Clinical application of high throughput molecular screening techniques for pharmacogenomics.

Genetic analysis is one of the fastest-growing areas of clinical diagnostics. Fortunately, as our knowledge of clinically relevant genetic variants rapidly expands, so does our ability to detect these variants in patient samples. Increasing demand for genetic information may necessitate the use of high throughput diagnostic methods as part of clinically validated testing. Here we provide a general overview of our current and near-future abilities to perform large-scale genetic testing in the clinical laboratory. First we review in detail molecular methods used for high throughput mutation detection, including techniques able to monitor thousands of genetic variants for a single patient or to genotype a single genetic variant for thousands of patients simultaneously. These methods are analyzed in the context of pharmacogenomic testing in the clinical laboratories, with a focus on tests that are currently validated as well as those that hold strong promise for widespread clinical application in the near future. We further discuss the unique economic and clinical challenges posed by pharmacogenomic markers. Our ability to detect genetic variants frequently outstrips our ability to accurately interpret them in a clinical context, carrying implications both for test development and introduction into patient management algorithms. These complexities must be taken into account prior to the introduction of any pharmacogenomic biomarker into routine clinical testing

Drug prescription support in dental clinics through drug corpus mining

The rapid increase in the volume and variety of data poses a challenge to safe drug prescription for the dentist. The increasing number of patients that take multiple drugs further exerts pressure on the dentist to make the right decision at point-of-care. Hence, a robust decision support system will enable dentists to make decisions on drug prescription quickly and accurately. Based on the assumption that similar drug pairs have a higher similarity ratio, this paper suggests an innovative approach to obtain the similarity ratio between the drug that the dentist is going to prescribe and the drug that the patient is currently taking. We conducted experiments to obtain the similarity ratios of both positive and negative drug pairs, by using feature vectors generated from term similarities and word embeddings of biomedical text corpus. This model can be easily adapted and implemented for use in a dental clinic to assist the dentist in deciding if a drug is suitable for prescription, taking into consideration the medical profile of the patients. Experimental evaluation of our model’s association of the similarity ratio between two drugs yielded a superior F score of 89%. Hence, such an approach, when integrated within the clinical work flow, will reduce prescription errors and thereby increase the health outcomes of patients

Drug prescription support in dental clinics through drug corpus mining

The rapid increase in the volume and variety of data poses a challenge to safe drug prescription for the dentist. The increasing number of patients that take multiple drugs further exerts pressure on the dentist to make the right decision at point-of-care. Hence, a robust decision support system will enable dentists to make decisions on drug prescription quickly and accurately. Based on the assumption that similar drug pairs have a higher similarity ratio, this paper suggests an innovative approach to obtain the similarity ratio between the drug that the dentist is going to prescribe and the drug that the patient is currently taking. We conducted experiments to obtain the similarity ratios of both positive and negative drug pairs, by using feature vectors generated from term similarities and word embeddings of biomedical text corpus. This model can be easily adapted and implemented for use in a dental clinic to assist the dentist in deciding if a drug is suitable for prescription, taking into consideration the medical profile of the patients. Experimental evaluation of our model’s association of the similarity ratio between two drugs yielded a superior F score of 89%. Hence, such an approach, when integrated within the clinical work flow, will reduce prescription errors and thereby increase the health outcomes of patients

Conceptual graph-based knowledge representation for supporting reasoning in African traditional medicine

Although African patients use both conventional or modern and traditional healthcare simultaneously, it has been proven that 80% of people rely on African traditional medicine (ATM). ATM includes medical activities stemming from practices, customs and traditions which were integral to the distinctive African cultures. It is based mainly on the oral transfer of knowledge, with the risk of losing critical knowledge. Moreover, practices differ according to the regions and the availability of medicinal plants. Therefore, it is necessary to compile tacit, disseminated and complex knowledge from various Tradi-Practitioners (TP) in order to determine interesting patterns for treating a given disease. Knowledge engineering methods for traditional medicine are useful to model suitably complex information needs, formalize knowledge of domain experts and highlight the effective practices for their integration to conventional medicine. The work described in this paper presents an approach which addresses two issues. First it aims at proposing a formal representation model of ATM knowledge and practices to facilitate their sharing and reusing. Then, it aims at providing a visual reasoning mechanism for selecting best available procedures and medicinal plants to treat diseases. The approach is based on the use of the Delphi method for capturing knowledge from various experts which necessitate reaching a consensus. Conceptual graph formalism is used to model ATM knowledge with visual reasoning capabilities and processes. The nested conceptual graphs are used to visually express the semantic meaning of Computational Tree Logic (CTL) constructs that are useful for formal specification of temporal properties of ATM domain knowledge. Our approach presents the advantage of mitigating knowledge loss with conceptual development assistance to improve the quality of ATM care (medical diagnosis and therapeutics), but also patient safety (drug monitoring)

