Why would we need a pre-diagnosis tool in rare diseases?

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1 out of 20 people

have a rare disease

(source: French Rare Disease Foundation, May 2016)

7 000 rare diseases

identified so far.

(source: French PNMR 3, 2018)

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3 years average

for a diagnosis to be made

(source: French PNMR 3, 2018)

Diagnostic odyssey

Definition

Diagnostic delay is when abnormally long delays occur, at one or more stages of the diagnostic process. It can also qualify a period during which no diagnosis of certainty can be made, for lack of sufficient clinical signs characteristics, resulting in support that is not the most suitable.

Some concrete examples

Pathology

Time to diagnose

for 50% of patients

Time to diagnose

for 75% of patients

Cystic fibrosis

1.5 months

15 months

Tuberous sclerosis

4 months

3 years

Duchenne muscular dystrophy

12 months

3 years

Prader Willi syndrome

18 months

6.1 years

Marfan syndrome

18 months

11.1 years

X Fragile syndrome

2.8 years

5.3 years

Ehlers Danlos syndrome

14 years

28 years

Source White Paper UNIR - Innovating together to reduce diagnostic error in rare diseases, 2019