Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

Mariela Larrandaburu, Ursula Matte, Ana Noble, Zully Olivera, Maria Teresa V. Sanseverino, Luis Nacul, Lavinia Schuler-Faccini

Uruguay is a middle-income country and the smallest in South America. Its population is under 3.3 million. The demographic and epidemiological characteristics are similar to those of developed countries, with a high burden associated with congenital anomalies. Infant mortality rate (IMR) decreased from 37/1000 live births, in 1980, to 8.8/1000, in 2013. This is largely explained by medical and social policies. IMR related to congenital anomalies, however, remained unchanged for the last 30 years. Therefore, programmes for prevention of congenital disorders were developed, such as the National Newborn Screening Programme. Mandatory, universal, free infant screening was implemented two decades ago. The Ministry of Public Health created the Comprehensive Plan on Birth Defects and Rare Diseases (PIDCER), to develop a strategic public policy tool enabling comprehensive, universal, quality care during their entire lifetime. Recent national legislation created provisions for newborn and infant screening, including for congenital hypothyroidism, phenylketonuria, congenital adrenal hyperplasia, cystic fibrosis and medium-chain acyl-CoA dehydrogenase, via blood spot test, otoacoustic emissions, systematic physical examination and hip ultrasound. We discuss how this programme was implemented, the current situation of rare diseases, the institution managing disability in Uruguay and the development of new laws based on the MPH's PIDCER. It illustrates how Uruguay is developing public policies in the genomic era, based both on science and bioethics.