GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders.

Intellectual disability with or without manifestations of autism and/or epilepsy affects 1-2% of the population, and it is estimated that more than 30-50% of these cases have a single genetic cause. More than 1000 genes and recurrent chromosomal abnormalities are involved in these genetic forms of neurodevelopmental disorders, which often remain insufficiently described in terms of clinical spectrum, associated medical problems, etc., due to their rarity and the often-limited number of patients' phenotypes reported. GenIDA is an international online participatory database that aims to better characterise the clinical manifestations and natural histories of these rare diseases. Clinical information is reported by parents of affected individuals using a structured questionnaire exploring physical parameters, cognitive and behavioural aspects, the presence or absence of neurological disorders or problems affecting major physiological functions, as well as autonomy and quality of life. This strengthens the implication in research of the concerned families. GenIDA aims to construct international cohorts of significant size of individuals affected by a given condition. As of July 2022, GenIDA counts some 1545 documented patient records from over 60 nationalities and collaborates with clinicians and researchers around the world who have access to the anonymized data collected to generate new, medically meaningful information to improve patient care. We present the GenIDA database here, together with an overview of the possibilities it offers to affected individuals, their families, and professionals in charge of the management of genetic forms of neurodevelopmental disorders. Finally, case studies of cohorts will illustrate the usefulness of GenIDA.

PoleSat's Modelling a Reorganization of Vascular Catheterization Provision at the Territorial Hospital Grouping Level.

Since a French organization (2016) has defined "the territorial hospital groupings", public hospitals must share medical-economic knowledge and decision-makers expect prospective analyses. PoleSat aims, quick hospital-catchment area modellings, completed by population analyses. Modellings are based on "diagnostic and interventional vascular catheterizations" acts and Nouvelle-Aquitaine, and they are carried out 3 times, through the graphical user interface's main-setting values, coupled with 3 activity-scenarios. Scenario results cannot confirm the NA02-Atlantique's H0. The experts have approved PoleSat's method as a robust help-tool; therefore they project to repeat its usages.

Polesat-Web-2018: A Simulation IT Tool with Immediate Prospective and Strategic Views of Hospital Spatial Planning.

Medical geo-informatics allows the Health world to address major challenges thanks to attractive concepts, methods and user-friendly IT. PoleSat-web-2018 presents a decision support system - a modelling "variable geometry" IT tool for simulation of hospital spatial planning. The outputs enable quasi-instantaneous analytic visualization at several geographic levels. PoleSat-web-2018 provides prospective views of hospital catchments (by grouping, closing) and proves to be relevant for the French planners of the Ministry of Health.

PoleSat_2018: A Strategic IT Tool for Spatial Simulation Modelling of Hospital Planning.

Geomatics becomes a major field of science facing challenges to assist medical informatics and health decision makers thanks to attractive concepts, methods and easy, user-friendly-way IT technologies. PoleSat_2018 presents a web-based graphical user interface with an embedded optimized and automated algorithm. It is primarily geared for geomatics non-specialists and allows computer simulations by modelling scenarios of hospital grouping and/or closure. The consultation, reflection, prospective views, offered in a very short time to policy makers will find a successful support for health planning strategic decisions.

Cerberus, an Access Control Scheme for Enforcing Least Privilege in Patient Cohort Study Platforms : A Comprehensive Access Control Scheme Applied to the GENIDA Project - Study of Genetic Forms of Intellectual Disabilities and Autism Spectrum Disorders.

Cohort Study Platforms (CSP) are emerging as a key tool for collecting patient information, providing new research data, and supporting family and patient associations. However they pose new ethics and regulatory challenges since they cross the gap between patients and medical practitioners. One of the critical issues for CSP is to enforce a strict control on access privileges whilst allowing the users to take advantage of the breadth of the available data. We propose Cerberus, a new access control scheme spanning the whole life-cycle of access right management: design, implementation, deployment and maintenance, operations. Cerberus enables switching from a dual world, where CSP data can be accessed either from the users who entered it or fully de-identified, to an access-when-required world, where patients, practitioners and researchers can access focused medical data through explicit authorisation by the data owner. Efficient access control requires application-specific access rights, as well as the ability to restrict these rights when they are not used. Cerberus is implemented and evaluated in the context of the GENIDA project, an international CSP for Genetically determined Intellectual Disabilities and Autism Spectrum Disorders. As a result of this study, the software is made available for the community, and validated specifications for CSPs are given.