Evolving health care through personal genomics.
Ontology highlight
ABSTRACT:
SUBMITTER: Rehm HL
PROVIDER: S-EPMC6517837 | biostudies-literature | 2017 Apr
REPOSITORIES: biostudies-literature
Publications
With the rapid evolution of next-generation DNA sequencing technologies, the cost of sequencing a human genome has plummeted, and genomics has started to pervade health care across all stages of life - from preconception to adult medicine. Challenges to fully embracing genomics in a clinical setting remain, but some approaches are starting to overcome these barriers, such as community-driven data sharing to improve the accuracy and efficiency of applying genomics to patient care. ...[more]
Similar Datasets
Project description:Next-generation sequencing has evolved technically and economically into the method of choice for interrogating the genome in cancer and inherited disorders. The introduction of procedural code sets for whole-exome and genome sequencing is a milestone toward financially sustainable clinical implementation; however, achieving reimbursement is currently a major challenge. As part of a prospective quality-improvement initiative to implement the new code sets, we adopted Agile, a development methodology originally devised in software development. We implemented eight functionally distinct modules (request review, cost estimation, preauthorization, accessioning, prebilling, testing, reporting, and reimbursement consultation) and obtained feedback via an anonymous survey. We managed 50 clinical requests (January to June 2015). The fraction of pursued-to-requested cases (n = 15/50; utilization management fraction, 0.3) aimed for a high rate of preauthorizations. In 13 of 15 patients the insurance plan required preauthorization, which we obtained in 70% and ultimately achieved reimbursement in 50%. Interoperability enabled assessment of 12 different combinations of modules that underline the importance of an adaptive workflow and policy tailoring to achieve higher yields of reimbursement. The survey confirmed a positive attitude toward self-organizing teams. We acknowledge the individuals and their interactions and termed the infrastructure: human pipeline. Nontechnical barriers currently are limiting the scope and availability of clinical genomic sequencing. The presented human pipeline is one approach toward long-term financial sustainability of clinical genomics.
| S-EPMC5397703 | biostudies-other
Project description:BackgroundPersonal protective equipment (PPE) plays a critical role in protecting health care workers (HCWs). During the coronavirus disease-2019 (COVID-19) pandemic, shortages of PPE supplies drastically changed the way PPE was obtained and used by HCWs.PurposeThe objective was to investigate the impact of the COVID-19 pandemic and patient isolation type on PPE compliance.MethodsThis investigation was a survey of HCWs at a level 1 trauma teaching hospital regarding PPE compliance patterns prior to and during the COVID-19 pandemic.ResultsHCWs reported an increase in PPE compliance during the COVID-19 pandemic. Nearly half (48.6%) of respondents reported that isolation type impacted the decision to wear PPE, of which most were likely to forgo PPE with contact precautions.ConclusionsHCWs identified multiple barriers to compliance. The underutilization of PPE with contact precautions suggests that the risk of exposure is interpreted as low, and this could be a future target of education.
