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 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 methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research

2014 ◽  
Vol 22 (1) ◽  
pp. 76-85 ◽  
Author(s):  
Rémy Choquet ◽  
Meriem Maaroufi ◽  
Albane de Carrara ◽  
Claude Messiaen ◽  
Emmanuel Luigi ◽  
...  
Keyword(s):  
Data Collection ◽  
Rare Disease ◽  
Rare Diseases ◽  
Care Coordination ◽  
Minimum Data Set ◽  
National Plan ◽  
Data Set ◽  
Common Data Elements ◽  
Minimum Data ◽  
Data Elements

Abstract Background Although rare disease patients make up approximately 6–8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented. Methods To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records. Results The F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries. Conclusions The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients’ eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here.

Primary care physicians' attitudes towards cognitive screening: findings from a national postal survey

2009 ◽  
pp. n/a-n/a ◽  
Author(s):  
Panayiotis Iracleous ◽  
Jason Xin Nie ◽  
C. Shawn Tracy ◽  
Rahim Moineddin ◽  
Zahinoor Ismail ◽  
...  
Keyword(s):  
Primary Care ◽  
Primary Care Physicians ◽  
Postal Survey ◽  
Cognitive Screening

scholarly journals Prevalence and practice for rare diseases in primary care: a national cross-sectional study in the USA

BMJ Open ◽  
2019 ◽  
Vol 9 (4) ◽  
pp. e027248 ◽  
Author(s):  
Ara Jo ◽  
Samantha Larson ◽  
Peter Carek ◽  
Michael R Peabody ◽  
Lars E Peterson ◽  
...  
Keyword(s):  
Primary Care ◽  
Rare Diseases ◽  
Primary Care Physicians ◽  
Primary Outcome ◽  
Primary Care Practice ◽  
Cross Sectional Study ◽  
Care Practice ◽  
Sectional Study ◽  
Cross Sectional ◽  
The Usa

ObjectivesThere are more than 7000 rare diseases in the USA, and they are prevalent in 8% of the population. Due to life-threatening risk and limited therapies, early detection and treatment are critical. The purpose of this study was to explore characteristics of visits for patients with rare diseases seen by primary care physicians (PCPs).DesignThe study used a cross sectional study using a national representative dataset, the National Ambulatory Medical Care Survey for the years 2012–2014.SettingPrimary care setting.ParticipantsVisits to PCPs (n=22 306 representing 354 507 772 office visits to PCPs).Primary outcome measuresPrevalence of rare diseases in visits of PCPs was the primary outcome. Bivariate analyses and logistic regression analyses were used to compare patients with rare diseases and those without rare diseases and examined characteristics of PCP visits for rare diseases and practice pattern.ResultsAmong outpatient visits to PCPs, rare diseases account for 1.6% of the visits. The majority of patients with rare diseases were established patients (93.0%) and almost half (49.0%) were enrolled in public insurance programmes. The time spent in visits for rare diseases (22.4 min) and visits for more common diseases (21.3 min) was not significantly different (p=0.09). In an adjusted model controlling for patient characteristics (age, sex, types of insurance, reason for this visit, total number of chronic disease, having a rare disease and established or new patient), patients with rare diseases were 52% more likely to be referred to another provider (OR 1.52, 95% CI, 1.01 to 2.28).ConclusionsVisits for rare diseases are uncommon in primary care practice. Future research may help to explain whether this low level of management of rare diseases in primary care practice is consistent with a goal of a broad scope of care.

Questionnaire order significantly increased response to a postal survey sent to primary care physicians

2008 ◽  
Vol 61 (2) ◽  
pp. 177-185 ◽  
Author(s):  
Frances J. Drummond ◽  
Linda Sharp ◽  
Anne-Elie Carsin ◽  
Tracy Kelleher ◽  
Harry Comber
Keyword(s):  
Primary Care ◽  
Primary Care Physicians ◽  
Postal Survey

Sexually transmissible infection management practices among primary care physicians in Singapore

Sexual Health ◽  
2008 ◽  
Vol 5 (3) ◽  
pp. 265 ◽  
Author(s):  
Roy K. W. Chan ◽  
Hiok Hee Tan ◽  
Martin T. W. Chio ◽  
Priya Sen ◽  
Kar Woon Ho ◽  
...  
Keyword(s):  
Primary Care ◽  
Primary Care Physicians ◽  
Management Practices ◽  
Postal Survey ◽  
Contact Tracing ◽  
Disease Notification ◽  
Sti Testing ◽  
Sexually Transmissible Infections ◽  
Parenteral Penicillin ◽  
Syphilis Serology

