Tamización neonatal para linfopenias congénitas y otras enfermedades raras en el mundo / Newborn screening lymphopenias and other rare disease in the world

Las enfermedades raras son de baja frecuencia en una población, se caracterizan por ser crónicamente debilitantes, tener abordaje complejo y, en algunos casos, ser potencialmente mortales. Las pruebas de tamización neonatal pretenden detectar oportunamente a individuos con estas patologías antes que la enfermedad se manifieste, para prevenir una potencial discapacidad o la muerte. Actualmente, Estados Unidos de América cuenta con un panel de 32 enfermedades para tamización, siendo la espectrometría de masas en tándem la prueba más empleada para su estudio. Canadá, Europa, Asia y África evidencian un panorama heterogéneo a este respecto, influenciado por la incidencia de la enfermedad en la población, el aporte económico gubernamental y el acceso a la tecnología necesaria para su realización. En América Latina, la tamización neonatal ha tenido un desarrollo lento comparado con otras regiones, aunque existen países pioneros en estos programas. Como política pública, Colombia solo tamiza hipotiroidismo congénito, sin embargo, actualmente se adelantan estudios pilotos para la tamización neonatal de errores innatos del metabolismo y linfopenias congénitas. La identificación temprana de linfopenias congénitas ha tenido gran impacto socioeconómico en varios países, no solo para el sistema de salud sino también en la calidad de vida de los pacientes afectados. Aunque existen discrepancias éticas con el desarrollo de estos paneles, es evidente su crecimiento exponencial, lo que abre un nuevo panorama de salud pública enfocada a la prevención de la enfermedad y promoción de la salud en el mundo (AU)

Rare diseases are those with low frequency in a population7 however, they are chronically debilitating, have complex management approaches and in some cases, they are life threatening. Newborn screening has been developed to timely detect these conditions before the disease manifests, to prevent disability or death. Currently, United States of America screens a panel of 32 conditions and tandem mass spectrometry has became the most widely used methodology. Canada, Europe, Asia and Africa reveal a heterogeneous scenario, influenced by the disease incidence in the population, the government7s economic contribution and the access to technology. In Latin America, newborn screening has exhibited a more delayed development compared to other regions however, some countries are pioneers of these programs. As public policy, Colombia screens only congenital hypothyroidism, however, ongoing pilot studies for inborn errors of metabolism and congenital lymphopenia are being developed. Early identification of congenital lymphopenias has demonstrated in several countries considerable socioeconomic impact not only for health care providers but also for the patient quality of life. Although ethical concerns related to the development of newborn screening exist, the exponential growth of these programs opens new public health perspectives focused on prevention of disease and promotion of health worldwide (AU)

Recomendaciones sobre los aspectos éticos de los programas de cribado de población para enfermedades raras / The ethicals aspects of population screening programme of rare diseases

El Comité de Ética del Instituto de Investigación de EnfermedadesRaras (CEIIER) del Instituto de Salud Carlos III, dentro de lasactividades que desarrolla, ha preparado el presente documento derecomendaciones éticas con respecto a la puesta en marcha de programasde cribado de población, con especial referencia a los cribadosgenéticos. Basándose en una revisión crítica se han elaborado 24recomendaciones concernientes a 14 apartados que inciden principalmenteen los siguientes puntos: la evaluación de la pertinencia delprograma, incorporando al proceso el análisis ético, de las evidenciascientíficas y de la oportunidad de los costes; la necesidad de diferenciarentre investigación e intervención y de que el programa seaespecífico e integral; la creación de un grupo de trabajo interdisciplinarque controle su desarrollo y elabore un protocolo de programaque incluya su justificación, desarrollo y ejecución incluyendo lasactividades terapéuticas o preventivas y actividades de seguimiento;la revisión necesaria del programa por un Comité de Ética independiente;la garantía de acceso voluntario, universal y equitativo querequiere de la información sobre el programa y hechos específicos silos hubiera, como la detección accidental del estado heterocigoto enmenores en los programas de cribado neonatal y las necesidades deconsejo genético; la consideración del uso futuro de las muestrasremanentes; la calidad total y evaluación periódica del programa; lasgarantías de confidencialidad de los datos de carácter personal; ladeclaración de conflictos de intereses de los miembros de losComités implicados en el programa(AU)

