Table 1.
Main characteristics of included studies
| Study ID | Journal | SD | Objective or major approach | No of patients or individuals | Aimed health care professionals |
|---|---|---|---|---|---|
| Acevedo Gragera, 2006* |
SEMERGEN |
CS |
To report ten years of follow-up in PC of two patients diagnosed with Werner Syndrome and to describe the most recent theories of its aetiology |
2 |
N / A |
| Amaral, 2016* |
Rev Bras Med Fam Comunidade |
CR |
To report a rare case of McArdle Disease |
1 |
N / A |
| Anon, 2006 |
Atención Primaria |
- |
- |
- |
- |
| Avellaneda 2007‡ |
Anales del Sist Sanit de Navarra |
R |
To highlight that rare diseases appear like a universe that requires a new socio-sanitary approach from the health system |
N / A |
N / A |
| Avellaneda Fernandez, 2006* |
Atención Primaria |
NM |
To define the relevance of the problem of the need for PC training in rare diseases and to identify the need for RD training in PC |
22 HP |
Phy, nurses, and SHC |
| Avellaneda Fernandez, 2012* |
SEMERGEN |
CSS |
To identify the elements that lead to the perception that GPs have as regard RD as a whole, and to analyse the characteristics of these patients with RD |
260 Phy |
Phy |
| Beck, 2020* |
Transl Sci Rare Dis |
R |
To provide PCP with information about the medical and psychosocial issues commonly experienced by patients with inborn errors of metabolism and their families to allow for ongoing support outside of the genetics clinics |
N / A |
HP in general |
| Bedin, 2021* |
Rev de Aten Prim a Saúde |
NM |
To reflect on rare diseases approach in the context of PC |
1 Pt |
Medical students |
| Benson, 2022* |
European Journal of Neurology |
R |
To describe the holistic patient experience from pre-diagnosis through to long-term treatment |
15 Pt |
N / A |
| Boffin, 2018* |
Intl J of Environ Res and Public Heal |
CSS |
To examine care characteristics of care diseases patients and analyse the importance of RD in GP by its caseload |
111 SGP + 121 Pt |
Phy |
| Brasil, 2014§ |
Ministério da Saúde Brasileiro |
GM |
To establish guidelines for the care of patient with RD in the primary health care system |
N / A |
N/A |
| Buendia, 2022* |
Orphanet Journal of Rare Diseases |
CSS |
To assess the feasibility of applying MendelScan with 76 RD algorithms, in a PC environment in the lower lea valley |
68 705 Pt |
N/A |
| Bueno, 2015* |
Soc Iberoameric de Inform Científica |
CSS |
To assess the degree of knowledge on rare diseases held by PCP |
128 Phy |
Phy |
| Buenos Aires, 2013§ |
La APS renovada en la Provincia de Buenos Aires |
GM |
It establishes the creation of the Center Provincial Reference, Monitoring and Dissemination of RD and establishes its bases concepts in this document, constituting its pillars of work |
N / A |
N / A |
| Byrne, 2020* |
Irish Journal of Medical Science |
CSS |
To complete a pilot survey to estimate the general practice clinical workload attributable to selected RD and assess the use of relevant information sources |
31 Phy +171 Pt |
Phy |
| CAN Org for Rare Diseases, 2015§ |
N/A |
GM |
To highlight strategies for care of RD |
N / A |
N / A |
| Carroll, 2021* |
Canadian Family Physician |
CSS |
To explore PCP preferred roles and confidence in caring for infants receiving a positive cystic fibrosis newborn screening result, as well as management of cystic fibrosis family planning issues |
321 HP |
PCP and specialists |
| Castro-Rodríguez, 2021* |
Atención Primaria |
CSS |
To know the incidence and prevalence of amyotrophic lateral sclerosis in a PC management area, the clinical characteristics and the use of health resources |
81 Pt |
N / A |
| Crit Care Services Ontario, 2017§ |
N/A |
GM |
To report data RD from the development of a provincial framework to maximize value from the system of care for patients with R in Ontario |
N / A |
N / A |
| Derayeh, 2018* |
Intract and Rare Diseases Research |
R |
To systematically review the literature on the RD information system to identify architecture of this system from a data perspective |
N / A |
N / A |
| Domínguez Enríquez, 2013* |
Revista Médica VozAndes |
CR |
To present a care report of a RD and the delivery of care in the primary care sector |
1 Pt |
N / A |
| Druschke, 2021* |
Orphanet Journal of Rare Diseases |
CSS |
To understand the knowledge about a centre for RD and how it works, in case of cooperation, satisfaction with the services provided by centres, and expectations and needs they have with regard to the centres |
263 Phy |
Phy |
| Dudding-Byth, 2015* |
Australian Family Physician |
R |
