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Table 1 Programs available to patients with Rare Diseases in Chile

From: Rare diseases in Chile: challenges and recommendations in universal health coverage context

NameDisease(s) or testsTarget PopulationCoverage
Explicit Guarantees in Health GES (Law N° 19,966) [22]• Hemophilia
• Cystic Fibrosis
Individuals with suspected or confirmed diagnosisDiagnostic confirmation (excludes molecular diagnosis and genetic counseling), follow up and therapies
Coverage for High Cost medications and devices (Law 20.850 “Ley Ricarte Soto”) [20]• Mucopolysaccharidoses types I, II, VI
• Tyrosinemia Type I
• Gaucher Disease
• Fabry Disease
• Hereditary Angioedema
• Pancreatic neuroendocrine tumors
• Generalized dystonia
• Multiple sclerosis
• Primary immunodeficiency
• Huntington disease
• Epidermolysis bullosa
• Amyotrophic lateral sclerosis
• Bilateral severe-to-profound sensorineural hearing loss
• Unresectable or metastatic gastrointestinal stromal tumors
Individuals with suspected or confirmed diagnosisSpecific high cost medications
Newborn screening Program [23]• PhenylketonuriaAll newbornsScreening, confirmation, follow up, dietary interventions
Expanded newborn screening pilot [24]• Cystic fibrosis
• Other inborn errors of metabolism
All newbornsUnder evaluation