Labrador Cañadas Mª Vicenta, Pàmpols Ros Teresa, Dulín Íñiguez Elena, Pérez Aytés Antonio, García Sagredo José Miguel, Díaz de Bustamante Aránzazu, Martín Arribas Concepción, García López Fernando José, Nicolás Jiménez Pilar
Unidad de Programas de Cribado. Dirección General de Salud Pública. Ministerio de Sanidad. Madrid. España.
Sección de errores congénitos del metabolismo-IBC. Servicio de Bioquímica y Genética Molecular. Hospital Clínico. Barcelona. España.
Rev Esp Salud Publica. 2021 Jan 26;95:e202101016.
Decision making for the development of newborn screening programs is based on not only medical but also social concerns and involves different stakeholders. Part III of the article focuses on their role in the governance of the programs. First of all, we consider the proactive role that health authorities has played in the evolution to an evidentiary model of policy development currently based on evidence, just as in the preparation of an expert, impartial and transparent opinion on health policy and its coordination with the national health system. And, in accordance with this evidence and with the consensus, health autorities following quality criteria have made an attempt to achieve a more homogeneous approach of the neonatal screening program throughout the territory. Secondly, we address the role of several scientific and professional societies in newborn screening. Among them, it deserves to be mentioned the Spanish Society for Clinical Chemistry, currently Spanish Society of Laboratory Medicine (SEQCML), and its Commission of inborn errors of metabolism and the Spanish Society for Newborn Screening (AECNE), which since 1985 and for thirty three years collected the activity of newborn screening centers and established a forum for debate, sharing of knowledge and cooperation among screening centers and with health authorities. Since 1999, the Spanish Society for Inborn Errors of Metabolism (AECOM) exercises an important activity in the field of diagnosis treatment and follow up of patients. Finally, we consider the role of families and the psychosocial aspects of the programme, and the associative activity of patient organizations. In 1990 the Spanish federation of PKU and other disorders (FAEPKU) was found, renamed currently as The Spanish Federation of Inherited Metabolic Diseases; together with the Spanish Federation for Rare Diseases (FEDER), found in 1999, they both have clearly contributed to the patient's empowerment, supporting research and education and establishing a network of cooperation and support for patients and their families. Patient organizations collaborate with health authorities but they have not participated in policy decision making yet. During this half century, the evolution of newborn screening programs have been characterized for a spirit of improvement, by including the development of ethical, legal and social issues. Important technological challenges lie ahead and it will be necessary to know how to use them efficiently, proportionally and fairly in the best interest of newborns and by extension of their family and society.
新生儿筛查项目的制定决策不仅基于医学考量，还涉及社会关切，且有不同利益相关者参与其中。本文第三部分聚焦他们在项目治理中的作用。首先，我们探讨卫生当局在向基于证据的政策制定证据模型演变过程中所发挥的积极作用，这正如在准备一份关于卫生政策的专业、公正且透明的意见及其与国家卫生系统的协调方面所发挥的作用一样。并且，依据这一证据并达成共识，卫生当局遵循质量标准，试图在全国范围内实现新生儿筛查项目更趋同质化的方法。其次，我们阐述几个科学和专业协会在新生儿筛查中的作用。其中，值得一提的是西班牙临床化学学会，现称西班牙实验医学学会（SEQCML）及其先天性代谢缺陷委员会，还有西班牙新生儿筛查学会（AECNE），自1985年起的三十三年间，该学会收集了新生儿筛查中心的活动情况，并为筛查中心之间以及与卫生当局之间建立了一个辩论、知识共享与合作的论坛。自1999年以来，西班牙先天性代谢缺陷学会（AECOM）在患者诊断、治疗及随访领域开展了重要活动。最后，我们考量家庭的作用、项目的社会心理层面以及患者组织的社团活动。1990年成立了西班牙苯丙酮尿症及其他疾病联合会（FAEPKU），现更名为西班牙遗传性代谢疾病联合会；与1999年成立的西班牙罕见病联合会（FEDER）一起，它们都为增强患者权能、支持研究与教育以及为患者及其家庭建立合作与支持网络做出了显著贡献。患者组织与卫生当局合作，但尚未参与政策决策。在这半个世纪里，新生儿筛查项目的发展一直以改进精神为特征，涵盖了伦理、法律和社会问题的发展。未来还面临重要的技术挑战，有必要知道如何以新生儿及其家庭和社会的最大利益为出发点，高效、适度且公平地利用这些技术。