The Committee on Ethics of the Instituto de Investigación deEnfermedades Raras (CEIIER) of the Spanish National Institute ofHealth Carlos III, presents this article dealing with ethical guidelinesregarding the implementation of screening population programmeswith special emphasis on genetic screening. After a critical review ithas been addressed 24 recommendations concerning 14 topics: evaluationof the opportunity of the programme, including ethical analysisbesides scientific evidences and cost/benefits issues; the need todifferentiate between research and public health intervention and tobuilt a specific and comprehensive programme; the creation of aninterdisciplinary working group which control its implementationand prepare a protocol including justification, development, therapeuticor preventive actions and follow-up activities; the review of theprogramme by an independent Ethical committee; the guarantee ofthe voluntary, universal and equitable population access, which requiressufficient information on the programme and their specific relevantfacts, as incidental detection of heterozygous state in minors innewborn screening and the relevance of non directive genetic counsellingspecially in prenatal screening offered to pregnant women; considerationsregarding future uses of samples for research purposes;total quality and periodic programme evaluation; guarantee of personaldata confidentiality and the conflict of interest statement of themembers of all the Committees involved in the programme(AU)

Newborn screening by tandem mass spectrometry: ethical and social issues.

Emerging technologies like Tandem Mass Spectrometry (TMS) enable multiple tests on a single blood sample and allow the expansion of Newborn Screening (NBS) to include various metabolic diseases. Introducing TMS for NBS raises important social and ethical questions: what are the criteria for adding disorders to screening panels? What evidence justifies expansion of screening? How can equity in NBS access and standards be ensured? How can policy standards be set, given the multiplicity of stakeholders? To address emerging issues, policy-makers, patient advocates, clinicians and researchers had a workshop during the 2005 Garrod Symposium. The participants received a summary of the discussion and understood the workshop's goal was to provide a basis for further discussion. This article contributes to this ongoing discussion. Several proposed recommendations assert the centrality of including social and ethical issues in the assessment of whether or not to introduce TMS. The article outlines five key recommendations for advancing the NBS agenda: national public health leadership; transparency; increased national consistency in NBS strategy, including minimum standards; collaboration between the federal and provincial/territorial governments and diverse stakeholders; and supporting research and/or programs based on effectiveness, which integrate ethical and social issues into assessment.

[Neonatal screening for congenital metabolic pathologies. Ethical and social aspects. Implications for nurses and midwives]. / Cribado neonatal de metabolopatías congénitas. Aspectos eticos y sociales. Implicaciones para enfermeras y matronas.

The authors describe the diseases which are detectable by means of neonatal screening programs available in the different Spanish Autonomous Communities. They analyze some of the ethical and social implications which may occur and they emphasize what those programs mean for nursing professionals, fundamentally midwives and nurses who work in primary health care units or pediatric units.

[Neonatal screening: trends, debates and consensus]. / Dépister les nouveau-nés: évolutions, débats et consensus.

This study focuses on the social and political implications of the substantial expansion of genetic tests and neonatal screening. The introduction of neonatal screening for cystic fibrosis is one of the significant developments that have fuelled debate on their appropriateness. It has raised a series of questions on the pros and cons, the role of evidence in biomedicine, and the articulation between the therapeutic approach and foetal selection. In this respect France provides an ideal research field as it was one of the first countries to generalize this screening, launched in January 2002. Several questions arise: What were the terms of the debate in France and their underlying logics? How was consensus reached? More generally, what does this screening tell us about policies on life forms today?