Table 2 Main variables associated with diagnosis delays, and their association with patient delays and health system delays.

From: Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey

Variables

Category

Patient delay

 

Health system delay

 

Diagnosis delay

 

OR (95% CI)

P

OR (95% CI)

P

OR (95% CI)

P

Sociodemographic characteristics

Age of the patient at perceived symptom onset

<2

1.92

***

1.17

NS

2.26

***

 

(1.5–2.4)

 

(0.9 – 1.5)

 

(1.8 – 2.8)

 

2–9

1.57

***

1.95

***

3.10

***

 

(1.2–2.0)

 

(1.5–2.5)

 

(2.4–3.9)

 

10–19

2.70

***

1.71

***

4.74

***

 

(2.1–3.5)

 

(1.3–2.2)

 

(3.7–6.2)

 

20–29

1.74

***

1.54

***

2.44

***

 

(1.4–2.2)

 

(1.2–2.0)

 

(1.9–3.1)

 

30–49

1.33

***

1.36

***

1.70

***

 

(1.1–1.6)

 

(1.1–1.7)

 

(1.4–2.0)

 

50 and more

ref (-)

 

ref (-)

 

ref (-)

 

Gender of the patient

Male

ref (-)

 

ref (-)

 

ref (-)

 

Female

1.13

*

1.27

***

1.22

***

 

(1.0–1.3)

 

(1.1–1.5)

 

(1.1–1.4)

 

Country Group

Eastern, Central and Southern Europe

ref (-)

 

ref (-)

 

ref (-)

 

Western Europe

1.23

**

1.89

***

1.95

***

 

(1.0–1.5)

 

(1.5–2.3)

 

(1.6–2.3)

 

Northern Europe

1.07

NS

2.30

***

2.11

***

 

(0.9–1.3)

 

(1.9–2.8)

 

(1.7–2.5)

 

Characteristics of the diagnosis journey (healthcare system)

Number of healthcare professionals consulted

0–1

ref (-)

 

ref (-)

 

ref (-)

 

2–7

0.96

NS

2.03

***

1.86

***

 

(0.8–1.1)

 

(1.6–2.5)

 

(1.5–2.3)

 

8+

0.90

NS

6.15

***

5.06

***

 

(0.7–1.1)

 

(4.7–8.0)

 

(4.1–6.4)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Misdiagnosis

Yes

1.04

NS

2.72

***

2.42

***

 

(0.9–1.2)

 

(2.4–3.2)

 

(2.1–2.8)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Yes

0.91

**

1.64

***

1.55

***

Genetic tests

 

(0.8–1.1)

 

(1.4–1.9)

 

(1.3–1.8)

 

Don’t know/not relevant

0.76

**

0.78

*

0.57

***

 

(0.6–1.0)

 

(0.6–1.0)

 

(0.4–0.7)

 

Healthcare professionals reluctant or not sufficiently informed to prescribe genetic tests (declarative)

No

ref (-)

 

ref (-)

 

ref (-)

 

Yes

1.0

NS

1.65

***

1.54

***

 

(0.9–1.2)

 

(1.4–1.9)

 

(1.3–1.8)

 

Not relevant

0.93

NS

1.16

*

1.07

NS

(0.8–1.1)

 

(1–1.4)

 

(0.9–1.2)

 

No

1.09

NS

1.10

NS

1.17

***

The patient was referred to a Centre of Expertise

Yes

(0.97–1.22)

 

(1.0–1.2)

 

(1.0–1.3)

 

ref (-)

 

ref (-)

 

ref (-)

 

Characteristics of the diagnosis journey (family and support)

Family members already diagnosed

No

ref (-)

 

ref (-)

 

ref (-)

 

Yes

1.37

***

1.01

NS

1.37

***

 

(1.1–1.7)

 

(0.8–1.2)

 

(1.1–1.6)

 

Financial support

Needs met

ref (-)

 

ref (-)

 

ref (-)

 

Needs unmet

1.06

NS

1.12

NS

1.17

**

 

(0.9–1.2)

 

(1.0–1.3)

 

(1.0–1.3)

 

Needs met

ref (-)

 

ref (-)

 

ref (-)

 

Psychological support

Needs unmet

1.10

NS

1.20

**

1.33

***

 

(1.0–1.2)

 

(1.0–1.4)

 

(1.2–1.5)

 

Characteristics of the rare diseases and symptoms

Number of body parts

affected

1–7

ref (-)

 

ref (-)

 

ref (-)

 

8+

0.94

NS

1.26

**

1.10

NS

 

(0.8–1.1)

 

(1.0–1.5)

 

(0.9–1.3)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Genetic disease

Yes

0.89

NS

1.75

***

1.34

***

 

(0.8–1.0)

 

(1.5–2.0)

 

(1.1–1.6)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Gastroenterological

disease

Yes

0.64

***

0.73

*

0.52

***

 

(0.5–0.9)

 

(0.5–1.1)

 

(0.4–0.7)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Gynaecologic-obstetric

disease

Yes

0.94

NS

0.65

**

0.63

***

 

(0.7–1.3)

 

(0.5–0.9)

 

(0.5–0.8)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Renal disease

Yes

0.90

NS

0.52

***

0.54

***

 

(0.7–1.1)

 

(0.4–0.6)

 

(0.4–0.7)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Neurological disease

Yes

1.15

NS

0.90

NS

1.00

NS

Outbreaks (clinical signs or symptoms that come and go)

 

(1.02–1.3)

 

(0.8–1.0)

 

(0.9–1.1)

 

No

ref (-)

 

ref (-)

 

ref (-)

 

Yes

0.96

NS

1.18

**

1.16

**

 

(0.8–1.1)

 

(1.0–1.3)

 

(1.0–1.3)

 

Don’t know

1.09

NS

0.95

NS

1.08

NS

 

(0.8–1.4)

 

(0.7–1.2)

 

(0.8–1.4)

 

Sudden onset of symptoms requiring urgent care

No

ref (-)

 

ref (-)

 

ref (-)

 

Yes

0.72

***

0.79

***

0.88

***

 

(0.6–0.8)

 

(0.7–0.9)

 

(0.7–0.8)

 

Don’t know

0.86

NS

0.93

NS

0.91

NS

 

(0.64–1.1)

 

(0.7–1.2)

 

(0.7–1.2)

 

Constant cut1

 

0.39

***

43.63

***

50.2

***

 

(0.3–0.5)

 

(28.9–65.9)

 

(34.3–73.5)

 

Constant cut2

 

5.5

***

157.3

***

172.19

***

 

(3.9–7.7)

 

(102.8–240.5)

 

(116.4–254.8)

 

Observations

 

4617

 

4617

 

5220

 

R2

 

0.02

 

13.94

 

13.97

 
  1. All models are adjusted for ‘Not in contact with other patients because of accessibility issues’, ‘Odontological diseases’, ‘Hepatic diseases’ and ‘Respiratory diseases’. Constant Cut or “cut point” values are defined by the ratio of cases below the cut point to cases above the cut point.
  2. OR Odd Ratios, CI Confidence Interval, Ref (-) Reference group, RD rare disease, NS non-significant, R² Coefficient of determination.
  3. ***p < 0.01, **p < 0.05, *p < 0.1.
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