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Information System for Immunodeficiency Diagnostics


Development of Public Healthcare Information System for Diagnostics of Primary Immunodeficiency

Tech Area / Field

  • MED-DID/Diagnostics & Devices/Medicine
  • INF-SOF/Software/Information and Communications

3 Approved without Funding

Registration date

Leading Institute
National Academy of Sciences of the Republic of Belarus / Institute of Informatics Problems, Belarus, Minsk

Supporting institutes

  • Belarusian Research Center for Pediatric Oncology and Hematology, Belarus, Minsk


  • University of Debrecen / Department of Infectious and Pediatric Immunology, Hungary, Debrecen\nUniversity of Tampere / Institute of Medical Technology, Finland, Tampere\nUniversity of Montreal / Department of Pediatrics, Canada, QC, Montreal\nHoward Huges Medical Institute / Laboratory of Human Genetics of Infectious Diseases, France, Paris\nUniversitats Klinikum, Germany, Freiburg

Project summary

The aim of the proposed project: early detection of patients with primary immunodeficiency (PIDs), creation of Public Healthcare Information System aimed to improve the diagnostics.

Problem description. PIDs are among the most serious immunological disorders. Nowadays, more than 100 of genetically determined PIDs are revealed due to progress in modern genetics and immunology (Hans D. Ochs et al., Primary Immunodeficiency Diseases, 2007). A great persity of PIDs types considerably complicates their successful identification. For this reason leader PID-medical researchers turn attention to the efficient detection of different types of PIDs. About some new disorders of immunity are diagnosed in the world every year. Elicitation of the most significant immunologic and genetic factors for early diagnostic of PIDs is the world medical problem and efforts of PID-researchers should be consolidated.

Inpidual immunodeficiencies are rare, but altogether they occur in more than 1 to 2000 live births (F. Bonilla et al., 2005). Clinical presentation is highly variable, ranging from various patterns of microbial susceptibility to allergy, lymphoproliferation or autoimmune manifestations. Diagnostic procedures thus proceed along a kind of continuously revised algorithm. The information about genetic abnormalities not only provides basic clues as to how the immune system functions but also has important medical implications for diagnosis, genetic counseling, prognosis definition and the potential therapeutic intervention strategies that can be attempted in PIDs patients.

This proposal is necessitated for the following reasons: (i) increasing disorders of immunity in the childhood; (ii) deficiency of information about new disorders of immunity for paediatricians and specialists; (iii) difficult detection of some types of PIDs on early stages of diseases.

The participants from BRPCOH have studied different forms of disorders since 2003 and have a good experience in clinical (Aleshkevich S. et al, 2006), immunological (Belevtsev M., Shchebet S., 2006, 2007) and genetic (Belevtsev M., Migas A., 2007, 2008) diagnostics.

At present it is necessitated to intensify immunological, genetic researches and to develop more efficient methods of knowledge discovery for elicitation diagnostic factors and their combinations. These researches will be ground for earlier and more reliable PID-diagnostics. Early reliable diagnostics is very important for treatment and further quality of patient’s life.

One of the ways to solve this problem is development Public Healthcare Information System for Diagnostics of Primary Immunodeficiency (PHIS PIDs). Joint information space for paediatricians, PID-specialists and specialized centers allow to gather, accumulate and spread the information about PIDs. PHIS PIDs will also include ready-for-use pre-diagnostic and diagnostic Decision Support Systems (DSSs) and National Electronic Register of PIDs cooperated with European Society for Immunodeficiencies (ESID) Database. To develop ready-for-use pre-diagnostic and diagnostic DSSs it is necessary to perform medical data analysis and elicit diagnostic factors and their combinations for well-timed and more comprehensive diagnostic of the different forms of PIDs.

The participants from UIIP NASB propose the wide range of methods and models (Tom I., Krasko O. et al, 2005; Tom I., Novoselova N., 2004-2008, Tom I., Krasko O., Novoselova N. et al, 2004 -2007) for processing and intelligent data analysis, including neuro-fuzzy modeling, fuzzy clustering and genetic algorithms. These methods and algorithms will allow to find dependences and links in the multidimensional space of medical features of PIDs (clinical tests, patient-related and PIDs-related factors) and to elicit new factors and their combinations. Appropriate software will be developed and be applied for data processing and creating the DSS for the PID-groups classification and the DSS for the initial pediatric examination.

The effect of the project will be of high international value, because of first PHIS PIDs will be developed on the national level. Information System could be the ground for similar information medical systems in Europe not only for PIDs but another rare diseases and can be easy adopted for countries with similar system of pediatric healthcare (Baltic countries, East Europe countries, former USSR countries). Moreover, it is planned to consider new PID-diagnostic factors and verify them by collaborators for clinical practice.

Project participators: The team from BRCPOH consists of 15 highly qualified medical doctors and doctors of bilogical sciences (8 persons with PhD degree and two – with Professor, D.Med.Sc. degree). The team from UIIP NASB consists of 7 experienced informatic engeneers and programmers (3 persons with PhD degree and one – with Professor, D.Sc. degree).

Expected results:

The proposed project is referred to the technology area – BIO-PAB/INF-SOF and category of technology development – Applied Research/Technology Development according the ISTC classifier.

The following results are expected to be achieved on the accomplishment of project tasks:

  1. DSS for preliminary diagnostics of PIDs for paediatrician (initial examination).
  2. DSS for diagnostics of different PID-groups in expert centre (enhanced examination).
  3. Intelligent methods, models, algorithms and software of data (clinical, immunology and genetic) analysis for elicitation of new diagnostic factors and their combinations.
  4. The National Electronic Register of PIDs with interaction with European ESID Database.
  5. Public Healthcare Information System for Diagnostics of PIDs including DSSs, the software of intelligent data analysis and the National Electronic Register of PIDs.