| S-EPMC8378415 | biostudies-literature
Project description:ImportanceMore conservative prescribing has the potential to reduce adverse drug events and patient harm and cost; however, no method exists defining the extent to which individual clinicians prescribe conservatively. One potential domain is prescribing a more limited number of drugs. Personal formularies-defined as the number and mix of unique, newly initiated drugs prescribed by a physician-may enable comparisons among clinicians, practices, and institutions.ObjectivesTo develop a method of defining primary care physicians' personal formularies and examine how they differ among primary care physicians at 4 institutions; evaluate associations between personal formularies and patient, physician, and practice site characteristics; and empirically derive and examine the variability of the top 200 core drugs prescribed at the 4 sites.Design, setting, and participantsThis retrospective cohort study was conducted at 4 US health care systems among 4655 internal and family medicine physicians and 4 930 707 patients who had at least 1 visit to these physicians between January 1, 2017, and December 31, 2018.ExposuresPersonal formulary size was defined as the number of unique, newly initiated drugs.Main outcomes and measuresPersonal formulary size and drugs used, physician and patient characteristics, core drugs, and analysis of selected drug classes.ResultsThe study population included 4655 primary care physicians (2274 women [48.9%]; mean [SD] age, 48.5 [4.4] years) and 4 930 707 patients (16.5% women; mean [SD] age, 51.9 [8.3] years). There were 41 378 903 outpatient prescriptions written, of which 9 496 766 (23.0%) were new starts. Institution median personal formulary size ranged from 150 (interquartile range, 82.0-212.0) to 296 (interquartile range, 230.0-347.0) drugs. In multivariable modeling, personal formulary size was significantly associated with panel size (total number of unique patients with face-to-face encounters during the study period; 1.2 medications per 100 patients), physician's total number of encounters (5.7 drugs per 10% increase), and physician's sex (-6.2 drugs per 100 patients for female physicians). There were 1527 unique, newly prescribed drugs across the 4 sites. Fewer than half the drugs (626 [41.0%]) were used at every site. Physicians' prescribing of drugs from a pooled core list varied from 0% to 100% of their prescriptions.Conclusions and relevancePersonal formularies, measured at the level of individual physicians and institutions, reveal variability in size and mix of drugs. Similarly, defining a list of commonly prescribed core drugs in primary care revealed interphysician and interinstitutional differences. Personal formularies and core medication lists enable comparisons and may identify outliers and opportunities for safer and more appropriate prescribing.
| S-EPMC8283562 | biostudies-literature
Project description:US health care spending has continued to increase, and now accounts for more than 17% of the US economy. Despite the size and growth of this spending, little is known about how spending on each condition varies by age and across time.To systematically and comprehensively estimate US spending on personal health care and public health, according to condition, age and sex group, and type of care.Government budgets, insurance claims, facility surveys, household surveys, and official US records from 1996 through 2013 were collected and combined. In total, 183 sources of data were used to estimate spending for 155 conditions (including cancer, which was disaggregated into 29 conditions). For each record, spending was extracted, along with the age and sex of the patient, and the type of care. Spending was adjusted to reflect the health condition treated, rather than the primary diagnosis.Encounter with US health care system.National spending estimates stratified by condition, age and sex group, and type of care.From 1996 through 2013, $30.1 trillion of personal health care spending was disaggregated by 155 conditions, age and sex group, and type of care. Among these 155 conditions, diabetes had the highest health care spending in 2013, with an estimated $101.4 billion (uncertainty interval [UI], $96.7 billion-$106.5 billion) in spending, including 57.6% (UI, 53.8%-62.1%) spent on pharmaceuticals and 23.5% (UI, 21.7%-25.7%) spent on ambulatory care. Ischemic heart disease accounted for the second-highest amount of health care spending in 2013, with estimated spending of $88.1 billion (UI, $82.7 billion-$92.9 billion), and low back and neck pain accounted for the third-highest amount, with estimated health care spending of $87.6 billion (UI, $67.5 billion-$94.1 billion). The conditions with the highest spending levels varied by age, sex, type of care, and year. Personal health care spending increased for 143 of the 155 conditions from 1996 through 2013. Spending on low back and neck pain and on diabetes increased the most over the 18 years, by an estimated $57.2 billion (UI, $47.4 billion-$64.4 billion) and $64.4 billion (UI, $57.8 billion-$70.7 billion), respectively. From 1996 through 2013, spending on emergency care and retail pharmaceuticals increased at the fastest rates (6.4% [UI, 6.4%-6.4%] and 5.6% [UI, 5.6%-5.6%] annual growth rate, respectively), which were higher than annual rates for spending on inpatient care (2.8% [UI, 2.8%-2.8%] and nursing facility care (2.5% [UI, 2.5%-2.5%]).Modeled estimates of US spending on personal health care and public health showed substantial increases from 1996 through 2013; with spending on diabetes, ischemic heart disease, and low back and neck pain accounting for the highest amounts of spending by disease category. The rate of change in annual spending varied considerably among different conditions and types of care. This information may have implications for efforts to control US health care spending.
