Interplay between Clinical Guidelines and Organizational Workflow Systems. Experience from the MobiGuide Project.

Background: Implementing a decision-support system within a healthcare organization requires integration of clinical domain knowledge with resource constraints. Computer-interpretable guidelines (CIG) are excellent instruments for addressing clinical aspects while business process management (BPM) languages and Workflow (Wf) engines manage the logistic organizational constraints.

Objectives: Our objective is the orchestration of all the relevant factors needed for a successful execution of patient's care pathways, especially when spanning the continuum of care, from acute to community or home care.

Clinical Bioinformatics: challenges and opportunities.

Background: Network Tools and Applications in Biology (NETTAB) Workshops are a series of meetings focused on the most promising and innovative ICT tools and to their usefulness in Bioinformatics. The NETTAB 2011 workshop, held in Pavia, Italy, in October 2011 was aimed at presenting some of the most relevant methods, tools and infrastructures that are nowadays available for Clinical Bioinformatics (CBI), the research field that deals with clinical applications of bioinformatics.

Methods: In this editorial, the viewpoints and opinions of three world CBI leaders, who have been invited to participate in a panel discussion of the NETTAB workshop on the next challenges and future opportunities of this field, are reported.

Bringing research to the point of care: Hypergenes project study.

With advance of health information IT systems and increasing volumes of disparate biomedical information repositories, harvesting them for research purposes is becoming more difficult. This is partly due to the proprietary nature of the current systems, but also due to diverse requirements of different research paradigms. On the flip side, ever larger amounts of clinical and genomic data are currently accumulated in research projects.

Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase.

Essential hypertension is a multifactorial disorder and is the main risk factor for renal and cardiovascular complications. The research on the genetics of hypertension has been frustrated by the small predictive value of the discovered genetic variants. The HYPERGENES Project investigated associations between genetic variants and essential hypertension pursuing a 2-stage study by recruiting cases and controls from extensively characterized cohorts recruited over many years in different European regions.

A standard based approach for biomedical knowledge representation.

The new generation of health information standards, where the syntax and semantics of the content is explicitly formalized, allows for interoperability in healthcare scenarios and analysis in clinical research settings. Studies involving clinical and genomic data include accumulating knowledge as relationships between genotypic and phenotypic information as well as associations within the genomic and clinical worlds. Some involve analysis results targeted at a specific disease; others are of a predictive nature specific to a patient and may be used by decision support applications.

Independent health record banks for older people--the ultimate integration of dispersed and disparate medical records.

Older people have more health issues and use more healthcare services than young people. Consequently, many more records are created by various healthcare providers when they document the care they provided to the older person. The law in most countries requires the healthcare provider to persist the records for a certain amount of time.

Biomedical data integration - capturing similarities while preserving disparities.

One of the challenges of healthcare data processing, analysis and warehousing is the integration of data gathered from disparate and diverse data sources. Promoting the adoption of worldwide accepted information standards along with common terminologies and the use of technologies derived from semantic web representation, is a suitable path to achieve that. To that end, the HL7 V3 Reference Information Model (RIM) [1] has been used as the underlying information model coupled with the Web Ontology Language (OWL) [2] as the semantic data integration technology.

Integrating genomics into clinical practice: standards and regulatory challenges.

Bridging between the worlds of healthcare and life sciences is crucial to realizing the personalized healthcare vision. Initiatives regarding legislation and regulation in this interdisciplinary field, along with significant advancement in the development of data standards for genotype-phenotype associations, give rise to a banking paradigm in the form of both biobanks and independent health record banks (IHRBs). These data banks are the information technology infrastructures that are expected to enable the implementation of personalized healthcare.

Standardization of microarray and pharmacogenomics data.

This chapter provides a bottom-up perspective on bioinformatics data standards, beginning with a historical perspective on biochemical nomenclature standards. Various file format standards were soon developed to convey increasingly complex and voluminous data that nomenclature alone could not effectively organize without additional structure and annotation. As areas of biochemistry and molecular biology have become more integral to the practice of modern medicine, broader data representation models have been created, from corepresentation of genomic and clinical data as a framework for drug research and discovery to the modeling of genotyping and pharmacogenomic therapy within the broader process of the delivery of health care.

The implications of electronic health record for personalized medicine.

The emerging concept of an electronic health record (EHR) targeted at a patient centric, cross-institutional and longitudinal information entity (possibly spanning the individuals lifetime) has great promise for personalized medicine. In fact, it is probably the only vehicle through which we may truly realize the personalization of medicine beyond population-based genetic profiles that are expected to become part of medication and treatment indications in the near future. The new EHR standards include mechanisms that integrate clinical data with genomic testing results obtained through applying research-type procedures, such as full DNA sequencing, to an individual patient.

Clinical genomics data standards for pharmacogenetics and pharmacogenomics.

This special report concerns a talk on data standards given at a workshop entitled 'An International Perspective on Pharmacogenetics: The Intersections between Innovation, Regulation and Health Delivery', which was held by the Organization for Economic Co-operation and Development (OECD) on October 17-19, 2005, in Rome, Italy. The worlds of healthcare and life sciences (HCLS) are extremely fragmented in terms of their underlying information technology, making it difficult to semantically exchange information between disparate entities. While we have reached the point where functional interoperability is ubiquitous, we are still far from achieving true semantic interoperability where a receiving system can use incoming data as though it was created internally.

The implications of electronic health records for personalized medicine.

The emerging concept of an electronic health record (EHR) targeted at a patient centric, cross-institutional and longitudinal information entity (possibly spanning the individuals lifetime) has great promise for personalized medicine. In fact, it is probably the only vehicle through which we may truly realize the personalization of medicine beyond population-based genetic profiles that are expected to become part of medication and treatment indications in the near future. The new EHR standards include mechanisms that integrate clinical data with genomic testing results obtained through applying research-type procedures, such as full DNA sequencing, to an individual patient.