Background: Primary care physicians manage a significant number of sexually transmissible infections (STI); however, there has not been a survey to assess the standard of medical care, completeness of notifications, provision of counselling and contact tracing by primary care physicians in Singapore. Methods: An anonymous postal survey was conducted in which 1557 questionnaires were mailed out to general practitioners (GP), and government primary care and emergency department doctors. Results: In all, 736 questionnaires (47.3%) were returned, and the majority of respondents were graduates from the local medical school, worked in solo or group practices and were males. One hundred and thirty doctors (17.7%) indicated they had received training attachments or postings in dermato-venereology departments. Almost one-third (30.8%) had been working as doctors for fewer than 10 years and 87.8% reported that they managed STI in their practice. Almost half did not investigate genital discharge patients, and one-third would still use ciprofloxacin to treat discharges. In the management of ulcers, over half indicated that they would order syphilis serology, and a significant minority would use parenteral penicillin. Most doctors provided history taking, screening for other STI, testing for HIV infection and STI counselling. A small minority of doctors undertook contact tracing, and there was incomplete notification of many STI. Conclusions: Overall medical management of STI by primary care physicians was acceptable. Skills in contact tracing and reminders on disease notification are areas that need particular attention.

scholarly journals Patient Empowerment in Rare Diseases Slovak Rare Disease Alliance − Contribution to the Creation of the National Plan of Rare Diseases in Slovakia Eurordis – Benefits of Membership / Pacientske organizácie v oblasti zriedkavých chorôb – ich činnosť aj pri príprave národného plánu v SR slovenská aliancia zriedkavých chorôb Eurordis - európska aliancia zriedkavých chorôb – výhody členstva

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 41-45
Author(s):  
B. Ramljaková
Keyword(s):  
Health Care ◽  
Rare Disease ◽  
Rare Diseases ◽  
Disease Patient ◽  
Insurance Company ◽  
National Plan ◽  
Patient Health ◽  
The Creation ◽  
Rare Disease Patient ◽  
Care Development

After the endorsement of the National strategy of rare disease patient health care development for years 2012 - 2013 by the government of the SR on October 24, 2012, it is important for all participants in the process to get involved. (Who are all the participants? - doctors, pharmacists, scientist, national authorities, regulators, health insurance companies, social insurance company, health care and social workers, pharmaceutical industry, but also politicians, patients and patient organizations) Based on the experience and problems which are being solved by patients, it is necessary for POs to focus on areas important for the creation of NP RD in the SR. These are most of all: complex approach to patients based on a multidisciplinary team, inclusion of patients into decision making - an educated patient is a prerequisite for this; specialized services for RD patients and their families; integration of RD patients into existing health care and social system and help lines. Slovak Alliance of Rare Diseases (Alliance RD) was founded and registered at the Ministry of Interior of the SR on December 12, 2011. The reason for its foundation was the effort to solve problems in the area of RDs in a complex and systemic way, which is proved by its involvement in the creation of NP RD in the SR. It houses 12 POs working in the field of RD in Slovakia. The objective of the Alliance RD is to keep improving the health and social life conditions of rare disease patients and their families, to improve the quality of rare disease patients’ lives, and to support their social integration. In close cooperation with EURORDIS - Rare Disease Europe − it took part in EUROPLAN II (2012 - 2015), a project organized by the National conference for the support of the creation of National plan of rare disease patient health care development in Slovakia.

scholarly journals Is it Possible to Implement a Rare Disease Case-Finding Tool in Primary Care? A UK-Based Pilot Study

2021 ◽  
Author(s):  
Orlando Buendia ◽  
Sneha Shankar ◽  
Hadley Mahon ◽  
Connor Toal ◽  
Lara Menzies ◽  
...  
Keyword(s):  
Primary Care ◽  
Rare Disease ◽  
Behçet’S Disease ◽  
Rare Diseases ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Case Finding ◽  
Snomed Ct ◽  
Behcet's Disease ◽  
Disease Case

