Resumo

ABARCA BARRIGA, Hugo H et al. Risk factors in genetic diseases. Acta méd. Peru [online]. 2018, vol.35, n.1, pp.43-50. ISSN 1728-5917.

More than 10,000 genetic diseases have been described, which affect approximately 7% of the whole world population, leading to high morbidity and mortality rates, as well as to elevated healthcare costs. The diagnosis of these conditions is a tough challenge, because of their clinical variability and the low availability of molecular diagnostic tests. There is little research performed in Peru dealing with these diseases, and although a ‘Bill for Orphan or Rare Diseases’ (Law N° 29698) has been recently issued, no national healthcare strategies have been implemented for the diagnosis, management, and prevention of genetic diseases. This paper aims to describe the risk factors that are more frequently related to diseases or syndromes with a genetic origin

Palavras-chave : Genetics; Genetics; medical; Risk factors; Rare diseases.

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