 0028-0836. ; 620:7972, s. 97-103
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Journal article (peer-reviewed)abstract
- Earth system models and various climate proxy sources indicate global warming is unprecedented during at least the Common Era1. However, tree-ring proxies often estimate temperatures during the Medieval Climate Anomaly (950-1250CE) that are similar to, or exceed, those recorded for the past century2,3, in contrast tosimulation experiments at regional scales4. This not only calls into question the reliability of models and proxies but also contributes to uncertainty in future climate projections5. Here we show that the current climate of the Fennoscandian Peninsula is substantially warmer than that of the medieval period. This highlights the dominant role of anthropogenic forcing in climate warming even at the regional scale, thereby reconciling inconsistencies between reconstructions and model simulations. We used an annually resolved 1,170-year-long tree-ring record that relies exclusively on tracheid anatomical measurements from Pinus sylvestris trees, providing high-fidelity measurements of instrumental temperature variability during the warm season. We therefore call for the construction of more such millennia-long records to further improve our understanding and reduce uncertainties around historical and future climate change at inter-regional and eventually global scales.
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- den Bakker, Emil, et al.
(author)
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Accurate eGFR reporting for children without anthropometric data
- 2017
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In: Clinica Chimica Acta. - : Elsevier BV. - 0009-8981. ; 474, s. 38-43
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Journal article (peer-reviewed)abstract
- Introduction Reporting estimated glomerular filtration rate (eGFR) instead of serum concentrations is advised in current guidelines. Most creatinine-based eGFR equations for children require height, a parameter not readily available to laboratories. Combining height-dependent creatinine- and cystatin C-based eGFR improves performance. Recently, a height-independent creatinine-based eGFR equation has been developed. Aim To compare the combination of height-independent creatinine- and cystatin C-based equations with a combination of equations using anthropometric data. Methods Retrospective analysis of 408 pediatric inulin clearance studies with simultaneous height, creatinine, cystatin C and urea measurements. eGFR calculation using the recalibrated Schwartzcrea (height-dependent), FASage (height-independent) and the Schwartzcys equation. The means (Schwartzcrea + Schwartzcys) / 2 and (FASage + Schwartzcys) / 2 were compared with the CKiD3 equation incorporating cystatin C, creatinine, urea, height and gender in terms of %prediction error and accuracy. Results All three single parameter equations performed similarly (P30 accuracy around 80%). (FASage + Schwartzcys) / 2 (P30 89.2%) and (Schwartzcrea + Schwartzcys) / 2 (P30 89.0%), performed comparably to CKiD3 (P30 90.0%). If the difference between the creatinine- and the cystatine C based eGFR was < 40%, P30 accuracy of the mean exceeded 90%. Conclusion Combining the height-independent FASage and SchwartzCys equations substantially improves accuracy and performs comparably to height-dependent equations. This allows laboratories to directly report eGFR in children.
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- Esper, Jan, et al.
(author)
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The IPCC’s reductive Common Era temperature history
- 2024
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In: Communications Earth & Environment. - 2662-4435. ; 5
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Research review (peer-reviewed)abstract
- Common Era temperature variability has been a prominent component in Intergovernmental Panel on Climate Change reports over the last several decades and was twice featured in their Summary for Policymakers. A single reconstruction of mean Northern Hemisphere temperature variability was first highlighted in the 2001 Summary for Policymakers, despite other estimates that existed at the time. Subsequent reports assessed many large-scale temperature reconstructions, but the entirety of Common Era temperature history in the most recent Sixth Assessment Report of the Intergovernmental Panel on Climate Change was restricted to a single estimate of mean annual global temperatures. We argue that this focus on a single reconstruction is an insufficient summary of our understanding of temperature variability over the Common Era. We provide a complementary perspective by offering an alternative assessment of the state of our understanding in high-resolution paleoclimatology for the Common Era and call for future reports to present a more accurate and comprehensive assessment of our knowledge about this important period of human and climate history.
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- Rizk, Sabrin, et al.
(author)
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Implementing an Electronic Patient-Reported Outcome and Decision Support Tool in Early Intervention
- 2023
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In: Applied Clinical Informatics. - : Georg Thieme Verlag KG. - 1869-0327. ; 14:1, s. 91-107
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Journal article (peer-reviewed)abstract
- Objective: The aim of the study is to identify and prioritize early intervention (EI) stakeholders' perspectives of supports and barriers to implementing the Young Children's Participation and Environment Measure (YC-PEM), an electronic patient-reported outcome (e-PRO) tool, for scaling its implementation across multiple local and state EI programs.Methods: An explanatory sequential (quan > QUAL) mixed-methods study was conducted with EI families (n = 6), service coordinators (n = 9), and program leadership (n = 7). Semi-structured interviews and focus groups were used to share select quantitative pragmatic trial results (e.g., percentages for perceived helpfulness of implementation strategies) and elicit stakeholder perspectives to contextualize these results. Three study staff deductively coded transcripts to constructs in the Consolidated Framework for Implementation Research (CFIR). Data within CFIR constructs were inductively analyzed to generate themes that were rated by national early childhood advisors for their relevance to longer term implementation.Results: All three stakeholder groups (i.e., families, service coordinators, program leadership) identified thematic supports and barriers across multiple constructs within each of four CFIR domains: (1) Six themes for intervention characteristics, (2) Six themes for process, (3) three themes for inner setting, and (4) four themes for outer setting. For example, all stakeholder groups described the value of the YC-PEM e-PRO in forging connections and eliciting meaningful information about family priorities for efficient service plan development (intervention characteristics). Stakeholders prioritized reaching families with diverse linguistic preferences and user navigation needs, further tailoring its interface with automated data capture and exchange processes (process); and fostering a positive implementation climate (inner setting). Service coordinators and program leadership further articulated the value of YC-PEM e-PRO results for improving EI access (outer setting).Conclusion: Results demonstrate the YC-PEM e-PRO is an evidence-based intervention that is viable for implementation. Optimizations to its interface are needed before undertaking hybrid type-2 and 3 multisite trials to test these implementation strategies across state and local EI programs with electronic data capture capabilities and diverse levels of organizational readiness and resources for implementation.
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- Stoffel, M. A., et al.
(author)
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Demographic histories and genetic diversity across pinnipeds are shaped by human exploitation, ecology and life-history
- 2018
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In: Nature Communications. - : NATURE PUBLISHING GROUP. - 2041-1723. ; 9
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Journal article (peer-reviewed)abstract
- A central paradigm in conservation biology is that population bottlenecks reduce genetic diversity and population viability. In an era of biodiversity loss and climate change, understanding the determinants and consequences of bottlenecks is therefore an important challenge. However, as most studies focus on single species, the multitude of potential drivers and the consequences of bottlenecks remain elusive. Here, we combined genetic data from over 11,000 individuals of 30 pinniped species with demographic, ecological and life history data to evaluate the consequences of commercial exploitation by 18th and 19th century sealers. We show that around one third of these species exhibit strong signatures of recent population declines. Bottleneck strength is associated with breeding habitat and mating system variation, and together with global abundance explains much of the variation in genetic diversity across species. Overall, bottleneck intensity is unrelated to IUCN status, although the three most heavily bottlenecked species are endangered. Our study reveals an unforeseen interplay between human exploitation, animal biology, demographic declines and genetic diversity.
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