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1.
慢性病个性化健康服务在基因组时代的研究和应用现状   总被引:1,自引:0,他引:1  
人类基因组研究的进展催生了个性化健康服务的理念,该文从慢性病预防的角度出发,综述了个性化健康服务在基因组时代产生的背景,现有研究成果在疾病防治中应用的现状以及遗传和环境因素研究方面存在的方法学问题,旨在为未来个性化健康服务的发展提供参考。  相似文献
2.
目的:回顾本院药物相关基因检测开展情况。方法从实验室建立、检测项目、检测情况和临床应用情况等方面进行阐述。结果本院已开展30种药物相关基因检测,涉及阿司匹林、华法林、氯吡格雷等药物,覆盖医院10余个科室。药物相关基因检测在促进个体化用药方面发挥积极作用。结论进行药物相关基因检测是个体化用药发展的趋势,也是临床药师深入临床合理用药监测工作的重要方面,并使患者用药更加安全、有效。  相似文献
3.
We examine key study design challenges of using stated-preference methods to estimate the value of whole-genome sequencing (WGS) as a specific example of genomic testing. Assessing the value of WGS is complex because WGS provides multiple findings, some of which can be incidental in nature and unrelated to the specific health concerns that motivated the test. In addition, WGS results can include actionable findings (variants considered to be clinically useful and can be acted on), findings for which evidence for best clinical action is not available (variants considered clinically valid but do not meet as high of a standard for clinical usefulness), and findings of unknown significance. We consider three key challenges encountered in designing our national study on the value of WGS—layers of uncertainty, potential downstream consequences with endogenous aspects, and both positive and negative utility associated with testing information—and potential solutions as strategies to address these challenges. We conceptualized the decision to acquire WGS information as a series of sequential choices that are resolved separately. To determine the value of WGS information at the initial decision to undergo WGS, we used contingent valuation questions, and to elicit respondent preferences for reducing risks of health problems and the consequences of taking the steps to reduce these risks, we used a discrete-choice experiment. We conclude by considering the implications for evaluating the value of other complex health technologies that involve multiple forms of uncertainty.  相似文献
4.

Background

New payment and care organization approaches, such as those of accountable care organizations (ACOs), are reshaping accountability and shifting risk, as well as decision making, from payers to providers, within the Triple Aim context of health reform. The Triple Aim calls for improving experience of care, improving health of populations, and reducing health care costs.

Objectives

To understand how the transition to the ACO model impacts decision making on adoption and use of innovative technologies in the era of accelerating scientific advancement of personalized medicine and other innovations.

Methods

We interviewed representatives from 10 private payers and 6 provider institutions involved in implementing the ACO model (i.e., ACOs) to understand changes, challenges, and facilitators of decision making on medical innovations, including personalized medicine. We used the framework approach of qualitative research for study design and thematic analysis.

Results

We found that representatives from the participating payer companies and ACOs perceive similar challenges to ACOs’ decision making in terms of achieving a balance between the components of the Triple Aim—improving care experience, improving population health, and reducing costs. The challenges include the prevalence of cost over care quality considerations in ACOs’ decisions and ACOs’ insufficient analytical and technology assessment capacity to evaluate complex innovations such as personalized medicine. Decision-making facilitators included increased competition across ACOs and patients’ interest in personalized medicine.

