Personalized medicine to implementation science: Thiopurines set for the leap.
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ABSTRACT:
SUBMITTER: Sharma V
PROVIDER: S-EPMC9575323 | biostudies-literature | 2022 Oct
REPOSITORIES: biostudies-literature
Publications
Personalized medicine to implementation science: Thiopurines set for the leap.
Sharma Vishal V Kedia Saurabh S Ahuja Vineet V
JGH open : an open access journal of gastroenterology and hepatology 20221017 10
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Project description:"An individual's genetic inheritance of microRNA polymorphisms associated with disease progression, prognosis and treatment holds the key to create safer and more personalized drugs and can be a giant leap towards personalized medicine."
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Project description:Solid clinical and academic leadership remains necessary to ensure that healthcare based on digital technologies is relevant, meaningful, and stands on the best possible evidence. This compendium accompanying the "Digital Technologies in Cardiovascular Disorders" article collection in BMC Cardiovascular Disorders summarizes recent knowledge about robust and advanced digital tools for preventing, monitoring, diagnosing, and treating cardiovascular diseases.
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Project description:IGNITE: Genomic Medicine Implementation - The Personalized Medicine Program
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Project description:IGNITE: Genomic Medicine Implementation - The Personalized Medicine Program
| PRJNA606621 | ENA
Project description:ObjectivesDelay or failure to consistently adopt evidence-based or consensus-based best practices into routine clinical care is common, including for patients in the PICU. PICU patients can fail to receive potentially beneficial diagnostic or therapeutic interventions, worsening the burden of illness and injury during critical illness. Implementation science (IS) has emerged to systematically address this problem, but its use of in the PICU has been limited to date. We therefore present a conceptual and methodologic overview of IS for the pediatric intensivist.DesignThe members of Excellence in Pediatric Implementation Science (ECLIPSE; part of the Pediatric Acute Lung Injury and Sepsis Investigators Network) represent multi-institutional expertise in the use of IS in the PICU. This narrative review reflects the collective knowledge and perspective of the ECLIPSE group about why IS can benefit PICU patients, how to distinguish IS from quality improvement (QI), and how to evaluate an IS article.ResultsIS requires a shift in one's thinking, away from questions and outcomes that define traditional clinical or translational research, including QI. Instead, in the IS rather than the QI literature, the terminology, definitions, and language differs by specifically focusing on relative importance of generalizable knowledge, as well as aspects of study design, scale, and timeframe over which the investigations occur.ConclusionsResearch in pediatric critical care practice must acknowledge the limitations and potential for patient harm that may result from a failure to implement evidence-based or professionals' consensus-based practices. IS represents an innovative, pragmatic, and increasingly popular approach that our field must readily embrace in order to improve our ability to care for critically ill children.
| S-EPMC10624111 | biostudies-literature
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| S-EPMC3255116 | biostudies-literature
Project description:BackgroundIntegrating evidence-based innovations (EBIs) into sustained use is challenging; most implementations in health systems fail. Increasing frontline teams' quality improvement (QI) capability may increase the implementation readiness and success of EBI implementation.ObjectivesDevelop a QI training program ("Learn. Engage. Act. Process." (LEAP)) and evaluate its impact on frontline obesity treatment teams to improve treatment delivered within the Veterans Health Administration (VHA).DesignThis was a pre-post evaluation of the LEAP program. MOVE! coordinators (N = 68) were invited to participate in LEAP; 24 were randomly assigned to four starting times. MOVE! coordinators formed teams to work on improvement aims. Pre-post surveys assessed team organizational readiness for implementing change and self-rated QI skills. Program satisfaction, assignment completion, and aim achievement were also evaluated.ParticipantsVHA facility-based MOVE! teams.InterventionsLEAP is a 21-week QI training program. Core components include audit and feedback reports, structured curriculum, coaching and learning community, and online platform.Main measuresOrganizational readiness for implementing change (ORIC); self-rated QI skills before and after LEAP; assignment completion and aim achievement; program satisfaction.Key resultsSeventeen of 24 randomized teams participated in LEAP. Participants' self-ratings across six categories of QI skills increased after completing LEAP (p< 0.0001). The ORIC measure showed no statistically significant change overall; the change efficacy subscale marginally improved (p < 0.08), and the change commitment subscale remained the same (p = 0.66). Depending on the assignment, 35 to 100% of teams completed the assignment. Nine teams achieved their aim. Most team members were satisfied or very satisfied (81-89%) with the LEAP components, 74% intended to continue using QI methods, and 81% planned to continue improvement work.ConclusionsLEAP is scalable and does not require travel or time away from clinical responsibilities. While QI skills improved among participating teams and most completed the work, they struggled to do so amid competing clinical priorities.
