GENETIC AND MOLECULAR TESTING
for RDs in Latin America

In addition to those who are undiagnosed or receive a wrong diagnosis, there are an estimated 38.9 to 51.7 million people in Latin America (LA) who have a rare disease (RD). Most rare diseases, often referred to as orphan and low prevalence diseases, are chronic and can be crippling, dangerous, and life-threatening, besides having a high rate of morbidity and mortality, and few therapeutic options available.

Around 7000 RDs have been identified, and they can happen at various phases of life. A genetic basis can be found in 80 percent of all RDs, which can include single or multiple gene diseases, chromosomal aberrations, and other genetic conditions.

Patients suffering from these illnesses can now receive a molecular diagnosis thanks to the understanding of this genetic etiology. Additionally, by population screening for the variant connected to the ailment, which is made possible by understanding the molecular etiology of a genetic disorder, early diagnosis and treatments to lower morbidity and mortality are made possible.

As a result, in June, the Americas Health Foundation (AHF) conducted a virtual meeting of six medical experts in rare diseases from the countries of Argentina, Brazil, Chile, Colombia, and Mexico to address the gaps and barriers to accessing genetic and other specialized molecular testing for diagnosis and research of rare diseases in Latin America (LA). The meeting resulted in a manuscript entitled “Charting the future for genetic and molecular testing access for RDs in Latin America”, which is under review for publication.