Table 1.

Programs available to patients with Rare Diseases in Chile

Name	Disease(s) or tests	Target Population	Coverage
Explicit Guarantees in Health GES (Law N° 19,966) [22]	• Hemophilia • Cystic Fibrosis	Individuals with suspected or confirmed diagnosis	Diagnostic 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 diagnosis	Specific high cost medications
Newborn screening Program [23]	• Phenylketonuria	All newborns	Screening, confirmation, follow up, dietary interventions
Expanded newborn screening pilot [24]	• Cystic fibrosis • Other inborn errors of metabolism	All newborns	Under evaluation