scholarly journals Prioritizing Rare Diseases: Psychological Effects Influencing Medical Decision Making

2017 ◽  
Vol 37 (5) ◽  
pp. 567-576 ◽  
Author(s):  
Johanna Wiss ◽  
Lars-Ake Levin ◽  
David Andersson ◽  
Gustav Tinghög
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
Postal Survey ◽  
Psychological Effects ◽  
Medical Decision ◽  
Common Disease ◽  
Common Diseases ◽  
General Preference ◽  
Societal Preferences

Background. Measuring societal preferences for rarity has been proposed to determine whether paying premium prices for orphan drugs is acceptable. Objective. To investigate societal preferences for rarity and how psychological factors affect such preferences. Method. A postal survey containing resource allocation dilemmas involving patients with a rare disease and patients with a common disease, equal in severity, was sent out to a randomly selected sample of the population in Sweden (return rate 42.3%, n = 1270). Results. Overall, we found no evidence of a general preference for prioritizing treatment of patients with rare disease patients over those with common diseases. When treatment costs were equal, most respondents (42.7%) were indifferent between the choice options. Preferences for prioritizing patients with common diseases over those with rare diseases were more frequently displayed (33.3% v. 23.9%). This tendency was, as expected, amplified when the rare disease was costlier to treat. The share of respondents choosing to treat patients with rare diseases increased when presenting the patients in need of treatment in relative rather than absolute terms (proportion dominance). Surprisingly, identifiability did not increase preferences for rarity. Instead, identifying the patient with a rare disease made respondents more willing to prioritize the patients with common diseases. Respondents’ levels of education were significantly associated with choice—the lower the level of education, the more likely they were to choose the rare option. Conclusions. We find no support for the existence of a general preference for rarity when setting health care priorities. Psychological effects, especially proportion dominance, are likely to play an important role when preferences for rarity are expressed.

scholarly journals A Novel Algorithm for Rare Disease Gene Prediction Based on Phenotypic Similarity

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A497-A498
Author(s):  
Yibo Fan ◽  
Jason Flannick
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Cross Validation ◽  
Disease Gene ◽  
Common Disease ◽  
Genome Wide Association Studies ◽  
Phenotypic Similarity ◽  
Common Diseases ◽  
Number Of Genes ◽  
Causal Genes

Abstract Genetic studies have yielded only a limited number of genes clearly implicated in endocrine disorders, in large part due to two current knowledge gaps. First, genome wide association studies (GWAS) of common diseases have yielded many associations that are hard to translate to causal genes and pathways. Second, whole exome sequencing (WES) studies have transformed diagnosis of rare diseases but often yield many variants of unknown significance that cannot yet be reliably prioritized for disease causality. We hypothesized that phenotypically similar diseases are more likely to share causal genes and pathways. Thus, genes implicated in a (rare or common) disease should be strong candidates to also contribute to a phenotypically similar disease. To test this hypothesis, we aggregated genes (a) for 3,209 rare diseases from OMIM and (b) nearby GWAS signals for 2,316 common diseases from the NHGRI/EBI GWAS catalog. We measured phenotypic similarity based on proximity in the Experimental Factor Ontology (EFO). Across ~2.7M common disease pairs, the number of genes shared increased with phenotypic similarity (Spearman p < 0.1). Similarly, across ~7.4M common and rare disease pairs and ~5.1M rare disease pairs, phenotypic similarity was significantly higher for disease pairs with at least one shared gene compared to those with no shared genes (T-test p < 0.05). We next developed an algorithm to predict genes for a rare disease based on its phenotypic similarity to other diseases and their known genes. Given a rare disease, the algorithm (a) identifies nearby diseases in the EFO; (b) collates their known genes and groups them into gene ontology (GO) terms; and (c) predicts the genes that occur in the most frequently observed GO term as potentially novel disease genes. We evaluated algorithm performance via cross-validation on rare diseases in OMIM. Across 140 rare endocrine diseases, the algorithm predicted on average 4.84 candidate genes with the correct (known but hidden by cross-validation) disease gene within the candidates 23.6% of the time; performance (5.11 candidates, 13.1% success rate) was similar for the other 3,069 rare diseases in OMIM. Examples include Leprechaunism (known gene INSR), for which genes INSR and TWIST2 were predicted based on phenotypic similarity to diseases Barber-Say syndrome, Rabson-Mendenhall syndrome and Gingival fibromatosis-hypertrichosis syndrome. Lubinsky syndrome (no known genes), for which genes ABCD1, LMNA, CNBP were predicted based on phenotypic similarity to diseases Ricker syndrome, X-ALD, DM1, Malouf syndrome, and Noonan syndrome. These data suggest that known phenotypic relationships and disease-gene databases can increase our ability to predict novel genes for less well-studied diseases, potentially speeding the biological translation of GWAS associations for common diseases and increasing the diagnostic yield of WES for rare diseases.

