International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents

Abstract

Despite international adoption of newborn bloodspot screening (DBS), no two countries' screening programs are the same. This article aims to understand what factors influence DBS decision-making criteria and how conditions are assessed against them. In doing so, it offers unique insights into the international landscape of DBS. A systematic review on DBS criteria in scientific literature was first undertaken. Through this, five topics were identified for consideration when analyzing DBS decision-making. Using these five topics as a template, a side-by-side comparison was conducted on DBS in policy documents of eight countries. Programs are using different approaches to explore the same policy issues, including: the beneficiary of DBS, definition of criteria, the way conditions are assessed, level of evidence required, and recommendations after assessment. These differences have the potential to result in increased disparity across DBS internationally. Ultimately, governments need to decide on their role and develop an approach to DBS decision-making in line with this role. The analyses presented in this article highlight that despite programs' commonalities, no one 'DBS decision-making solution' exists. Understanding the different approaches to decision-making within the literature and policy settings, provides an objective starting point for structured decision-making approaches for DBS programs.

Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

“…As such, it is one of the NBS programs with the greatest benefits, and it has been adopted progressively and continuously since 1973, and by now, universally in high-income countries (2). …”

“…We make two arguments in support of lowering TSH cutoffs: (1) it increases the number of infants treated for CH and (2) it likely improves health and developmental outcomes. First, many infants with a mild increase of TSH subsequently are diagnosed with overt, permanent CH, many with normally located and shaped thyroid glands (3, 9, 10, 11, 12, 13, 14).…”

Investigação de Erros Inatos do Metabolismos na Associação de Pais e Amigos dos Excepcionais de Itabira – Minas Gerais

“…Muitos erros inatos se apresentam de maneira precoce, com frequência relativa no período neonatal (Wajner Vargas, Burin, Giugliani, & Coelho, 2001;Jansen, Metternick-Jones, & Lister, 2016). Na intoxicação crônica as manifestações clínicas que podem ser encontradas são atraso progressivo do desenvolvimento, distúrbio comportamental, retardo do crescimento, hipotonia, hipertonia, macrocefalia, microcefalia, epilepsia de difícil controle e alterações oculares (Martins, 2003).…”

Duchenne Muscular Dystrophy Newborn Screening, a Case Study for Examining Ethical and Legal Issues for Pilots for Emerging Disorders: Considerations and Recommendations

“…As patient and parent preferences always have been a part of the development of NBS programs and policy development [10][11][12][13][14], the authors acknowledge that the lived experience, personal stories, and knowledge about development of a rare disease are valuable to understanding the impact of a condition for newborns and families, as well as the potential benefits of early detection (even in the absence of established treatment). …”

“…Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) of the Secretary, Department of Health and Human Services, that evaluates the evidence to support addition of new disease screening programs to the Secretary's recommended uniform screening panel (RUSP) [7,8] (see ACHDNC evidence review process [9,10]). Different approaches to the evaluation and adoption of conditions for NBS, and resulting disparity in conditions screened, have been reviewed by the European Union [11][12][13] but these reports do not systematically address specific ethical and legal issues. The ACHDNC's evidence review process does consider harms and benefits to a limited extent, but again their process focuses generally on the technical aspects of screening, diagnosis and treatment and does not include a focused and in-depth review of the considerable ethical and legal issues that may arise when considering conditions that could be addressed during NBS pilots, such as Duchenne.…”