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

Abstract

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.

Implementation factors of non-communicable disease policies and programmes for children and youth in low-income and middle-income countries: a systematic review

“… 10 12 16 18–20 39 59 63 84 Uruguay’s development of comprehensive and universal care policies for congenital and rare NCDs highlighted the critical need to improve domestic health personnel training in the identification of congenital anomalies. 20 Expert-knowledge gaps exacerbated frailties along the care continuum, as treatment-focused initiatives were constrained by limited capacity for detection and diagnosis of paediatric NCDs. Insufficient attention to knowledge retention, evidenced by lack of refresher training and feedback opportunities, created an additional barrier.…”

Rare Diseases in Uruguay: Focus on Infants with Abnormal Newborn Screening

“…Confirmation for this pathology is made by examining the organic acids in the urine via gas chromatography with a mass detector [15]. Cut-off for C0, C6, C8 and C10 was 11.7, 0.39, 0.5 and 0.72 umol/l respectively and 3.02, 0.02, 0.3 to the relation C8/C10, C8/C2, C10:1 respectively There are also two Pilot Programmes related to the neonatal screening programme in Uruguay for conditions that are detected by blood drop but whose pathologies are not part of the mandatory detection [10]; these were not considered in this study.…”

“…In cases where CF, PKU or MCADD are detected, patients both in the public and private sectors are referred to the Department of Medical and Surgical Specialties (DEMEQUI), since 2014 the name is National Reference Center Congenital Defects and Rare Diseases (CRENADECER) of BPS, located in Montevideo where treatment, genetic counselling and disease follow-up are centralised. [10] The present study responds to an international need for more information regarding the burden of RDs and intends to demonstrate that secondary prevention actions are possible for some of these diseases.…”

La información genética en salud en América Latina: Algunos aspectos éticos y jurídicos

“…En el 2013 se ha establecido un plan integral de defectos congénitos y enfermedades raras (pidcer) 114 que depende del Ministerio de Salud 115 . La Ley 18.651 116 de Estrategias para Prevención de la Deficiencia y de la Discapacidad establece la necesidad de realizar asesoramiento genético e investigación de las enfermedades metabólicas y otras para prevenir las enfermedades genéticas y las malformaciones congénitas, y el programa de screening durante la gestación pre-concepcional 117 establece el asesoramiento genético como una prestación de acceso universal en los servicios de salud sexual y reproductiva 118 .…”