Pàmpols Ros Teresa, Pérez Aytés Antonio, García Sagredo José Miguel, Díaz de Bustamante Aránzazu, Blanco Guillermo Ignacio
Sección de errores congénitos del metabolismo-IBC. Servicio de Bioquímica y Genética Molecular. Hospital Clínico de Barcelona. Barcelona. España.
Comisión de Ética de la Asociación Española de Genética Humana (AEGH). España.
Rev Esp Salud Publica. 2022 Mar 14;96:e202203030.
Genome sequencing is a very attractive technology as it is also the idea of sequencing children at birth, with the aim to establish medical care and preventive actions during their whole life, tailored to the genome of each newborn. Part I of this article analyses limitations and opportunities of next generation sequencing technologies (NGS). Part II relates scientific knowledge with ethical, legal and social issues (ELSIs) concerning its application to a newborn screening program. This program is offered universally to a vulnerable and asymptomatic population and must be guided by principles of "do not harm" and to act in the "best interest of child". With this purpose, this article considers, first of all, ethical principles of bioethics and public health that govern newborn screening. Then it summarizes main issues of our legal framework. And finally, in social context, it analyzes influences of technological imperative, commercial actors and patient´s advocacy groups, as well as parent's perspective and psychosocial aspects. In this context, conclusion is that whole genome sequencing should not be implemented as universal newborn screening. Nevertheless, the use of NGS could be an opportunity to extend these programs, including treatable infantile diseases that cannot be detected with other technologies. That means realizing a directed approach in order to identify well known genomic variants, highly penetrant, that confer a high risk of preventable or treatable diseases for which treatment must begin at the neonatal period. The implementation of such directed genomic screening should follow current evidence based model for newborn screening. This model shows three features: recognition of the importance of the evaluation of empirical, epidemiological and clinical data before taking the decision to include a disease; evaluation of benefits and risks (proportionality) and evaluation of benefits and costs (distributive justice); and finally, consideration of public consensus, because this kind of decisions have a value that concerns society as a whole.
基因组测序是一项非常有吸引力的技术，其理念是在婴儿出生时对其进行测序，目的是根据每个新生儿的基因组，在其一生中建立医疗护理和预防措施。本文第一部分分析了下一代测序技术（NGS）的局限性和机遇。第二部分将科学知识与有关其应用于新生儿筛查项目的伦理、法律和社会问题（ELSI）联系起来。该项目普遍提供给弱势群体和无症状人群，必须以“不伤害”原则为指导，并以“儿童的最大利益”行事。出于这个目的，本文首先考虑指导新生儿筛查的生物伦理学和公共卫生的伦理原则。然后总结了我们法律框架的主要问题。最后，在社会背景下，分析技术必要性、商业行为者和患者倡导团体的影响，以及父母的观点和心理社会方面。在这种背景下，结论是全基因组测序不应作为普遍的新生儿筛查来实施。然而，使用NGS可能是扩展这些项目的一个机会，包括检测其他技术无法检测到的可治疗婴儿疾病。这意味着要实现一种定向方法，以识别已知的、高外显率的基因组变异，这些变异会导致可预防或可治疗疾病的高风险，而这些疾病的治疗必须在新生儿期开始。这种定向基因组筛查的实施应遵循当前基于证据的新生儿筛查模式。该模式具有三个特点：在决定纳入一种疾病之前，认识到评估经验、流行病学和临床数据的重要性；评估益处和风险（相称性）以及评估益处和成本（分配正义）；最后，考虑公众共识，因为这类决策具有涉及整个社会的价值。
