BackgroundThe use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.MethodsThe Paediatric Task Team of the Global Alliance for Genomics and Health’s Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers.ResultsBefore genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established. In addition, each jurisdiction needs to resolve ethical and policy issues regarding the disclosure of incidental or secondary findings to families and ownership, appropriate storage and sharing of genomic data.ConclusionThe best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening.

BackgroundConsideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment of expanded carrier screening. Given this, a workshop was held to identify key public policy issues related to preconception expanded carrier screening, which governments should consider when deciding whether to publicly fund such programs.MethodsIn June 2015, a satellite workshop was held at the European Society of Human Genetics Conference. It was structured around two design features: (1) the provision of information from a range of perspectives and (2) small group deliberations on the key issues that governments need to consider and the benefits, risks, and challenges of implementing publicly funded whole-population preconception carrier screening.ResultsForty-one international experts attended the workshop. The deliberations centered primarily on the conditions to be tested and the elements of the screening program itself. Participants expected only severe conditions to be screened but were concerned about the lack of a consensus definition of “severe.” Issues raised regarding the screening program included the purpose, benefits, harms, target population, program acceptability, components of a program, and economic evaluation. Participants also made arguments for consideration of the accuracy of screening tests.ConclusionA wide range of issues require careful consideration by governments that want to assess expanded carrier screening. Traditional criteria for government decision-making regarding screening programs are not a “best fit” for expanded carrier screening and new models of decision-making with appropriate criteria are required. There is a need to define what a “severe” condition is, to build evidence regarding the reliability and accuracy of screening tests, to consider the equitable availability and downstream effects on and costs of follow-up interventions for those identified as carriers, and to explore the ways in which the components of a screening program would be impacted by unique features of expanded carrier screening.

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.