Information System for Integration of Genetic Information and Clinical Knowledge.

This paper deals with a developed information system called a Personal Genetic Card (PGC). The system aims to integrate the known clinical knowledge (interpretations and recommendations) linked to genetic information with the analysis results of a patient. Genetic information has an increasing influence on the clinical decision of physicians as well as other medical and health services. All these services need to connect the genetic profile with the phenotypes such as drug metabolization, drug toxicity, drug dosing, or intolerance of some substances. It still applies that the best way to represent data of medical records is a structured form of record. Many approaches can be used to define the structure (syntax) of the record and the content (semantics) of the record and to exchange data in forms of various standards and terminologies. Moreover, the genetic analysis field has its terminology databases for representing genetic information (e.g. HGNC, NCBI). The next step is to connect the genetic analysis results with c clinical knowledge (interpretation, recommendation). This step is crucial because the genetic analysis results have clinical benefits if we can assign them to some valid clinical knowledge. And the best final result is when we can make a better recommendation based on the genetic results and clinical knowledge. Genetic knowledge databases (e.g. PharmGKB, SNPedia, ClinVar) contain many interpretations and even recommendations for genetic analysis results based on different purposes. This situation is appropriate for developing the PGC system that takes inspiration from case-based reasoning in purpose to allow integration of the assumptions and knowledge about phenotypes and the real genetic analysis results in the structured form.

Towards Personalized Medication.

The paper describes some aspects of precision medicine and shows the importance of pharmacokinetics and pharmacodynamics for the therapeutic drug monitoring and model-informed precision dosing. A key element in the design of the pharmacokinetics and pharmacodynamics (PKPD) models is relevant literature search that represents an essential step in the procurement and validation of a new drug. Available search engine resources do not offer specific functionalities that are required for efficient and relevant search in reliable literature sources. We present a prototype of such an intelligent search engine and show its results on real project data.

Personalized Monitoring and Assistive Systems: Case Study of Efficient Home Solutions.

The rapid emergence and proliferation of connected medical devices and their application in healthcare are already part of the Healthcare Internet of Things (IoT) - as this area started to be named. Their true impact on patient care and other aspects of healthcare remains to be seen and is highly dependent on the quality and relevancy of the data acquired. There is also the trend of application of IoT in telemedicine and home care environment. Currently many research groups focus on design and development of various solutions that can assist elderly and handicapped people in their home environment. However, many of these solutions are sophisticated and require advanced users that are able to control the device, handle error states and exceptions. They are frequently using expensive technologies that are good for laboratory environment but they are not affordable for many elderly or handicapped persons. In the paper we will analyze the current situation, present identified needs of elderly population and propose potential solutions. On a case study of efficient home solution of a personalized and assistive system we will show possibilities of technologically simple solutions using off-the-shelf devices and elements.