While rare cancers (RCs) and rare diseases (RDs) face many similar challenges due to their rarity, there are also some key differences:
- RDs impact a larger number of different conditions (around 6000) compared to RCs (198 known types), and RDs are defined by prevalence while RCs by incidence.
- A majority of both RCs and RDs are life-threatening, but RDs more often affect children compared to RCs.
- Both communities struggle with delays in diagnosis, limited research funding, and a need for specialized treatment centers and clinical guidelines. However, RCs can take more advantage of research on common cancers, while RDs are more heterogeneous.
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Similarities and differences between Rare Cancers and Rare Diseases
1. Similarities and differences between
rare cancers and rare diseases
Jan Geissler, EUPATI / CML Advocates Network
Kathy Oliver, International Brain Tumour Alliance
Ariane Weinman, EURORDIS
jan@cmladvocates.net
2. 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
5. 1. Concept of rarity
Challenges
are very
similar
Different
heterogeneity:
6000 RD vs.
198 RCs
Incidence (RC)
vs. prevalence
(RD)
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6. 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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7. 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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8. 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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9. 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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10. 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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11. 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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12. 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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13. 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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14. 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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15. 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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16. 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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17. 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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18. 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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19. 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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20. 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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21. 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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22. 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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