Transforming Healthcare Quality through Information Tehnology

Information and information exchange are crucial to the delivery of care on all levels of the health care delivery system—the patient, the care team, the health care organization, and the encompassing political-economic environment. To diagnose and treat individual patients effectively, individual care providers and care teams must have access to at least three major types of clinical information—the patient’s health record, the rapidly changing medical-evidence base, and provider orders guiding the process of patient care. In this frame, Information Technology can help healthcare organizations improve the quality of care that they provide, improve patient safety, improve cost-effectiveness, accelerate the translation of research findings into practice, improve care for the medically underserved, increase consumer involvement, improve accuracy and privacy, and increase their ability to monitor health nationally. Consequently, in the present article are presented some implementations of Information and Communication Technologies in the Health Care field.Healthcare; Quality; Information and Communication Technologies

Leveraging Knowledge-Based Approaches to Promote Antiretroviral Toxicity Monitoring in Underserved Settings

As access and use of antiretroviral therapy continue to increase, the need to improve antiretroviral toxicity monitoring becomes more critical. This is particularly so in underserved settings, where patterns of antiretroviral toxicities possibly alter the need for and frequency of antiretroviral toxicity monitoring. However, barriers such as few skilled healthcare providers and poor infrastructure make antiretroviral toxicity monitoring in underserved settings difficult. The purpose of this dissertation was to investigate how standard clinical guidelines, knowledge-based clinical decision support, and task delegation could be leveraged to overcome barriers to antiretroviral toxicity monitoring in underserved settings. The strategy adopted in this dissertation was guided by the Design Science Research Methodology that emphasizes the generation of scientific knowledge through building novel artifacts. Two qualitative descriptive studies were conducted to characterize the contextual factors associated with antiretroviral toxicity monitoring in underserved settings. Supported by the findings from these studies, a knowledge-based software application prototype that implements clinical practice guidelines for antiretroviral toxicity monitoring was developed. Next, a quantitative validation study was used to evaluate the structure and behavior of the prototype’s knowledge base. Lastly, a quantitative usability study was conducted to assess lay health worker perceptions of the satisfaction and mental effort associated with the use of checklists generated by the prototype. This dissertation research produced empirical evidence about the broad motives and strategies for promoting medication adherence, safety, and effectiveness in underserved settings. It also identified barriers and facilitators of antiretroviral toxicity monitoring within ambulatory HIV care workflows in underserved settings. Additionally, it provided evidence about the extent to which antiretroviral toxicity domain knowledge could be implemented in a knowledge-based application for supporting point-of-care antiretroviral toxicity monitoring. Lastly, the research provided previously unavailable empirical evidence about the perceptions of lay peer health workers on the use of checklists for the documentation of antiretroviral toxicities

ADEPt, a semantically-enriched pipeline for extracting adverse drug events from free-text electronic health records

Adverse drug events (ADEs) are unintended responses to medical treatment. They can greatly affect a patient's quality of life and present a substantial burden on healthcare. Although Electronic health records (EHRs) document a wealth of information relating to ADEs, they are frequently stored in the unstructured or semi-structured free-text narrative requiring Natural Language Processing (NLP) techniques to mine the relevant information. Here we present a rule-based ADE detection and classification pipeline built and tested on a large Psychiatric corpus comprising 264k patients using the de-identified EHRs of four UK-based psychiatric hospitals. The pipeline uses characteristics specific to Psychiatric EHRs to guide the annotation process, and distinguishes: a) the temporal value associated with the ADE mention (whether it is historical or present), b) the categorical value of the ADE (whether it is assertive, hypothetical, retrospective or a general discussion) and c) the implicit contextual value where the status of the ADE is deduced from surrounding indicators, rather than explicitly stated. We manually created the rulebase in collaboration with clinicians and pharmacists by studying ADE mentions in various types of clinical notes. We evaluated the open-source Adverse Drug Event annotation Pipeline (ADEPt) using 19 ADEs specific to antipsychotics and antidepressants medication. The ADEs chosen vary in severity, regularity and persistence. The average F-measure and accuracy achieved by our tool across all tested ADEs were 0.83 and 0.83 respectively. In addition to annotation power, the ADEPT pipeline presents an improvement to the state of the art context-discerning algorithm, ConText