Information System for Integration of Genetic Information and Clinical Knowledge

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68407700%3A21460%2F22%3A00364233" target="_blank" >RIV/68407700:21460/22:00364233 - isvavai.cz</a>

Alternative codes found

RIV/68407700:21730/22:00364233

Result on the web

<a href="https://doi.org/10.3233/SHTI220985" target="_blank" >https://doi.org/10.3233/SHTI220985</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3233/SHTI220985" target="_blank" >10.3233/SHTI220985</a>

Result language

angličtina

Original language name

Information System for Integration of Genetic Information and Clinical Knowledge

Original language description

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.

Czech name

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Czech description

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Type

D - Article in proceedings

CEP classification

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OECD FORD branch

20601 - Medical engineering

Project

<a href="/en/project/FV30421" target="_blank" >FV30421: GenomKit - Progressive technology for the rationalization of personalized pharmacogenomics, nutrigenomics and sports medicine</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2022

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Article name in the collection

Studies in Health Technology and Informatics

ISBN

9781643683485

ISSN

0926-9630

e-ISSN

—

Number of pages

6

Pages from-to

208-213

Publisher name

IOS Press

Place of publication

Oxford

Event location

Oslo

Event date

Nov 8, 2022

Type of event by nationality

WRD - Celosvětová akce

UT code for WoS article

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