To outline the challenges faced by the RD community, and the role of the PCP to advocate for answers as their patients transition through the health care system |
N / A |
GPs |
| Ehsani-Moghaddam, 2018* |
PLoS ONE |
CSS |
To evaluate the NBC algorithm as a simple method of identifying a “group” of patients with the highest likelihood of having MPS II as a rare disease with relatively common features using a “real” data set |
N / A |
N / A |
| Elliott, 2015* |
Australian Family Physician |
R |
To review the impact of rare diseases on families and health services, and the role of the GP and policy response in Australia |
N / A |
GPs |
| Esteban-Bueno, 2022* |
Atencion Primaria |
PM |
The follow-up of patients with Wolfram syndrome can be used to design a protocol to support these patients, with the participation of researchers and health care professionals specialized in the disease, the patients themselves and their familial environment |
N / A |
HP in general |
| Esteban-Bueno, 2016* |
Rev Clín de Med de Fam |
CSM |
The objective of this case study was to analyse the importance of the role of the PCD in the presumptive diagnosis, referral, monitoring and support of patients with ALS and their families |
2 Pt |
GPs |
| Evans, 2016‡ |
British Journal of General Practice |
NM |
To identify important points to answer, how recognize the rare disease in primary care |
N / A |
GPs |
| Evans, 2022* |
European Journal of Human Genetics |
IRS |
To evaluated the implemented MendelScan, a primary care rare disease case finding tool, into a UK NHS population |
68 705 Pt |
N / A |
| Fabrizzio, 2018* |
Rev da Escola de Enfermagem da USP |
CR |
To describe the care management of an individual patient affected by Devic’s Disease in the PHC context |
1 Pt |
N / A |
| Falah, 2022* |
BMC Primary Care |
CSS |
To evaluate quality, satisfaction, and barriers in genetics education in residency training programs |
59 Phy |
Phy |
| Francisco, 2018‖ |
Orphanet Journal of Rare Diseases |
NM |
To optimize the available resources and improve care quality, integrating patient care levels and circuits that guarantee access to clinical expertise unit networks (XUEC) |
N / A |
GPs |
| Gammie, 2015* |
PLoS One |
R |
To review existing regulations and policies utilised by countries to enable patient access to orphan drugs |
35 countries |
N / A |
| García-Ribes, 2006‡ |
Atencion Primaria |
NM |
To present the sem FYC Working Group on Genetic and Rare Diseases and its objectives |
N / A |
GPs |
| García-Ribes, 2013* |
Revista Clíc de Med de Familia |
NM |
To present an online tool that has been developed to manage rare diseases from the primary health care centre to facilitate the family doctor’s task of caring for these patients: the DICE-APER protocol |
N / A |
HP |
| García-Ribes, 2013‡ |
Atencion Primaria |
NM |
To present initiatives on the role of primary care in rare diseases |
N / A |
N / A |
| Gimenez-Lozano, 2022* |
Intl J of Environ Res and Public Health |
CSS |
To understand the needs of patients and families seen in primary care with a confirmed or suspected diagnosis of rare disease and better grasp the impact the disease has on their lives |
163 Pt |
N / A |
| González-Lamuño, 2009* |
Atención Primaria |
R |
To present the situations when a primary care physician should suspect a rare metabolic disease |
N / A |
N / A |
| Gupta, 2011¶ |
Chest |
NM |
To explore several strategies that may improve researchers’ ability to identify and recruit research participants with rare lung diseases and to provide an overview of strategies based on available evidence, previously used approaches, and reasoning |
N / A |
N / A |
| Hariyan, 2020* |
PLoS ONE |
CSS |
To evaluate the knowledge about primary immunodeficiencies among physicians before and after the implementation of an educational program |
149 Phy |
Phy |
| Hayward, 2017‡ |
British Journal of General Practice |
CR |
To analyse how will genomics impact on primary care and what is needed for primary care to be genomics-ready |
N / A |
N / A |
| Iskrov, 2019* |
Annali dell'Istituto Superiore di Sanita |
NM |
To analyse the five identified axes of public health challenges in the 2017 State of Health in the EU report to start a broad debate on the issue of sustainability of health care systems for rare diseases |
N / A |
N / A |
| Jo, 2019* |
BMJ Open |
CSS |
To explore characteristics of visits for patients with rare diseases seen by primary care physicians (PCPs) |
1508 Phy |
PCP |
| Kim, 2015* |
BMC Gastroenterology |
CS |
To investigate if having access to primary care or insurance prior to diagnosis is associated with better outcomes for patients in an urban, public hospital with mostly socioeconomically disadvantaged Hispanic patients |
