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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.

SUBMITTER: Larrandaburu M

PROVIDER: S-EPMC4524831 | biostudies-other | 2015 Jul

REPOSITORIES: biostudies-other

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

Larrandaburu Mariela M Matte Ursula U Noble Ana A Olivera Zully Z Sanseverino Maria Teresa V MT Nacul Luis L Schuler-Faccini Lavinia L

Journal of community genetics 20150529 3

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 ...[more]

PMID: 26021874

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Project description:ImportanceIn 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown.ObjectiveTo assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates.Design, Setting, and ParticipantsObservational study with group-level analyses. A difference-in-differences analysis was conducted using the National Center for Health Statistics' period linked birth/infant death data set files for 2007-2013 for 26?546?503 US births through June 30, 2013, aggregated by month and state of birth.ExposuresState policies were classified as mandatory or nonmandatory (including voluntary policies and mandates that were not yet implemented). As of June 1, 2013, 8 states had implemented mandatory screening policies, 5 states had voluntary screening policies, and 9 states had adopted but not yet implemented mandates.Main Outcomes and MeasuresNumbers of early infant deaths (between 24 hours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital cardiac causes for each state-month birth cohort.ResultsBetween 2007 and 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/unspecified causes. Critical congenital heart disease death rates in states with mandatory screening policies were 8.0 (95% CI, 5.4-10.6) per 100?000 births (n?=?37) in 2007 and 6.4 (95% CI, 2.9-9.9) per 100?000 births (n?=?13) in 2013 (for births by the end of July); for other/unspecified cardiac causes, death rates were 11.7 (95% CI, 8.6-14.8) per 100?000 births in 2007 (n?=?54) and 10.3 (95% CI, 5.9-14.8) per 100?000 births (n?=?21) in 2013. Early infant deaths from critical congenital heart disease through December 31, 2013, decreased by 33.4% (95% CI, 10.6%-50.3%), with an absolute decline of 3.9 (95% CI, 3.6-4.1) deaths per 100?000 births after states implemented mandatory screening compared with prior periods and states without screening policies. Early infant deaths from other/unspecified cardiac causes declined by 21.4% (95% CI, 6.9%-33.7%), with an absolute decline of 3.5 (95% CI, 3.2-3.8) deaths per 100?000 births. No significant decrease was associated with nonmandatory screening policies.Conclusions and RelevanceStatewide implementation of mandatory policies for newborn screening for critical congenital heart disease was associated with a significant decrease in infant cardiac deaths between 2007 and 2013 compared with states without these policies.

Project description:BACKGROUND:The problem of childhood undernutrition in low-income countries persists despite long-standing efforts by local governmental and international development agencies. In order to address this problem, the Peruvian Ministry of Health has focused on improving access to primary healthcare and providing maternal and child health monitoring and education. Current maternal-child health policies in Peru introduce recommendations that are in some respect distinct from those of Indigenous highland communities. This paper analyses the similarities and differences between public health and mothers' infant feeding recommendations. Furthermore, it analyses persistence and change in those recommendations among women who were mothers before and after the introduction of current public health policies. METHODS:Semi-structured interviews were conducted with 18 older mothers, 15 currently breastfeeding mothers, and 15 public health staff in highland rural communities of Peru. During data analysis, thematic codes and text passages were used in an iterative analytic process to document emerging themes. RESULTS:The results highlight the existence of a traditional corpus of beliefs surrounding infant feeding and care that is consistent with Andean ethnomedical beliefs. This is illustrated by mother's accounts referring to the importance of maintaining a dietary balance of fluids and semi-fluids and of maintaining harmony with the elements in the natural environment. Mothers also incorporate aspects of public health recommendations that they find useful including initiating breastfeeding immediately after birth and exclusive breastfeeding up until 6 months. There are also tensions between the two systems including differences in the conceptualization of breastfeeding and infant food, the imposition of public health care services by coercive means, and negative stereotyping of rural Andean diets and mothers. CONCLUSIONS:Identifying similarities and differences between distinct systems may provide useful input for effective intercultural health policies. Sources of tension should be carefully assessed with the aim of improving public health policies. Such efforts should apply a process of cultural humility engaging health care professionals in exchange and conversations with patients and communities acknowledging the assumptions and beliefs that are embedded in their own understanding. This process should also recognize and value the knowledge and practices of Andean mothers and their role as primary caretakers.

Dataset Information

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

Publications

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

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