| S-EPMC7878618 | biostudies-literature
Project description:Clinical genetic testing began over 30 years ago with the availability of mutation detection for sickle cell disease diagnosis. Since then, the field has dramatically transformed to include gene sequencing, high-throughput targeted genotyping, prenatal mutation detection, preimplantation genetic diagnosis, population-based carrier screening, and now genome-wide analyses using microarrays and next-generation sequencing. Despite these significant advances in molecular technologies and testing capabilities, clinical genetics laboratories historically have been centered on mutation detection for Mendelian disorders. However, the ongoing identification of deoxyribonucleic acid (DNA) sequence variants associated with common diseases prompted the availability of testing for personal disease risk estimation, and created commercial opportunities for direct-to-consumer genetic testing companies that assay these variants. This germline genetic risk, in conjunction with other clinical, family, and demographic variables, are the key components of the personalized medicine paradigm, which aims to apply personal genomic and other relevant data into a patient's clinical assessment to more precisely guide medical management. However, genetic testing for disease risk estimation is an ongoing topic of debate, largely due to inconsistencies in the results, concerns over clinical validity and utility, and the variable mode of delivery when returning genetic results to patients in the absence of traditional counseling. A related class of genetic testing with analogous issues of clinical utility and acceptance is pharmacogenetic testing, which interrogates sequence variants implicated in interindividual drug response variability. Although clinical pharmacogenetic testing has not previously been widely adopted, advances in rapid turnaround time genetic testing technology and the recent implementation of preemptive genotyping programs at selected medical centers suggest that personalized medicine through pharmacogenetics is now a reality. This review aims to summarize the current state of implementing genetic testing for personalized medicine, with an emphasis on clinical pharmacogenetic testing.
| S-EPMC4157398 | biostudies-literature
Project description:BackgroundThe emergence of personalized medicine (PM) has raised some tensions in healthcare systems. PM is expensive and health budgets are constrained - efficient healthcare delivery is therefore critical. Notwithstanding the cost, many countries have started to adopt this novel technology, including resource-limited Southeast Asia (SEA) countries. This study aimed to describe the status of PM adoption in SEA, highlight the challenges and to propose strategies for future development.MethodsThe study included scoping review and key stakeholder interviews in four focus countries - Indonesia, Malaysia, Singapore, and Thailand. The current landscape of PM adoption was evaluated based on an assessment framework of six key themes - healthcare system, governance, access, awareness, implementation, and data. Six PM programs were evaluated for their financing and implementation mechanisms.ResultsThe findings revealed SEA has progressed in adopting PM especially Singapore and Thailand. A regional pharmacogenomics research network has been established. However, PM policies and programs vary significantly. As most PM programs are champion-driven and the available funding is limited, the current PM distribution has the potential to widen existing health disparities. Low PM awareness in the society and the absence of political support with financial investment are fundamental barriers. There is a clear need to broaden opportunities for critical discourse about PM especially for policymakers. Multi-stakeholder, multi-country strategies need to be prioritized in order to leverage resources and expertise.ConclusionsAdopting PM remains in its infancy in SEA. To achieve an effective PM adoption, it is imperative to balance equity issues across diverse populations while improving efficiency in healthcare.
| S-EPMC6203971 | biostudies-literature
Project description:PurposeThe objective of this study was to identify trends and gaps in the field of implementation science in genomic medicine.MethodsWe conducted a literature review using the Centers for Disease Control and Prevention's Public Health Genomics Knowledge Base to examine the current literature in the field of implementation science in genomic medicine. We selected original research articles based on specific inclusion criteria and then abstracted information about study design, genomic medicine, and implementation outcomes. Data were aggregated, and trends and gaps in the literature were discussed.ResultsOur final review encompassed 283 articles published in 2014, the majority of which described uptake (35.7%, n = 101) and preferences (36.4%, n = 103) regarding genomic technologies, particularly oncology (35%, n = 99). Key study design elements, such as racial/ethnic composition of study populations, were underreported in studies. Few studies incorporated implementation science theoretical frameworks, sustainability measures, or capacity building.ConclusionAlthough genomic discovery provides the potential for population health benefit, the current knowledge base around implementation to turn this promise into a reality is severely limited. Current gaps in the literature demonstrate a need to apply implementation science principles to genomic medicine in order to deliver on the promise of precision medicine.Genet Med advance online publication 12 January 2017.
| S-EPMC6312663 | biostudies-literature