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

whole-exome sequencing (WES)) are typically sent to international clinical laboratories and paid out-of-pocket by families who can afford them, generating substantial inequalities in access. Finally, the reduced availability and extremely high prices of orphan drugs constitute another barrier for therapies, and patients are bringing their cases of lack of coverage from insurers to court, which has led to an increasing trend in the judicialization of healthcare services [ 30 ].

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