Download - Plaiasu Vasilica - Confer Int A EUROPLAN
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Conferinta ANBRaRo-EUROPLAN
Informare, acces la informatii
Dr.Plaiasu Vasilica, medic specialist genetica medicalaIOMC Alfred Rusescu, Bucuresti
18-19 iunie 2010Palatul Parlamentului
Bucuresti
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Recomandari ale Consiliului UE (2009/C151/02) – I
17. Reunirea expertizei nationale in domeniul bolilor rare si sustinerea punerii in comun a acestei expertize cu omologii europeni
- Instrumente de diagnostic si ingrijire medicala, precum si educatie si ingrijire sociala
- Educatie adecvata si training pentru profesionisti
- Training medical in domenii relevante pentru diagnostic si management al bolilor rare
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Recomandari ale Consiliului UE (2009/C151/02) - II
- Dezvoltarea ghidurilor europene privind testele de diagnostic sau screening populational, cu respectarea deciziilor nationale si competentelor
- Evaluarea rapoartelor intre statele membre privind medicamentele orfane, in vederea minimizarii intarzierilor de acces la aceste tratamente pentru pacientii cu boli rare
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Prevederi din Planul National pentru Boli Rare
• Promovarea Planului Naţional de Boli Rare în rândul personalului medical, al pacienţilor şi publicului larg
• Îmbunătăţirea accesului la informare privind bolile rare (helplines, tel-verde, Orphanet, Centru de informare pentru boli rare);
• Distribuirea pe scară largă a listei centrelor de referinţă
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IMPACTUL INFORMATIEI
CLINICIAN6000 – 8000
boli rare
75%75% din bolile rare afecteaza copiiicopiii 80%80% din bolile rare au origine geneticaorigine genetica
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INFORMATIA - DE UNDE???
PREGATIREA PERSONALA INTERDISCIPLINARITATEA
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PACIENT
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Alegerea informata
ActiuniActiuni
RezultateRezultate
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PACIENT
DIAGNOSTIC PRECOCE
DIAGNOSTIC CORECTAplicarea metodei terapeutice specifice
Profilaxie, consiliere si sfat genetic
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B. Căi de acces la informatii
• Internet• Asociatii de pacienti• Baze de date• Centre de informare pentru boli rare• Centre de expertiza, retele europene de expertiza• Specialisti MF specialisti pentru copii si adulti• Brosuri• Manifestari stiintifice
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La ce “usa” batem? Si…de ce?
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Surse de informareOMIM=Online Mendelian Inheritance in MenOrphanet = baza de date on - line cu informatii despre bolile rareGeneclinicsEURORDIS=European Organisation for Rare DiseaseEUROCAT=European Surveillance of Congenital AnomaliesECARUCA=European Cytogeneticists Association Registry of Unbalanced Chromosome AberrationSSIEM=Society for the Study of Inborn Errors of Metabolism ESID= European Society for ImmunodeficienciesESDN=European Skeletal Dysplasia Network
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Surse de informare
Exista peste 1700 organizatii de pacienti in Europa, care ofera informatii si asistenta pacientilor
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Dezvoltarea locala a unei retele multidisciplinare
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Servicii bazate pe necesitati functionale ale pacientilor nediagnosticati
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Centrul IOMC Bucuresti(I)
• PERSONAL:- 1 medic specialist- 2 biologi- 1 asistent
• COLABORARI:- asociatiile de pacienti
cu boli rare (Prader-Willi, Williams)
• ACTIVITATI SPECIFICE:- Diagnostic clinic pentru boli
genetice, consiliere si sfat genetic (in cadrul cabinetului de genetica din ambulatoriul spitalului)
- In laboratorul de genetica: teste de citogenetica conventionala si moleculara(FISH) pentru diagnostic postnatal
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Centrul IOMC Bucuresti(II)• Este partener in cadrul Programelor Nationale de
Sanatate - V. Programul naţional de sănătate a femeii şi copilului:
- profilaxia şi diagnosticul pre- şi postnatal al malformaţiilor şi/sau al unor afecţiuni genetice
- screening neonatal pentru depistarea fenilcetonuriei şi hipotiroidismului congenital, precum şi confirmarea diagnosticului şi tratamentul specific al cazurilor depistate;
- diagnosticul precoce, prevenţia primară şi secundară, precum şi monitorizarea unor afecţiuni cronice la copil (fibroza chistica, imunodeficiente, talasemie...)