Conclusions

As new payment models evolve, payers, ACOs, and other stakeholders should address challenges and leverage opportunities to arm ACOs with robust, consistent, rigorous, and transparent approaches to decision making on medical innovations.  相似文献
5.
Genomic research has generated much new knowledge into mechanisms of human disease, with the potential to catalyze novel drug discovery and development, prenatal and neonatal screening, clinical pharmacogenomics, more sensitive risk prediction, and enhanced diagnostics. Genomic medicine, however, has been limited by critical evidence gaps, especially those related to clinical utility and applicability to diverse populations. Genomic medicine may have the greatest impact on health care if it is integrated into primary care, where most health care is received and where evidence supports the value of personalized medicine grounded in continuous healing relationships. Redesigned primary care is the most relevant setting for clinically useful genomic medicine research. Taking insights gained from the activities of the Institute of Medicine (IOM) Roundtable on Translating Genomic-Based Research for Health, we apply lessons learned from the patient-centered medical home national experience to implement genomic medicine in a patient-centered, learning health care system.  相似文献
6.
Organizations that provide health services are increasingly in need of systems and approaches that will enable them to be more responsive to the needs and wishes of their clients. Two recent trends, namely, patient-centered care (PCC) and personalized medicine, are first steps in the customization of care. PCC shifts the focus away from the disease to the patient. Personalized medicine, which relies heavily on genetics, promises significant improvements in the quality of healthcare through the development of tailored and targeted drugs. We need to understand how these two trends can be related to customization in healthcare delivery and, because customization often entails extra costs, to define new business models. This article analyze how customization of the care process can be developed and managed in healthcare. Drawing on relevant literature from various services sectors, we have developed a framework for the implementation of customization by the hospital managers and caregivers involved in care pathways.  相似文献
7.

Objective

This commentary offers a discussion of the need to consider behavioral interventions such as physical exercise as integral components of personalized medicine.

Methods

We discuss the concept of personalized medicine and review existing evidence of variability in response to exercise training.

Results

We argue that increased understanding is needed regarding sources of variability in exercise responsiveness, and that such understanding should lead to more tailored, often multimodal interventions.

Conclusion

Studies of personalized medicine to date have primarily investigated heterogeneity in drug responsiveness; we believe it is time to begin considering preventive strategies such as exercise within a broader scope of personalized care.  相似文献
8.
Recently, several study designs incorporating treatment effect assessment in biomarker‐based subpopulations have been proposed. Most statistical methodologies for such designs focus on the control of type I error rate and power. In this paper, we have developed point estimators for clinical trials that use the two‐stage adaptive enrichment threshold design. The design consists of two stages, where in stage 1, patients are recruited in the full population. Stage 1 outcome data are then used to perform interim analysis to decide whether the trial continues to stage 2 with the full population or a subpopulation. The subpopulation is defined based on one of the candidate threshold values of a numerical predictive biomarker. To estimate treatment effect in the selected subpopulation, we have derived unbiased estimators, shrinkage estimators, and estimators that estimate bias and subtract it from the naive estimate. We have recommended one of the unbiased estimators. However, since none of the estimators dominated in all simulation scenarios based on both bias and mean squared error, an alternative strategy would be to use a hybrid estimator where the estimator used depends on the subpopulation selected. This would require a simulation study of plausible scenarios before the trial.  相似文献
9.
21世纪的医学科学正在经历一场战略转移,其主要的标志是所谓21世纪4P医学的理念与框架;即个体化医学、预测医学、预防医学及公众参与式医学。为实现人人享有生殖健康的宏伟目标,必须遵循4P医学的理念与战略,对影响生殖健康的诸因素进行综合系统分析,以建立一个预测、诊断,治疗、预防和健康教育与健康促进的生殖健康综合服务模式。  相似文献
10.
We use a simple model to study the static and dynamic efficiency of alternative regulation regimes for the reimbursement of medical innovations when responses to a new treatment (effectiveness) are heterogeneous across the eligible population. When the rational behavior of profit‐maximizing firms is taken into account, only average value‐based prices can ensure both static and dynamic efficiency, but they imply higher expenditure and lower consumer surplus. Ignoring dynamic efficiency, if patients' responses are sufficiently homogeneous, marginal value‐based prices may dominate from the payer's perspective. We also present a refinement of average value‐based prices that could reverse this result. Overall, the cost of ensuring static and dynamic efficiency is increasing in the degree of heterogeneity. A real‐world example is used to illustrate these results.  相似文献
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