The Congress of Deputies hosted the IV Neonatal Screening Conference last Monday, with the slogan "Towards universal and equitable neonatal screening in Spain". The meeting brought together health professionals, institutional representatives, patient associations, and experts with the purpose of analyzing the pending challenges in consolidating a more homogeneous national screening model.
The event, which was organized by BioInnova Consulting, was coordinated by Pedro Lendínez, president of the Más Visibles Association and had the support of Immedica Pharma, Danone Nutricia, and PTC Therapeutics.
Javier Padilla, Secretary of State for Health, inaugurated the conference by recalling that the increase in the portfolio of neonatal screening services is one of the great measures to "be proud of". He explained that the Ministry's role is not to be the "driver of screenings, but to be the ground from which the communities can expand screenings".
Furthermore, Padilla stressed the importance of focusing on the quality of screening, as it is not enough for diseases to be included in the portfolio of services, but rather the screening must be carried out at the appropriate time and accompanied by an effective care response. Referring to the Universal Screening Law, he declared that it is one of the laws that "must see the light of day during this legislature".
Borja Smith, CEO of Bioinnova, recalled that neonatal screening "is one of the most effective public health tools in our healthcare system" and added that "the place of birth cannot determine the opportunities or rights of a newborn". Jorge Lago, head of Nutritional Specialties at Danone Nutricia, pointed out "that we need to support each other: industry, the Ministry, health professionals, and patients, because by working together we can move towards a future in which the quality of patients' lives is increasingly better, from a comprehensive approach in which nutrition plays a key role.
Paula Rentero, general director of Immedica Pharma in Spain and Portugal, pointed out that guaranteeing patients' access to treatments for screenable diseases requires having homogeneous screening throughout the national territory that facilitates early detection. Likewise, Iria Nieto, general director of PTC Therapeutics in Spain and Portugal, joined the message, insisting that, in recent years, there has been an impulse in neonatal screening at the diagnostic level, but there must be an improvement in care pathways so that the diagnosis can reach all patients.
Pedro Lendínez pointed out that we are at a turning point to promote a solid consensus around a Neonatal Screening Law and highlighted the Popular Legislative Initiative aimed at transferring this demand to the legislative sphere with the support of all citizens. He also recalled that "neonatal screening is a tool for equity and prevention, it is an opportunity" and that "talking about screening is not just talking about health technology, it is talking about justice and equal opportunities from the first day of life."
Estefanía García, Deputy General Director of Health Promotion, Prevention and Equity of the Ministry of Health, detailed the evolution of neonatal screening in recent years, going from 7 to 22 diseases included in the SNS's portfolio of services. García added that, while being aware of the challenges that still lie ahead, there are several lines of work with which the Ministry seeks to improve the program at the national level: national consensus protocols, the updating of the population screening framework document, and a Neonatal Screening Law that allows programs to be updated more agilely and equitably.
In the first panel discussion, Amaya Belanger, vice president of the Spanish Association for the Study of Congenital Metabolic Errors (AECOM), of the Pediatric Metabolic Diseases unit of the Ramón y Cajal Hospital and advisor to the Neonatal Screening Program of the Community of Madrid, pointed out that it is not enough to increase the number of diseases, but to ensure the quality of screening: pathways, treatments, and registries must be guaranteed for everyone.
For her part, Carmen Delgado, spokesperson for AECOM and member of the Clinical Biochemistry service at the Virgen del Rocío University Hospital in Seville, highlighted that homogeneity should also be reflected in response times, as it is a race against time: it is of little use for the catalog of diseases to be the same if in one community the sample arrives in 48 hours and in another it takes 10 days. Furthermore, she pointed out that, to guarantee equity, it must be ensured that the system functions with the same agility and precision throughout the territory.
Along the same lines, María José García, coordinator of Neonatal Screening Programs in the Canary Islands and Technician of the Hospital Care Service of the General Directorate of Healthcare Programs of the SCS, emphasized that the success of the screening program also relies on the ability to have a rapid, efficient, and safe diagnostic and therapeutic response. Therefore, as she explained, both "extraordinary coordination" among all involved professionals and tools that facilitate overcoming administrative barriers are necessary.
María Luz Couce, AECOM representative at the Ministry of Health and specialist in the Neonatology Service of the Congenital Metabolic Diseases Diagnosis and Treatment Unit at the Santiago de Compostela Clinical Hospital, stressed that screening implies a "commitment to action." And, therefore, "it must be understood as a longitudinal healthcare service: everything starts with a drop of blood that continues with detection, diagnosis, treatment, follow-up, support from family and patient associations, and periodic program review." She also advocated that "quality and equity are essential, but our children deserve us to anticipate the future through genomic screening that can place us at the forefront in Europe."
José María Blanco, deputy director of Public Health and Head of Population Screenings of the Public Health Service of the Principality of Asturias, made it clear that "we cannot renounce what citizens demand" and explained that "technical capacity determines the scope of screenings at the regional level, so we must be able to provide the same technical requirements in all communities."
Furthermore, he recalled that result indicators and longitudinal data for monitoring diagnosed children must be available. "Without an exhaustive, universal, complete, and comprehensive information system, we will not be able to measure the real quality of screening programs," he argued.
Raquel Yahyaoui, head of the Neonatal Screening Center of Eastern Andalusia and head of the metabolopathy laboratory at the Regional University Hospital of Malaga, in addition to moderating the discussion panel, wanted to emphasize that a firm commitment from the Ministry is necessary, even though the competencies have been transferred to the communities. Furthermore, she pointed out that the incorporation of diseases into screening programs must be based on "solid criteria of scientific evidence, effective access to treatments, and social value for patients and their families."
In the second panel, titled "Strengthening neonatal screening as a health priority: institutional coordination to guarantee universal screening," representatives from the main parliamentary groups of the Congress's Health Commission debated the necessary instruments to guarantee real equity in access from the legislative sphere. And they shared their perspectives on a future Universal Neonatal Screening Law.
The conference concluded with the intervention of Elena Andradas, Director General of Public Health of the Ministry of Health of the Community of Madrid, who wanted to point out that the neonatal screening program "is not only an essential Public Health program, but it is truly a collective responsibility, with newborns, their families, and with society." She also announced that the Community of Madrid is expected to expand its neonatal screening program to 37 diseases before the end of the year.
Furthermore, she explained that the neonatal screening program "must go hand in hand with advanced therapies. And, in this regard, the Community of Madrid is committed to incorporating into the screening program all those diseases that have a funded advanced therapy."