| S-EPMC5551483 | biostudies-literature
Project description:An overall goal of functional genomics has been to measure the impact of variants on molecular endophenotypes (e.g. gene expression levels or the degree of TF binding) and relate this to organismal traits and disease phenotypes. However, all the experiments to date have been described relative to a generic reference genome, significantly hobbling their interpretation. Here, we describe a strategy for finding significant relationships between disease variation and genomic annotation via personal functional genomics, by performing personal genome sequencing and paired functional genomics experiments, on the same individual.
2024-05-22 | PXD022787 | Pride
Project description:About 180 million people worldwide are chronically infected with hepatitis C virus (HCV), with 3-4 million newly infected each year. Only 15-25% of acute HCV infections clear spontaneously, and the remainder persists as chronic HCV infection. More than 350,000 people die every year from hepatitis C-related liver failure and cancer. There is currently no vaccine and the standard-of-care therapies--peg-interferon alpha (pegIFN) plus ribavirin (RBV)--are expensive and have serious side effects. Also, they may be effective in only 40-50% of patients infected with HCV genotype 1, the most common HCV genotype in the US. Interleukin 28B (IL28B) genotype was recently and convincingly associated with response to pegIFN and RBV therapy. It has emerged as a robust pretreatment predictor of sustained virological response (SVR, i.e. virologic clearance) to pegIFN and RBV as well as to new triple therapy regimens that include a direct-acting antiviral agent with pegIFN and RBV and increase SVR rates as much as 75% in patients infected with HCV genotype 1. Testing for IL28B genotype may contribute to clinical decision-making and could inform clinical guidelines and public health policies.
| S-EPMC6676483 | biostudies-literature
Project description:Tunicates have been extensively studied because of their crucial phylogenetic location (the closest living relatives of vertebrates) and particular developmental plan. Recent genome efforts have disclosed that tunicates are also remarkable in their genome organization and molecular evolutionary patterns. Here, we review these latter aspects, comparing the similarities and specificities of two model species of the group: Oikopleura dioica and Ciona intestinalis. These species exhibit great genome plasticity and Oikopleura in particular has undergone a process of extreme genome reduction and compaction that can be explained in part by gene loss, but is mostly due to other mechanisms such as shortening of intergenic distances and introns, and scarcity of mobile elements. In Ciona, genome reorganization was less severe being more similar to the other chordates in several aspects. Rates and patterns of molecular evolution are also peculiar in tunicates, being Ciona about 50% faster than vertebrates and Oikopleura three times faster. In fact, the latter species is considered as the fastest evolving metazoan recorded so far. Two processes of increase in evolutionary rates have taken place in tunicates. One of them is more extreme, and basically restricted to genes encoding regulatory proteins (transcription regulators, chromatin remodeling proteins, and metabolic regulators), and the other one is less pronounced but affects the whole genome. Very likely adaptive evolution has played a very significant role in the first, whereas the functional and/or evolutionary causes of the second are less clear and the evidence is not conclusive. The evidences supporting the incidence of increased mutation and less efficient negative selection are presented and discussed.
