Abstract
Genetic diseases and congenital anomalies are the second most common cause of infant mortality in Brazil. In 2009, the Ministry of Health established the National Policy for Integral Attention in Clinical Genetics in the Brazilian Unified National Health System (UNHS). This policy is not yet regulated, and there is a fear that, in the name of the comprehensiveness of health care, genetic testing might be carried out without due care and criteria, increasing costs to the UNHS. Currently, only a small population has access to genetic testing, through teaching hospitals or private health care. The biggest challenge in Brazil, in this area, is to be able to set the right standards and assessment processes about clinical utility, testing priorities, dispersal of resources, and distribution of skilled professionals. Expanding access to users of the Brazilian UNHS will mean mining the technical, social, and ethical aspects about medical genetics services.
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