150 Pt |
N / A |
| Knight, 2006* |
Medical Journal of Australia |
HM |
To develop a comprehensive approach to the management of chronic disease in primary care |
N / A |
CMC |
| Koch, 2012‖ |
Molecular Syndromology |
GM |
To introduce the DORA project, a joint effort between the Children’s Hospital (University of Sao Paulo Medical School) and the Sao Paulo Secretary of State for Health, in order to organize early diagnosis and integrated care of congenital malformations and rare diseases in the State of Sao Paulo |
N / A |
Phy |
| Loio, 2017* |
Rev Bras Med Fam Comunidade |
CR |
To demonstrate the importance of early recognition of rare disease characteristics in family and community health for a good prognosis |
1 Pt +1 Phy |
GPs |
| Lopes, 2018* |
Clinics (Sao Paulo) |
GM |
To present a survey of vulnerabilities and to suggest approaches for the treatment of rare diseases according to the perceptions of a group of affected individuals, patient association representatives and health care professionals |
27 Pt |
HP in general |
| Luz, 2015* |
Acta Paulista Enfermagem |
NM |
To characterize the diagnostic and therapeutic journey of families of people with rare diseases within the network of Brazilian public services |
N / A |
Nurse |
| Maggi, 2022* |
Family Practice |
CS |
To investigate the clinical correlates of SMA among primary care patients. |
800 Phy |
GPs |
| Mainous, 2018* |
JABFM |
CSS |
To evaluate the effectiveness of a clinical decision support (CDS) – based intervention system for transfusional iron overload in adults with SCD to improve management in primary care |
71 Pt |
GPs |
| Martínez-Sabater, 2012* |
SEMERGEN |
CR |
To report how rare diseases, by their epidemiological characteristics, and sometimes by the non-specific symptoms, are difficult to diagnose routinely at the Primary Care Level |
N / A |
Nurse |
| McClain, 2014* |
Clinical Pediatrics |
GM |
To assess primary care paediatric providers’ comfort with co-managing patients with rare conditions |
108 Phy |
Paediatricians |
| Mehta, 2017* |
Mol Genet Metab |
GM |
To explore the patient journey to diagnosis of Gaucher Disease from the perspectives of Gaucher expert physicians and patients |
1595 Pt |
Genetic therapies |
| Melo, 2015* |
Journal of Community Genetics |
GM |
To analyse genetic competencies of primary health care professionals in Brazil |
21 Phy 21 + Nurses 16 + 8 Dentists |
CHPEG |
| Melo, 2017* |
Interface |
GM |
To provide a theoretical reference to support the outline of programs of education and training in Health, contributing to including Genetics in the SUS |
N / A |
Geneticists |
| Menon, 2015* |
Healthcare Policy |
R |
To compare current mechanisms across provinces and territories, and explore their impact on access |
N / A |
N / A |
| Morales-Piga, 2013* |
Atencion Primaria |
NM |
To evaluate the population of patients with FOP in Spain |
24 Pt |
N / A |
| Murphy, 2021* |
Innovations in Pharmacy |
CSM |
To show the need for additional treatment guidelines for pain in patients with Budd Chiari Syndrome |
1 Pt |
N / A |
| Ministério da Saúde Brasileiro, 2015** |
Brazilian Government |
GM |
To establish the National Policy for Comprehensive Care for People with Rare Diseases, approves the Guidelines for Comprehensive Care for People with Rare Diseases within the scope of the Health System (SUS) in Brazil and institutes financial cost incentives |
N / A |
N / A |
| Ortega Calvo, 2004‡ |
Cuadernos de Gestión para el Profesional de Atención Primaria |
NM |
To answer the question: “Are rare diseases a scientific paradigm in primary care?” |
N / A |
N / A |
| Ortega Calvo, 2007* |
Anales de Medicina Interna |
CSS |
To answer the following question: How can we classify the findings in rare diseases from primary care in such a way that the information is as profitable as possible for the scientific community? |
N / A |
N / A |
| Ortega Calvo, 2012* |
Atencion Primaria |
NM |
To present a series of diagnostic conceptual maps that help GPs and paediatricians make decisions about patients hypothetically affected by rare diseases |
N / A |
GPs and paediatrician |
| Pearce, 2018‡ |
Rheumatology |
NM |
Development of ‘effective IT support’ for rare conditions presenting with common symptoms, specifically advocating use of computer prompts to alert primary care physicians to consider a rare disease diagnosis |
N / A |
GPs |
| Pericleous, 2018‖ |
United European Gastroenterol J |
CSS |
To create a real-world registry linking primary and secondary care for PBC |
375 Pt |
