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Claudia Gonzaga-Jauregui (@cgonzagaj) starts off this morning describing rare disordes in Latin America. Variable definitions between countries. #GRD23
@cgonzagaj .@cgonzagaj #GRD23: Barriers for implementation of molecular diagnostics in Latin America:
- limited testing coverage by healthcare/insurance
- high cost/low availability
- lack of awareness from PCPs
- low testing demands
- few trained professionals
-> etc
- limited testing coverage by healthcare/insurance
- high cost/low availability
- lack of awareness from PCPs
- low testing demands
- few trained professionals
-> etc
.@cgonzagaj #GRD23: REMEXER project to start a rare disease registry in Mexico. Can start to understand the number of patients, the challenges/needs, and the diagnoses.
144 patients registered in the first year.
144 patients registered in the first year.
.@cgonzagaj #GRD23: Only ~27% of patients have had genetic testing and many of these patients had to pay out of pocket for this, which can be costly.
Via ReMexER, starting to do genomic sequencing. Of the first patients, 36% have a diagnosis in a known gene, 36% novel candidate.
Via ReMexER, starting to do genomic sequencing. Of the first patients, 36% have a diagnosis in a known gene, 36% novel candidate.
@cgonzagaj .@cgonzagaj #GRD23 walked through a few patient cases. Now mentioning an initiative for rare diseases in Latin American & the Caribbean (ERCAL) to bring together patients, researchers, clinicians, and regulators. Goals to promote/establish early diagnosis programs + registries.
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