3-6-20121Expertise for Rare DiseasesGeneral Introduction• Former Secretariat Steering Committee on Orphan Drugs (2001-2011)• Consultation on expertise for rare diseases Steering Committee(2010-2011)-> this presentation• Follow- up within ZonMw (Dutch organisation funding medical andhealthcare research):1) General information desk rare diseases and orphan drugs(2012-2015)2) Develop Dutch Plan for rare diseases, 2012 (www.npzz.nl)3) National and International co-operation on rare diseases andorphan drugs
3-6-20122Consultation: Criteria expertise for RareDiseasesMain goals• Develop criteria for evaluate expertise for rare diseases (based oninternational criteria for expertise)• Debate and check ‘the’ criteria with potential experts andpatients(organisations)• Gain support for monitoring the quality of expertise centres in thefuture• Consultation: mainly hospital care (university hospitals (UMC andNFU) and top referent (teaching) hospitals (STZ). Other Healthcaresectors are still ‘unrevealed’General starting points (why do we needexperts and centres?)• Knowledge is rare and should be improved• It is about patients’ needs (customized care)• Expertise should (en can) improve quality of care and quality oflife (secondary prevention and long life care)• Multidisciplinary teams are needed (complex diseases)• Central registration of data will booster research• Healthcare pathways need to be developed• Participation in European – worldwide networks is must for RD• Possibility for implementation of new techniques (also e-health)• Expertise centres should work together with expert-teams (de-central/regional) – shared care
3-6-20123Main Criteria• Multidisciplinary teams /collaboration• Long term care (secondary prevention and transition of care)• Number of patients/consults (knowledge can travel)• Consultation for patient and professionals (24x7)• Co-develop Healthcare Pathways – collaboration with caregiversin the regions• International basic and translational research• Translate research into new treatment and care• Training and education of professionalsComments / findings• Centres should be more virtual, gaining more knowledge is themain goal• Focus on fundamental research makes patients a research-object, a broader perspective is needed• Not just university hospitals are the expert centres, other goodexamples excist• It’s hard to get support for the work that’s done by passionatedprofessionals• Referral from patients to the centre is difficult (for severalreasons, e.g. late diagnosis, lack of awareness/urgency)• More transparency (where is expertise) and validation (by anindenpedent institution) is needed• Expertise centres should coordinate care (co-ordination centres)• Cure is not always possible, care is !• Orphan Drugs: Pharmaceutical companies play a role in buildingexpertise.
3-6-20124Conclusions• We have a lot of expertise in the Netherlands• We have a few centres that meet almost all criteriaBUT• Quality assessment is difficult if people are treated in different hospitalsand get different treatment. Which happens frequently.Centralised care and registration of data is needed.• Long life care is needed. For adult patients there is no follow-up,certainly not in a multidisciplinairy team.• Sharing knowledge is essential. Professionals should be stimulated tomake more use of the knowledge of others (prof. and patients) and notbe afraid to lose their patient (Shared care)• New knowledge can be translated to the daily care and preventcomplications (added value of an expert centre)• A lot of the centres are vulnerable (sustainability)• Results of the consultation expertise centre should be adopted in theNational PlanRecommendations• Multidisciplinary teams should also have paramedics andsocial workers in their team• More integrated care (could be coordinated byExpertcentre)• Research should also focus on social aspect (living with adisease)• Transition of care (esp. for adults. multidisciplinair)• Multidisciplinary healthcare pathways• Education and training of new experts (follow up)• Evaluation and monitoring centres on basis of criteria(independent organisation or partnership)• Financing multidisciplinary high level care
3-6-20125De behandeling van patiënten met sarcoïdose vindt inmiddels plaats inziekenhuis Gelderse Vallei in Ede. Vorig jaar stootte het UMC in Maastrichtde zorg af omdat deze te duur werd.Hoogleraar longgeneeskunde Marjolein Drent die de sarcoïdosepatienten inMaastricht behandelde, werkt nu in Ede.Het ziekenhuis neemt niet het hele pakket over, maar biedt Drent degelegenheid om vanuit Ede consulten te doen op verzoek van longartsen diedeze patiënten op hun spreekuur krijgen. De kosten worden gedragen doorzorgverzekeraar Menzis.Who is in charge?Topzorg Maastricht UMC verplaatst naar GelderseVallei18 april 2012European Reference centres• Cross Border Health Care (MS: October 2013)• Criteria from the consultation document meet the criteria RDTF,Orphanet, EUCERD• Dutch Centres are not yet officially designated therefore thiscannot be one of the criteria to select EU ref. centres (this notonly the case for the NL)• Criteria can be based on scientific output, prolonged excistanceand experience in research and multidisciplinary care, or in aspecial expertise (like diagnostics), referrals from outside theregions/country (patients or material)• Should knowledge travel or the patients?. Is it about expertise orabout centres (locations)/centres/networks• (…)