scholarly journals Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
D. Druschke ◽  
F. Krause ◽  
G. Müller ◽  
J. Scharfe ◽  
G. F. Hoffmann ◽  
...  
Keyword(s):  
Primary Care ◽  
Rare Disease ◽  
Rare Diseases ◽  
Primary Care Physicians ◽  
Postal Survey ◽  
National Plan ◽  
Major Step ◽  
Interface Management ◽  
Telephone Interviews ◽  
Center For Rare Diseases

Abstract Background The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National Plan of Action for People with Rare Diseases establishing better care structures. As primary care physicians, general practitioners and pediatricians play a central role in the diagnosis of patients with rare disease, as it is usually them referring to specialists and rare disease centers. Therefore, the interface management between primary care physicians and the centers for rare diseases is of particular importance. Methods In a mixed-method-approach an anonymous postal survey of 1,500 randomly selected primary care physicians in Germany was conducted with focus on (1) knowledge about a center for rare diseases and how it works, (2) in case of cooperation, satisfaction with the services provided by centers, and (3) expectations and needs they have with regard to the centers. In addition, in-depth telephone interviews were conducted with physicians who had already referred patients to a center. Results In total, 248 physicians responded to the survey, and 15 primary care physicians were interviewed. We observed a wide lack of knowledge about the existence of (45.6% confirmed to know at least one center) about how to access rare disease centers (50.4% of those who know a center confirmed knowledge) and what the center specializes in. In case of cooperation the evaluation was mostly positive. Conclusion To improve medical care, the interplay between primary care physicians and rare disease centers needs to be strengthened. (1) To improve the communication, the objectives and functioning of the rare disease centers should become more visible. (2) Other projects dealing with the analysis and improvement of interface management between centers and primary care physicians, as described in the National Plan of Action for People with Rare Diseases, need to be implemented immediately. (3) If the project is evaluated positively, the structures of TRANSLATE-NAMSE should be introduced nationwide into the German health care system to ensure comprehensive, quality-assured care for people with rare diseases with special consideration of the key role of primary care physicians—also taking into account the financial expenditures of this new care model.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background There are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Results A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p<0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

scholarly journals Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases – Is It Time to Update the EU’s Orphan Regulation? And if so, What Should be Changed?

2020 ◽  
Vol 5 (2) ◽  
pp. 1-11
Author(s):  
Denis Horgan ◽  
Barbara Moss ◽  
Stefania Boccia ◽  
Maurizio Genuardi ◽  
Maciej Gajewski ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
Regulatory Pathways ◽  
Regulatory Systems ◽  
Strategic Plans ◽  
The Us ◽  
Deliberative Processes ◽  
Process Coordination

Since developments are global in the healthcare arena, more should be done to align EU and other big markets’ regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their strategic plans in the field of orphan drugs, regulatory criteria and procedures to gain the designation, terms and classifications should be still harmonised. Aligning the criteria of prevalence and support to orphan medicines in the various jurisdictions internationally, would facilitate patient recruitment eventually at global level, so as to gain the data and the biological insights required to identify biomarkers and appropriate endpoints needed for progressing clinical development. A conducive regulatory environment can further support the development of medicines to treat rare diseases. Overall there is a need for joined-up regulatory process coordination. Better integration of regulatory pathways and better integration of regulatory systems, such as scientific tools and methods to generate evidence, would be helpful. There is a need to revise and agree the current frameworks to be improved which will take into account the considerations and challenges to diagnose and treat different rare diseases and improve quality of life. Deliberative processes with multi-stakeholders’ involvement for reimbursement should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further.

scholarly journals A discrete choice experiment investigating preferences for funding drugs used to treat orphan diseases: an exploratory study

2010 ◽  
Vol 6 (3) ◽  
pp. 405-433 ◽  
Author(s):  
Emmanouil Mentzakis ◽  
Patricia Stefanowska ◽  
Jeremiah Hurley
Keyword(s):  
Discrete Choice Experiment ◽  
Discrete Choice ◽  
Rare Diseases ◽  
Choice Experiment ◽  
Treatment Effectiveness ◽  
Public Funding ◽  
Common Disease ◽  
Orphan Diseases ◽  
Convenience Sample ◽  
Common Diseases

