Similarities and differences between Rare Cancers and Rare Diseases
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Transcript of Similarities and differences between Rare Cancers and Rare Diseases
Similarities and differences between rare cancers and rare diseases
Jan Geissler, EUPATI / CML Advocates NetworkKathy Oliver, International Brain Tumour Alliance
Ariane Weinman, EURORDIS
Rationale and action
RD community and RC community are often regarded as two different worlds.
This is far from reality as the patients share the same burden: the rarity and the many resultant complex and often devastating challenges.
Rare cancer patients often fall between the world of rare diseases and the world of “big oncology”
Kathy Oliver, Jan Geissler, supported by Ariane Weinman (EURORDIS), mapped out the similarities and differences between RC and RD
Consultation of EURORDIS Policy Action Group, Rare Cancers Europe, patient orgs from 21 countries. Published 21 November 2016
EURORDIS.org Website – download here:About EURORDIS > Library > Publications
1. Concept of rarity
Challenges are very similar
Different heterogeneity: 6000 RD vs. 198 RCs
Incidence (RC) vs. prevalence (RD)
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2. Severity and course of disease
Majority of RD and RC are life threatening
3. Pediatric population
RD: over 50% affect children RC: incidence of pediatric cancers relatively low (2% of
RC)
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4. Public health challenge
Similar, while awareness of both RC and RD has dramatically increased, unmet needs are not high enough on political agenda and list of priorities
5. Patient empowerment
Both RC and RD share need of patients and families being well informed and part of decision process
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6. Research
Both RC and RD share need for increased research efforts. Insufficient attention and interest from academic research, pharma and funders
Patient involvement in all aspects of research, regulatory, ethics, HTA often essential
RC take synergistic benefit from research on common cancers (e.g. common pathways, oncology organisation)
More difficult for RD to take advantage of research in other fields: more heterogeneous
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7. Delay in accessing diagnosis
RD patients and RC patients face the same challenges in accessing a correct and timely diagnosis
Huge discrepancies amongst EU MS between the services offered in different centres
Symptoms of RC often misunderstood, causing delay, but once tumour is found, pathological diagnosis usually obtained quickly
RDs are often subject to significant delay regarding a proper clinical diagnosis.
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8. Screening
Screening in RC, i.e. screening of genome or screening for targets for specific drugs, not used or routinely done
It is widely accepted that 80% of RDs are of genetic origin. Screening programmes are intended to identify the inherited probability of an RD. Genetic testing policies varies nationally, matter of advocacy. Mapping of the human genome bring hope to RD patients and families.
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9. Prevention
Prevention is not often applicable to RD and RC RCs are mainly acquired diseases, although primary
prevention may be applicable in certain RC. Primary prevention e.g. avoidance of carcinogens and toxic agents, healthy lifestyle; secondary prevention (population screening, early detection) often not applicable.
Some (not many) RDs can be detected through screening / genetic testing to confirm or not the presence of an inherited disease. Newborn screening may allow care protocol halting disease progress. However, not available to most RD.
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10. Centers of Expertise
RD and RC need to be treated in a specialised care unit, as condition requires high level of expertise, multidisciplinary care
RC treated in oncology centers, infrastructure is in place, even though specific RC capacity often lacking. Referral to specialized onc center for specific RC.
Heterogenity of RD makes finding healthcare specialist difficult. Some MS have designated national centers of expertise for RD.
National Cancer Plans and National RD Plans often not well bridged. NCPs often not cover RC well.
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11. European Reference Networks
CBH directive & addendum introduces setup of ERNs Addendum defined 22 thematic RD groupings, including 1
on RC, 1 on hematology (incl malignant), 1 on pediatric (ExPO-R-Net pilot)
Implementation on RC very unclear (Rare Cancer Europe suggested 12 families of RC as separate ERNs)
ePAG structure established by EURORDIS to ensure patient involvement in governance and implementation (22 groupings, incl 1 for rare cancers, 1 for hematology)
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12. Training of medical doctors and HCPs
Patients living with RC and RD often report that awareness and training of conditions should be increased amongst HCP
Courses for medical students on RC and RD Specialist training for nurses and other HCPs Virtual learning tools and educational resources Involve patient organisations systematically as experts on
rare conditions
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13. Access to treatments: Sharing of best practices, clinical guidelines, protocols
Sharing of best practices, clinical guidelines and protocols for care and management of patients is crucial both for RD and RC given rarity and scattered expertise
RC might provide learning to RD community about sharing protocols within and across MS
Some RC have guidelines established (national and pan-EU)
RD guidelines developed in some countries in RD plans, “RARE-Best Practices” facilitates sharing, evaluation, development of best practice guidelines
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14. Healthcare and social costs
Healthcare and social costs of RC and RD can be much higher than for those with a “common” condition, because treatments often very expensive and not always reimbursed (e.g., off label use, therapy rejected by HTA because it has been deemed to be not cost effective, etc).
Higher social and economic burden on the patients and families should be emphasized, quantified, addressed
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15. Orphan Drug Development
Regulation 141/2000 on orphan medicinal products applies to both RC and RD
112 orphan medicinal products received EU market authorization, about one third for RC
16. HTA/Value Assessment and Access
EUCERD adopted recommendation on Clinical Added Value of Orphan Medicinal Products Information Flow (CAVOMP) in Sept 2012
Mechanism of Coordinated Access to orphan medicinal products (MoCA) initiative of EC assess added value of OMP
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17. Clinical Trials in Small Populations
Clinical trials in small and vulnerable populations of RC and RD face same major difficulties that are often challenging to overcome for the sponsors and researchers for legal, regulatory and financial reasons
Clinical Trial designs need to be adapted
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18. Registries
Registries have high relevance for both RD and RC. EC Joint Research Centre wants to harmonize info
systems Synergies between RD and RC registration should be
sought RC registries started long time ago and are well
structured, e.g. within population-based registries and pediatric cancer registries
Many RD do not have a registry, and amongst existing registries, few are well structured and many lack funding.
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19. Biobanks
Some universal cancer biobanks exist which are also used for RC biobanking, as well as specific RC biobanks
EuroBioBank is only network dedicated specifically to RD research in Europe (25 members, 21 biobaks, 9 countries)
BBMRI-ERIC aims at establishing, operating, and developing a pan-European distributed research infrastructure of biobanks and biomolecular resources.
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20. Psychosocial aid
Due to rarity, patients living with a rare disease or a rare cancer face the difficulty of finding social services and psychological support adapted to their needs.
For RC, discipline of psycho-oncology (and e.g. IPOS) has been established
Given heterogeneity of RD, social support and psychological support vary greatly according to type of disease, national healthcare and social system.
EURORDIS has led a work package within EUCERD Joint Action (2012-2015) on ‘Specialised Social Services and Integration of RD into Social Policies and Services’.
Patient organisations major players in providing support, but lack recognition
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21. (Long-term) Follow-up of rare disease survivors and childhood cancer survivors
In RC, important to address long-term toxicity, cancer treatment consequences and quality of life – all aspects of cancer survivorship
Due to heterogenity of RD, situation faced by the patient can be very different from one disease to another, which makes it very difficult to provide an overall assessment.
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