Synergy between medical informatics and bioinformatics: facilitating genomic medicine for future health care

Medical Informatics (MI) and Bioinformatics (BI) are two interdisciplinary areas located at the intersection between computer science and medicine and biology, respectively. Historically, they have been separated and only occasionally have researchers of both disciplines collaborated. The completion of the Human Genome Project has brought about in this post genomic era the need for a synergy of these two disciplines to further advance in the study of diseases by correlating essential genotypic information with expressed phenotypic information. Biomedical Informatics (BMI) is the emerging technology that aims to put these two worlds together in the new rising genomic medicine. In this regard, institutions such as the European Commission have recently launched several initiatives to support a new combined research agenda, based on the potential for synergism of both disciplines. In this paper we review the results the BIOINFOMED study one of these projects funded by the E

Standardised lesion segmentation for imaging biomarker quantitation: a consensus recommendation from ESR and EORTC.

BACKGROUND: Lesion/tissue segmentation on digital medical images enables biomarker extraction, image-guided therapy delivery, treatment response measurement, and training/validation for developing artificial intelligence algorithms and workflows. To ensure data reproducibility, criteria for standardised segmentation are critical but currently unavailable. METHODS: A modified Delphi process initiated by the European Imaging Biomarker Alliance (EIBALL) of the European Society of Radiology (ESR) and the European Organisation for Research and Treatment of Cancer (EORTC) Imaging Group was undertaken. Three multidisciplinary task forces addressed modality and image acquisition, segmentation methodology itself, and standards and logistics. Devised survey questions were fed via a facilitator to expert participants. The 58 respondents to Round 1 were invited to participate in Rounds 2-4. Subsequent rounds were informed by responses of previous rounds. RESULTS/CONCLUSIONS: Items with ≥ 75% consensus are considered a recommendation. These include system performance certification, thresholds for image signal-to-noise, contrast-to-noise and tumour-to-background ratios, spatial resolution, and artefact levels. Direct, iterative, and machine or deep learning reconstruction methods, use of a mixture of CE marked and verified research tools were agreed and use of specified reference standards and validation processes considered essential. Operator training and refreshment were considered mandatory for clinical trials and clinical research. Items with a 60-74% agreement require reporting (site-specific accreditation for clinical research, minimal pixel number within lesion segmented, use of post-reconstruction algorithms, operator training refreshment for clinical practice). Items with ≤ 60% agreement are outside current recommendations for segmentation (frequency of system performance tests, use of only CE-marked tools, board certification of operators, frequency of operator refresher training). Recommendations by anatomical area are also specified

Application of biomedical informatics to chronic pediatric diseases: a systematic review

<p>Abstract</p> <p>Background</p> <p>Chronic diseases affect millions of children worldwide leading to substantial disease burden to the children and their families as well as escalating health care costs. The increasing trend in the prevalence of complex pediatric chronic diseases requires innovative and optimal delivery of care. Biomedical informatics applications play an important role in improving health outcomes while being cost-effective. However, their utility in pediatric chronic diseases has not been studied in a comprehensive and systematic way. The objective of this study was to conduct a systematic review of the effects of biomedical informatics applications in pediatric chronic diseases.</p> <p>Methods</p> <p>A comprehensive literature search was conducted using MEDLINE, the Cochrane Library and EMBASE databases from inception of each database to September 2008. We included studies of any methodological type and any language that applied biomedical informatics to chronic conditions in children and adolescents 18 years of age or younger. Two independent reviewers carried out study selection and data extraction. Quality assessment was performed using a study design evaluation instrument to appraise the strength of the studies and their methodological adequacy. Because of heterogeneity in the conditions and outcomes we studied, a formal meta-analysis was not performed.</p> <p>Results</p> <p>Based on our search strategy, 655 titles and abstracts were reviewed. From this set we identified 27 relevant articles that met our inclusion criteria. The results from these studies indicated that biomedical informatics applications have favourable clinical and patient outcomes including, but not limited to, reduced number of emergency room visits, improved knowledge on disease management, and enhanced satisfaction. Seventy percent of reviewed papers were published after year 2000, 89% of users were patients and 11% were either providers or caregivers. The majority (96%) of the selected studies reported improved outcomes.</p> <p>Conclusion</p> <p>Published studies suggested positive impacts of informatics predominantly in pediatric asthma. As electronic tools become more widely adopted, there will be opportunities to improve patient care in a wide range of chronic illnesses through informatics solutions.</p

TME6/365: Teleconsultation and Telescreening for Eye Diseases

INTRODUCTION: The estimated prevalence of diabetes mellitus is 6.6 % of the population in Western industrial countries. Approximately 85% of the population eventually develop a diabetic retinopathy (DR). About half of the patients with the severe form of DR - proliferative DR will become blind within 5 years. Blindness can be prevented by an early treatment avoiding severe status. Screening diabetes patients or even the general population at risk can make the difference between blindness and cure. Telescreening is one approach to establish such a service. Cataract is an eye disease, mainly of the ageing population, changing the properties of the eye lens by becoming opaque. Replacing this lens by an artificial one is the current approach to treatment. This surgery gives back the patients their visual acuity before the lens became opaque. Pre- and postoperative care is given by private ophthalmologists. The surgery itself is performed in hospitals or by other private surgeon-ophthalmologists. Therefore the patient has to visit two different ophthalmologists. Getting all partners within this process together by means of telecommunication solutions can reduce the effort and strengthen the communication and co-operation. METHODS: A telescreening system for DR has been developed. Two 45° fundus images per eye are taken by a Topcon fundus camera with a dilated pupil. The digital images (Topcon image net) are sent together with additional data about the patient to graders. Special software based on Internet standards has been developed combining images and other data in one report. Investigating perioperative cataract - OP - management a combination of synchronous and asynchronous teleconsultation has been realized using PGP-encrypted Internet e-mail and commercially available videoconferencing equipment. RESULTS: Regarding telescreening two studies have been performed. The first multi-center study dealt with diagnostic accuracy of the telescreening solution versus a gold standard. The quality of the telescreening has been proven as high enough to apply this technology for screening of diabetes patients. A second study was about the diagnostic accuracy of the approach to detect macular edema. The perioperative cataract - OP - management has been accepted by the patients. Their effort has been reduced by one physician's visit. The co-operation between the ophthalmologists and the surgeon was improved. DISCUSSION: Both teleconsultation applications show their feasibility and applicability in the domain of ophthalmology. Both are prototype solutions. The next steps have to be a broader application and well-defined outcome studies to make it real-life services