AbstractPolicy debate about funding criteria for drugs used to treat rare, orphan diseases is gaining prominence. This study presents evidence from a discrete choice experiment using a convenience sample of university students to investigate individual preferences regarding public funding for drugs used to treat rare diseases and common diseases. This pilot study finds that: other things equal, the respondents do not prefer to have the government spend more for drugs used to treat rare diseases; that respondents are not willing to pay more per life year gained for a rare disease than a common disease; and that respondents weigh relevant attributes of the coverage decisions (e.g. costs, disease severity and treatment effectiveness) similarly for both rare and common diseases. The results confirm the importance of severity and treatment effectiveness in preferences for public funding. Although this is the first study of its kind, the results send a cautionary message regarding the special treatment of orphan drugs in coverage decision-making.

Assessing the economic challenges posed by orphan drugs

2007 ◽  
Vol 23 (1) ◽  
pp. 36-42 ◽  
Author(s):  
Michael F. Drummond ◽  
David A. Wilson ◽  
Panos Kanavos ◽  
Peter Ubel ◽  
Joan Rovira
Keyword(s):  
Rare Diseases ◽  
Research Agenda ◽  
Cost Effective ◽  
Health Technology ◽  
Orphan Drugs ◽  
Patient Access ◽  
Standard Methods ◽  
Societal Value ◽  
Small Market ◽  
Societal Preferences

Historically, patients with rare diseases have been underserved by commercial drug development. In several jurisdictions, specific legislation has been enacted to encourage the development of drugs for rare diseases (orphan drugs), which would otherwise not be commercially viable. However, because of the small market, these drugs are often very expensive. Under the standard methods of health technology assessment (HTA) incorporating economic evaluation, orphan drugs do not usually prove to be cost-effective and this, coupled with their high cost, means that funding and patient access may be limited. However, these restrictions may not be in line with societal preferences. Therefore, this study discusses whether the standard methods of HTA are adequate for assisting decisions on patient access to and funding of orphan drugs and outlines a research agenda to help understand the societal value of orphan drugs and issues surrounding their development, funding, and use.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Materials and methods A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Results Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p < 0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background: It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Materials and Methods: A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.Results: Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p<0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions: Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

scholarly journals Share your rare with care: a patient corner for the European Reference Networks on Rare Disease

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
F Rubba ◽  
E Montella ◽  
I Carannante ◽  
M C Trummolo ◽  
A Simeone ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Social Issues ◽  
Orphan Drugs ◽  
University Hospital ◽  
Reference Network ◽  
Disease Heterogeneity ◽  
Health Technologies ◽  
European Reference Network ◽  
Coding Systems

Abstract Background The European Reference Network on Rare Disease (ERN) is focused on providing more equitable care across Europe and creates a network of both medical specialists and patient experts. One relevant objective of the activities planned into the ERNs is to address the economic dimensions of rare diseases in order to develop strategies to improve research and patients' access to orphan drugs (ODs) and highly specialized health technologies. The themes built in these preliminary years were directed toward guidelines and policies concerning reimbursement of ODs and direct provision by the healthcare system. Methods to proceed further in humanization of care we establish involvement of patients' associations in decision making and implementation of clinical practice guidelines. We built in Federico II University Hospital where 12 ERN were aligned a front office corner shared between patients association and hospital direction in order to face the patient difficulties along the pathway. The corner is open three times a week on the morning, with a dedicated phone number. Results Main issues regarded the understanding of the disease and the diagnosis (ie, lack of familiarity with the rare disease, disease heterogeneity, lack of established diagnostic criteria, misdiagnosis,) the development of effective treatments and the need for efficacy along the path way of care (ie, geographical limitations, disease coding systems, ethical and privacy issues). Fewer concerns were about the equity of access and other social pressures. Conclusions In general, in ERN context, few people declared to work in human and social issues, including research on patient's quality of life, patient's awareness, or methods for social support. Our findings demonstrated that Patients were positively affected from the corner initiative: this may ameliorate the use of infrastructures offering services, also that rarely known as national and international biobanking platforms, registries and networks. Key messages Humanization of care issues and strategies are nowadays mandatory in rare diseases. Patients are positively affected from shared initiatives.

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