Table 1 Surveys of current and future healthcare workforce: knowledge on rare diseases

Walkowiak D, 2020; medical doctors (N 165), PL

Correct answer rates from 15.8% to 53.9%

Insufficient and very poor 94.6%

Rather not and definitely not 93.4%

In practice 75,2%, in family 11,5%

Mandatory courses at university 46.1%, elective courses at university 13.8%, literature 38.9%, conferences 21.6%, Internet 31.7%

Yes 83%/ 76,3%

RD constitute a serious public health issue: 83,1%

Ramalle-Gómara 2020*, GP N 132/ specialists N 37, ES

Likert scale 1 to 5: GP 1.72/ specialists 2.29

Likert scale 1 to 5: qualified to coordinate care GP 1.82/ specialists 2.4

Achieve diagnosis: GP 67,4/% specialists 62,2%; lack of CPG: GP 59,1%/ specialists 70,3%; information about where to refer: GP 66,7%/ specialists 62,2%; lack of access to diagnostic tests: GP 33,3%/ specialists 32,4%

University courses 27%, specialty training: GP 18.9%/ specialists 51.4%; CME courses: GP 40.9%/ specialists 45.9%. Medical training on RD is adequate, Likert scale 1 to 5: GP 1,72/

Likert scale 1 to 5: know patient organizations GP 1.58/ specialists 2.26. specialists 2.29

Likert scale 1 to 5: GP 1.53/ specialists 2.47

Yes: GP 55,6%/ specialists 62,2%. Likert scale 1 to 5: GP 1.58/ specialists 2.26

Vandeborne 2019, physician, GP N 114/ PED N 95/ specialists 75, BE

Poor and insufficient: GP 86%/ PED 45%/ specialists 16%

At least once: GP 52%. Multiple times: PED 72%/ specialists 94–100%

Usefulness of academic training to diagnose RD; not useful or insufficiently useful GP 80%/ PED 41%/ specialists 7–17%

Yes: GP 27%/ PED 85%/ specialists 75–89% (Orphanet)

Yes GP 84%/ PED 95%/ specialists 95%.; expressed need to include RD courses into university studies: GP 29%/ PED 44%, specialists 39–44%

Miteva 2011, physicians N 1002, BG

Correct answer rates from 2,3% to 19,8%

During the last year: 4,2%

Li 2021, physicians N 224, CN; N.B. response rate only 12,4%

Insufficient and poor 94,7%

Overall 53,6%, more than 3 times 19,9%

Education and training for RD sufficient 27,1%

87,8%

Support RD legislation 96,8%

Zurynski 2017, pediatricians 242, AU

Not 28%

Overall 93%, during the last 6 months 74%

Overall 98%; diagnostic delays 65%, lack of available treatments 40%, clinical guidelines 36%, uncertainty where to refer for peer support 35%

University courses 40%, specialty training 50%; consultation with colleagues 92%; Internet 91%; textbooks 49%, mobile phone or tablet applications 30%

Yes 62%

Yes 64%

Baqué 2019, rare skin diseases GP N 96, FR

Overall: 95%. Achieve diagnosis 88.5%, provide care coordination 76%; lack of knowledge 95%, insufficient time to search for information 72.6%

Know CoE 35.8%

Mijiritsky 2021, 309 dentists, IL

Correct answer rates 10% to 57.1%

Yes 70,1–95,2%

Medical and specialty training 39.4—77.3%, literature 50.2–69.7%, colleagues 47.6–75.8%

Kuhne 2020, odontology specialists N 267, DE

Correct answer rates 7.4% to 85.7%, significant differences among university/non-university educated dentists

No or little 50–77,7%

Yes 69–85,7%

No education at university or specialty training 21.4%

Do not know 21.6%, do not need info 10.1%

Yes 98,9%

Mancuso 2020, neurologists with special interest in RD N 104, IT; N.B. only 4% response rate

Yes 82%; aware of coordinated care in the Region 80%

Yes 73%

Rare neurological diseases are an important disease group: 96%; national health system insufficiently supports rare neurological diseases costs: 25,7%

Krajjnovic 2013, pharmacists N 139, RS

Correct answer rates 33% to 48,2% (2 questions)

Yes 51,8%

Support RD legislation 91,4%; lack of accessibility to Orphan drugs as a problem 64%

Walkowiak 2019, nursing students N 113, nurses 142, PL

Correct answer rates for nursing students 3.5% to 59.3%/ nurses 8.4% to 67.1%

Insufficient and very poor: nursing students 94.7%/ nurses 97.4%

Rather not and not: nursing students 84%/ nurses 77.4%

Mandatory courses at university 10.6%/17.4%, elective courses at university 8%/6.5%, literature 13.3%/21.9%, conferences 6.2%/14.8%, Internet 54.9%/79.4%, I do not search 23.9%/1.3%

Yes (Orphanet) nursing students 0,9%/ nurses 18,1%

Yes nursing students 83.2%/ nurses 91%; expressed need for mandatory educational courses: nurses 85% students 75%

RD constitute a serious public health issue: nursing students 85%/ nurses 92,9%

Ramalle-Gómara 2015, students of various specialties (nursing, medical, non-health) N 234, ES

Correct answer rates from 7.5 to 78.3

Although 72.6% considered that the majority of the budget should be used to treat common diseases, the total mean score for questions about willingness to assign resources to RD ranged from 3.3 to 4.6 on a Likert scale from 1 to 5**

Jonas 2017, students N 270, PL

Correct answer rates 14% to 73.7%

Domaradzki 2019, students N 346, PL

Correct answer rates 9.5% to 90.5%

Insufficient and very poor 95.4%

No 92.2%

Mandatory courses at university 51.7%, elective courses at university 22%, literature 10.7%, conferences 10.1%, Internet 59.8%, I do not search 11.8%

Yes (Orphanet) 19,4%

Yes 75.1%, but expressed need for mandatory university courses only 54,3%

RD constitute a serious public health problem: 78%, the need for RD legislation: 64,6–74,4%

Domaradzki 2021, students (nursing/ physiotherapy/ medical) N 113/ 173/ 368. N.B. data partially overlaps with Domaradzki 2019

Correct answer rates 3,5% to 89,6%

Insufficient and very poor: 94,7%/ 94,8%/ 95,1%

Rather or definitely not: 84%/ 83,8%/ 91,9%

Mandatory courses at university 10,6%/ 32,4%/ 51,1%, elective courses at university 8%/ 11,6%/ 22,3%, literature 13.3%/ 9,3%/ 19,6%, conferences 6.2%/ 5,8%/ 9,8%, Internet 54.9%/ 53,2%/ 58,7%, I do not search 23.9%/ 17,3%/ 11,4

Yes: 22,1%/ 54,7%/ 39,7%

Yes 83,2%/ 85%/ 73,9% Expressed need for mandatory university course: 76,1%/ 87,9%/ 45,6%

RD constitute a serious public health issue: 85%/ 89%/ 77,2%

Medic 2015, students N 592, Serbia

Correct answer rates 8.2 to 83.05

Likert scale 1 to 10***: 3 to 4

Mandatory courses at university 63.14%, elective courses at university 11.4%, Internet 39.4%

Quality of RD care (Likert scale 1 to 10****): 2,2 to 2,4; importance of RD in society 5,9–5,9