Pharmacogenetics has emerged as a new tool for the optimization of drug therapy. Although the pharmacogenetics concept was first recognized at least 50 years ago, clinical testing to determine pharmacogenetic traits is still relatively rare, and many hurdles are markedly slowing its development. There is a lot of literature and speculation about potential ethical challenges in genetic and pharmacogenetic testing, yet few researchers have actually examined the attitudes of health care professionals regarding the clinical application of these tests.
In this article, we aim to review the current literature on health care professionals' perceptions of the role of pharmacogenetic data and describe the attitudes of medical students when faced with a clinical pharmacogenetic testing scenario.
A group of 59 third-year medical students from the American University of Beirut Medical Center were asked to answer a questionnaire about pharmacogenetic testing after being exposed to a clinical scenario of a patient who was diagnosed with mild Alzheimer Disease (AD) and hence was a candidate for therapy with one of the acetylcholinesterase (AChE) inhibitors.
The students indicated that they would respect patients' confidentiality and inform them about the test results and therapeutic plan, but they would not be as open about bad prognoses. They did not agree on the therapeutic plan that would follow a pharmacogenetic test result and were uncertain about potential patient discrimination in insurability.
Our and others' findings demonstrate the existence and seriousness of several challenges pertaining to pharmacogenetic applications in the clinical setting. Further training and education are needed for health care professionals, since they are the ones who will most probably request these tests in the near future.
"ough the number of studies speci�cally devoted to the pediatric population is still limited compared to adults, an increasing number of genes are being identi�ed in which variants have an in�uence on pharmacological treatment of childhood diseases . e identi�cation of variants in novel genes as well as the validation of their functional effects will further increase our ability to predict drug treatment response in children; at the same time, the clinical implementation of this knowledge will demand an e�cient diagnostic approach to �rst identify a pharmacogenomic pro�le in an individual patient in a short period of time, next to evidence-based clinical guidelines to facilitate decision making based on the genotype . e current golden standard for detecting pathogenic variants—single nucleotide variations or small indels—is Sanger sequencing  . "
[Show abstract][Hide abstract] ABSTRACT: Pharmacogenetics is considered as a prime example of how personalized medicine nowadays can be put into practice. However, genotyping to guide pharmacological treatment is relatively uncommon in the routine clinical practice. Several reasons can be found why the application of pharmacogenetics is less than initially anticipated, which include the contradictory results obtained for certain variants and the lack of guidelines for clinical implementation. However, more reproducible results are being generated, and efforts have been made to establish working groups focussing on evidence-based clinical guidelines. For another pharmacogenetic hurdle, the speed by which a pharmacogenetic profile for a certain drug can be obtained in an individual patient, there has been a revolution in molecular genetics through the introduction of next generation sequencing (NGS), making it possible to sequence a large number of genes up to the complete genome in a single reaction. Besides the enthusiasm due to the tremendous increase of our sequencing capacities, several considerations need to be made regarding quality and interpretation of the sequence data as well as ethical aspects of this technology. This paper will focus on the different NGS applications that may be useful for pharmacogenomics in children and the challenges that they bring on.
International Journal of Pediatrics 01/2013; 2013(2):136524. DOI:10.1155/2013/136524
[Show abstract][Hide abstract] ABSTRACT: At some point in the disease process many persons with dementia (PWD) will have a missing incident and be unable to safely return to their care setting. In previous research studies, researchers have begun to question whether this phenomenon should continue to be called wandering since the antecedents and characteristics of a missing incident are dissimilar to accepted definitions of wandering in dementia. The purpose of this study was to confirm previous findings regarding the antecedents and characteristics of missing incidents, understand the differences between those found dead and alive, and compare the characteristics of a missing incident to that of wandering.
A retrospective design was used to analyse 325 newspaper reports of PWD missing in the community.
The primary antecedent to a missing incident, particularly in community-dwelling PWD, was becoming lost while conducting a normal and permitted activity alone in the community. The other common antecedent was a lapse in supervision with the expectation that the PWD would remain in a safe location but did not. Deaths most commonly occurred in unpopulated areas due to exposure and drowning. Those who died were found closer to the place last seen and took longer to find, but there were no significant differences in gender or age. The key characteristics of a missing incident were: unpredictable, non-repetitive, temporally appropriate but spatially-disordered, and while using multiple means of movement (walking, car, public transportation). Missing incidents occurred without the discernible pattern present in wandering such as lapping or pacing, repetitive and temporally-disordered.
This research supports the mounting evidence that the concept of wandering, in its formal sense, and missing incidents are two distinct concepts. It will be important to further develop the concept of missing incidents by identifying the differences and similarities from wandering. This will allow a more targeted assessment and intervention strategy for each problem.
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