HUMAN GENETICS AND ITS IMPORTANCE IN THE PREVENTION OF HEREDITARY DISEASES

Abstract

This article aimed to utilize human genetics as a tool in the prevention of hereditary diseases, highlighting the role of genes in the early identification of risks and the development of prevention strategies. To develop this, a narrative literature review was conducted, with a qualitative and descriptive approach based on scientific articles available in SCIELO, PubMed/Medline, and Google Scholar, between the years 2015 and 2024. The review was grouped according to thematic categories, including the fundamentals of genetics, types of hereditary diseases, and possible e means of preventing them. The findings demonstrated that genetic progress has enabled a much more precise detection of mutations observed in diseases. Furthermore, tools such as genetic testing, genetic counseling, and neonatal screening are particularly relevant for early intervention and better surveillance of individuals at risk. It was also observed that personalized medicine contributes to the adoption of more targeted and effective therapeutic approaches. Although there are challenges related to access and ethical considerations throughout the research, it is concluded that human genetics plays an essential role in the prevention of hereditary diseases, favoring early diagnosis and improving quality of life.