Abstract Introduction:This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK National Health Service (NHS) population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness. The 2021 UK Rare Diseases Framework highlights a global need for faster diagnosis to improve clinical outcomes as a key priority.Methods & Results:A UK primary care locality with 68,705 patients was examined. MendelScan encodes diagnostic/screening criteria for multiple rare diseases, mapping clinical terms to appropriate SNOMED CT codes (UK primary care standardised clinical terminology) to create digital algorithms. These algorithms were applied to a pseudo-anonymised structured data extract of the electronic health records (EHR) in this locality to "flag" at-risk patients who may require further evaluation. All flagged patients then underwent internal clinical review (a doctor reviewing each EHR flagged by the algorithm, removing all cases with a clear diagnosis that explains the clinical features that led to the patient being flagged); for those that passed this review, a report was returned to their GP. 55 of 76 disease criteria flagged at least one patient. 227 (0.33%) of the total 68,705 of EHR were flagged; 18 EHR were already diagnosed with the disease (The highlighted EHR has a diagnostic code for the same RD it was screened for. e.g Behcet’s disease algorithm identifying an EHR with a SNOMED CT code Behcet's disease). 75/227 (33%) EHR passed our internal review. Thirty-six reports were returned to the GP. Feedback was available for 28/36 of the reports sent. GP categorised nine reports as "Reasonable possible diagnosis" (advance for investigation), six reports as "diagnosis has already been excluded", ten reports as "patient has a clear alternative aetiology", and three reports as "Other" (patient left study locality, unable to re identify accurately). All the 9 cases considered as "reasonable possible diagnosis" had a further actionable evaluation.Conclusions:This pilot demonstrates that implementing such a tool is feasible at a population level. The case-finding tool identified credible cases which were subsequently referred for further investigation. Future work includes performance-based validation studies of diagnostic algorithms and the scalability of the tool.

scholarly journals Is It Possible to Implement a Rare Disease Case-finding Tool in Primary Care? A UK-based Pilot Study

2021 ◽  
Author(s):  
Orlando Buendia ◽  
Sneha Shankar ◽  
Hadley Mahon ◽  
Connor Toal ◽  
Lara Menzies ◽  
...  
Keyword(s):  
Primary Care ◽  
Rare Disease ◽  
Rare Diseases ◽  
Population Level ◽  
Disease Diagnosis ◽  
Case Finding ◽  
Snomed Ct ◽  
Efficient Manner ◽  
Screening Criteria ◽  
Disease Case

Abstract Introduction:This study implemented MendelScan, a primary care rare disease case-finding tool, into a UK NHS population. Rare disease diagnosis is challenging due to disease complexity and low physician awareness. The 2021 UK Rare Diseases Framework highlights a global need for faster diagnosis to improve clinical outcomes as a key priority.Methods & Results:A UK primary care locality with 68,705 patients was examined. MendelScan encodes diagnostic/screening criteria for multiple rare diseases, mapping clinical terms to appropriate SNOMED CT codes (UK primary care standardised clinical terminology) to create digital algorithms. These algorithms were applied to a pseudo-anonymised structured data extract of the electronic health records (EHR) in this locality to "flag" at-risk patients who may require further evaluation. All flagged patients then underwent internal clinical review; for those that passed this review, a report was returned to their GP. 55 of 76 disease criteria flagged at least one patient. 227 (0.33% of the total population) patients were flagged; 18 EHR were already diagnosed with the disease. 75/227 (33%) passed our internal review. Thirty-six reports were returned to the GP. Feedback was available for 28/36 of the reports sent. GP categorised nine reports as "Reasonable possible diagnosis" (advance for investigation), six reports as "diagnosis has already been excluded", ten reports as "patient has a clear alternative aetiology", and three reports as "Other" (patient left study locality, unable to reidentify accurately). All the 9 cases considered as "reasonable possible diagnosis" had a further actionable evaluation.Conclusions:This pilot demonstrates that implementing such a tool is feasible at a population level in an ethical, technical and efficient manner. The case-finding tool identified credible cases which were subsequently referred for further investigation. Future work includes performance-based validation studies of diagnostic algorithms and the scalability of the tool.

scholarly journals Current Legislation and Recommended Procedures / Tvorba národného plánu starostlivosti o pacientov so zriedkavými chorobami, súčasná legislatíva a odporúčané postupy

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 6-9
Author(s):  
F. Cisarik
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Reference Network ◽  
National Plan ◽  
Ministry Of Health ◽  
European Reference Network ◽  
The Creation ◽  
Centres Of Expertise

The author elaborates on the requirements for the creation of a national plan for rare disease on the basis of three fundamental parts of the problem: Centres of expertise - European reference network - European registers of rare diseases. He presents some positive examples of the latest developments and points out the difficulties of creation of registers of rare diseases in Europe, as well as in the SR. He emphasizes the role and engagement of the Ministry of Health in the implementation of partial tasks in the process of creation of the national plan and stresses the need to concentrate on a small number of fundamental tasks.

Sign in / Sign up

Export Citation Format

Share Document