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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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    Area of Science:

    • Medical Genetics
    • Molecular Biology
    • Public Health

    Background:

    • Genetic testing identifies molecular and chromosomal alterations for disease insights.
    • Understanding genetic conditions is crucial for prevention, treatment, and counseling.
    • Cuba's national program has provided free genetic testing since 1982.

    Purpose of the Study:

    • To describe the role and accessibility of genetic testing in Cuba's national health program.
    • To highlight the applications of genetic testing in diagnosing and managing hereditary diseases.

    Main Methods:

    • Utilizes advanced laboratory techniques to analyze genotype.
    • Focuses on identifying protein alterations, metabolites, chromosomes, and nucleic acids.

    Main Results:

    • Genetic tests confirm diagnoses and identify potential congenital or pre-symptomatic conditions.
    • Carrier status for recessive diseases can be diagnosed.
    • The program ensures universal, free access to genetic testing for all Cubans.

    Conclusions:

    • Cuba's national program effectively integrates genetic testing into healthcare for diagnosis and prevention.
    • Genetic testing supports informed physician-patient decisions regarding hereditary diseases and birth defects.