| S-EPMC4122922 | biostudies-literature
Project description:Nanoplastics with small particle size and high surface area/volume ratio make them easy to absorb environmental pollutants and affect their bioavailability. In this study, polystyrene nanoplastic beads (PS-NPBs) with a particle size of 100nm and sunscreen butyl methoxydibenzoylmethane (BMDBM) contained in personal care products were chosen as target pollutants to study their developmental toxicity and interactive effects on zebrafish embryo. The exposure period was 2-12 hours post fertilization (hpf). The BMDBM and PS-NPBs significantly upregulated the genes related to antioxidant enzymes and downregulated the gene expression of aromatase and DNA methyltransferases, but the influenced genes were not exactly the same, and the combined exposure reduced the adverse effects on the expression of all genes. With the help of single-cell RNA sequencing technology, the neural mid cells were identified as the target cells of both pollutants, and brain development, head development and notch signaling pathway were the functions they commonly altered. The key genes and functions that are specifically affected by BMDBM and/or PS-NPBs were identified. The BMDBM mainly affect the differentiation and fate of neurons in central nervous system through the regulation of her5, her6, her11, lfng, pax2a and fgfr4. The PS-NPBs regulated the expression of olig2, foxg1a, fzd8b, six3a, rx1, lhx2b, nkx2.1a and sfrp5 to alter nervous system development, retinal development, and stem cell differentiation. The phenotypic responses of zebrafish larvae at 120 hpf were tested, and significant inhibition of locomotor activity was found, indicating that early disrupting effect on central nervous system would have a sustained impact on the behavior of zebrafish.
2020-09-12 | GSE157816 | GEO
Project description:Tobacco use is the second major cause of morbidity and the 4th most common health risk factor in the world. Medical professionals have a critical role in the process of smoking cessation both as advisers and behavioural models for the citizens. The aim of this study was to investigate the prevalence of smoking among health care professionals, their smoking habits and personal attitudes toward smoking, role and the responsibility of health care professionals in the prevention of smoking.Out of the total number of examinees, 175 (35,1%) are active smokers, 29 (5,8%) are former smokers, and 295 (59,1%) are non-smokers. Nurses with secondary education disagree the most with the claim that passive smoking is more harmful to health (χ2 test, p = .008), also with the claim that the introduced Smoking Act is fair to smokers (χ2 test, p = .021). More nurses with secondary education disagree completely or partially that one should pay attention to smoking in the presence of non-smokers (χ2 test, p = .012).Training programs for health care workers are needed to improve their ability in smoking cessation techniques to provide active support to their patients.
| S-EPMC5530462 | biostudies-other
Project description:Evidence-based preventive services offer profound health benefits, yet Americans receive only half of indicated care. A variety of government and specialty society policy initiatives are promoting the adoption of information technologies to engage patients in their care, such as personal health records, but current systems may not utilize the technology's full potential.Using a previously described model to make information technology more patient-centered, we developed an interactive preventive health record (IPHR) designed to more deeply engage patients in preventive care and health promotion. We recruited 14 primary care practices to promote the IPHR to all adult patients and sought practice and patient input in designing the IPHR to ensure its usability, salience, and generalizability. The input involved patient usability tests, practice workflow observations, learning collaboratives, and patient feedback. Use of the IPHR was measured using practice appointment and IPHR databases.The IPHR that emerged from this process generates tailored patient recommendations based on guidelines from the U.S. Preventive Services Task Force and other organizations. It extracts clinical data from the practices' electronic medical record and obtains health risk assessment information from patients. Clinical content is translated and explained in lay language. Recommendations review the benefits and uncertainties of services and possible actions for patients and clinicians. Embedded in recommendations are self management tools, risk calculators, decision aids, and community resources--selected to match patient's clinical circumstances. Within six months, practices had encouraged 14.4% of patients to use the IPHR (ranging from 1.5% to 28.3% across the 14 practices). Practices successfully incorporated the IPHR into workflow, using it to prepare patients for visits, augment health behavior counseling, explain test results, automatically issue patient reminders for overdue services, prompt clinicians about needed services, and formulate personalized prevention plans.The IPHR demonstrates that a patient-centered personal health record that interfaces with the electronic medical record can give patients a high level of individualized guidance and be successfully adopted by busy primary care practices. Further study and refinement are necessary to make information systems even more patient-centered and to demonstrate their impact on care.Clinicaltrials.gov identifier: NCT00589173.
| S-EPMC3250934 | biostudies-literature