The rights for intellectual property that are generated during the course of the project will be regulated by the laws of the Republic of Belarus and by the procedures, which have been developed by the ISTC.

Expected Results Application. Project’s results will be applied at the national level in Belarus, including off-line using DSS at paediatrician workplaces, workstations at six diagnostic centers in Belarus, BRPCOH, Howard Hughes Medical Institute, University Hospital Freiburg, University of Debrecen. The DSSs for preliminary and enhanced diagnostics of PIDs and software for elicitation of diagnostic factors and their combinations will be tested and will be presented as -versions of commercialized products. The handbook “Information technology in PIDs diagnostics” will be prepared.

The impact of the results on the progress:

Strategy: Enhancing level of medical services for PID medical care at the national level.

Technology: Bringing advanced information technology in public healthcare, new methods of knowledge discovery from data, decision support systems in healthcare.

Society and economy: Improving the success rate in resolving difficult medical cases, saving children’s lives. Furthermore, such improved medical decision making will result in lowering medical cost and/or treatment duration.

Meeting ISTC Goals and Objectives:

Execution of the project will allow:

  • Providing 9 weapon scientists and engineers/programmers who are among the main participators of the project (more than 62%) and were involved in fundamental exploring and designing of biological weapons or in researches of data collection and handling for missile guidance.
  • Promoting integration of the participants of the project into international scientific community: participation in the international meetings and workshops, joint publications, project work coordination, results verifications.
  • Supporting basic and applied research and technology development for peaceful purposes in field of healthcare.
  • Contributing to the solution of national and international problem – early detection of primary immunodeficiency.
  • Reinforcing the transition to market economies responsive to civil needs by commercializing main project results

Scope of Activities: Project duration: 36 months. Participants: 22 specialists and 2 technical assistants (total effort – 8,726 person*days). The proposed project includes five interrelated tasks performed as partly parallel stages: Task 1 – 865 person*days; Task 2 – 1,065 person*days; Task 3 – 3,496 person*days; Task 4 – 2,085 person*days; Task 5 – 1,215 person*days.

The participants of the project from BRCPOH will implement scientific research in the field of immunology and genetics. The participants from UIIP NASB will develop new methods of data analysis, elaborate algorithms and software.

Role of Foreign Collaborators/Partners:

The scope of cooperation with the foreign collaborators include the following: information exchange and joint workshops in order to discuss the course of project implementation and estimate scientific and technical level of the obtained results; cross-examination tests of results to be obtained during the project. Moreover, the foreign collaborators will carry out the following:

  • MD, PhD J.-L. Casanova (Howard Hughes Medical Institute, President European Society for Immunodeficiencies (ESID), France): management of information exchange in PIDs scientific area during the project implementation, provide comments to the technical reports, coordination the work with specialists from EU country.
  • Prof., MD, PhD L. Maródi (University of Debrecen, Hungary): methodological support for investigation of immunological and genetic features of PID-groups, participation in monitoring of project activities for tasks 3, management of join seminars and workshops, including J-meeting of ESID.
  • Dr. G. Kindle (University Hospital Freiburg, Germany): provide comments to the technical reports; testing the created database software and decision support systems, developed during the project; participation in monitoring of project activities for tasks 4 - 5, coordination the work with Online ESID Database.

Technical Approach and Methodology:

The proposed project includes five interrelated tasks 1-5 performed as partly parallel stages.

The registration form is developed for preliminary detection PID-suspected patients visiting paediatrician. The results of preliminary examination will be saved for further investigation (task 1). DSS for preliminary diagnostics of will indicate three patients groups of immunity disorders: standard, intermediate and high risk. Patients with intermediate and high risk should be exanimated by more complicated analyses. Patient’s data are transferred by DSS for preliminary diagnostics of PIDs to database (task 2). Additional analyses results are also saved in the database. Precise diagnosis can be determined by DSS enhanced examination (task 2). The database is knowledge discovery source for task 3. Cases with PID diagnosis will be transfered to National Electronic Register of PIDs (task 4) that interact with ESID. All components will be integrated and tested (task 5). Modern data processing, transformation and storing information technologies will ensure that PHIS PIDs will be created and functionate on national level. New information about PIDs would be easy spread.

The participants from BRPCOH provide following researches: 1) Advance medical examination; 2) Immunological diagnostics and research of PID; 3) Genetic testing. Participants from UIIP NASB provides the complex of intelligent methods and models for processing and data analysis, including neuro-fuzzy modeling, fuzzy clustering and genetic algorithms for elicitation of new diagnostic factors and their combinations, generation of the set of rules for different PID-groups classification. This work is based on immunology and genetic investigations at BRCPOH. Appropriate software will be developed. Moreover, will be created the database of patients that pass examination on PIDs and the National Electronic Register of PIDs.

This software will be integrated in PHIS PIDs on PC platform operating in Windows 2000/XP/Vista environment and MS SQL Server 2000/2005. PHIS will be based on “client – Web-server – DB server” technology.


The International Science and Technology Center (ISTC) is an intergovernmental organization connecting scientists from Kazakhstan, Armenia, Tajikistan, Kyrgyzstan, and Georgia with their peers and research organizations in the EU, Japan, Republic of Korea, Norway and the United States.


ISTC facilitates international science projects and assists the global scientific and business community to source and engage with CIS and Georgian institutes that develop or possess an excellence of scientific know-how.

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