Specialists |
| Ramalle-Gómara, 2020* |
Orphanet Journal of Rare Diseases |
CSS |
To report the training needs and the perceived shortcomings of Spanish physicians of the public health system in the diagnosis, treatment and monitoring of patients with rare diseases |
132 GPs and 37 specialists |
GPs and specialists |
| Reimann, 2007* |
BGG |
CSS |
To obtain insight into preferred medical care concepts and preferences in the way that care is provided |
German patient-organisations |
GPs and specialists |
| Rodríguez de Mingo, 2014* |
SEMERGEN |
CSM |
To report the case of a 40-y-old Caucasian woman who came to the clinic with these symptoms and was diagnosed with Takayasu's arteritis |
1 CR |
PHP |
| Santos, 2020* |
Rev Bras Med Fam Comunidade |
NM |
To collaborate with the development of methods for the recognition of individuals with or at risk of developing genetic diseases in the primary health care |
1160 Pt |
PHP |
| Senior, 2008¶ |
The Lancet |
NM |
General comment on rare diseases and primary health care |
N / A |
N / A |
| Siderius, 2012‖ |
Arch Dis Child |
CSS |
To establishes opportunities for PHC to detect children with rare and chronic conditions and provide PHC with tools for personalized prevention for children |
931 newborns |
PHP |
| Silva, 2020* |
BGG |
CSS |
To understand the challenges faced by family caregivers of children and adolescents with Epidermolysis Bullosa in the search for assistance in the Health Care network |
11 individuals |
N / A |
| Stroes, 2017* |
Atherosclerosis Supplements |
NM |
To define a diagnostic algorithm for FCS |
N / A |
HCP in general |
| Terry, 2010‡ |
JAAPA |
NM |
It discusses the intersection between PC and genetic diseases |
N / A |
PHC |
| Timmer, 2021* |
Haemophilia |
CSS |
To explore experiences of stakeholders with primary care physiotherapy for patients with haemophilia
and develop recommendations to optimize physiotherapy care coordination |
Physioterapists |
Physiotherapists |
| Vandeborne, 2019* |
Orphanet Journal of Rare Diseases |
CSS |
To investigate how information and education could be tailored to the needs and preferences of physicians in Belgium to increase their rare disease awareness and support them in diagnosing patients with a RD |
Phy |
Phy |
| Vieira, 2009* |
RAMB |
CSS |
To analyse the qualitative coverage of therapeutic policies in the Health System in Brazil, at the federal level, for diseases mentioned in lawsuits |
27 Pt |
HPs |
| Warnick, 2022* |
Genetics in Medicine |
CSS |
To investigate the satisfaction and improvement demand of quality genetics education in residency training programs and thus provide a basis for its development and advancement |
59 Phy |
Phy |
| Wray, 2021* |
Int J Pediatr Otorhinolaryngol |
CSS |
To identify the information and support needs of HPs in primary and secondary care looking after a child with LSCTS, the views of those providing education to these children, and elicit parents’ perceptions about community-based services, to improve overall care for children and families |
90 HP + 18 professors |
N / A |
| Yeung, 2016* |
Haemophilia |
R |
To summarize the evidence from reviews for the effects of integrated multidisciplinary care for chronic conditions in adults and to provide an example of using this evidence to make recommendations for haemophilia care |
N / A |
N / A |
| Zack, 2006* | Community Genetics | CSS | To determine whether a knowledge gap is recognised, how GPs currently at- tempt to overcome it, and what features of an information resource are preferred by GPs | 37 Pt | N / A |
CME – consultant medical educator, CS – case series, CR – case report, CSS – cross-sectional study, NM – narrative model, HM – historical model, GM – government material, PHP -primary health care professionals, ALS – amyotrophic lateral sclerosis, UK-NHS – United Kingdom, National Health System, FYC – “proper name”, SMA – spinal muscular atrophy, PBC – primary biliary cholangitis, HPs – health care professionals, Phy – physicians, PC – primary care, PCD – primary care doctor, PCP – primary care physicians, PCW – primary care worker, PHC – primary health care, HCCC – haemophilia comprehensive care centre, BGG – Bundesgesundheitsblatt-Gesundheitsforschung-Gesundheitsschutz, SD – study design, N / A – no answer, R – review, RD – rare disease, RAMB - Revista da Associação Médica Brasileira, JAAPA - Journal of the American Academy of Pa, Pt – patient, SHW – social health workers, LSCTS - long segment congenital tracheal stenosis
*Journal Article.
‡Editorial.
§Government or organization publication.
||Conference abstract.
¶Comment.
**Law.