Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

Abstract

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.

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

“…6 CEA for combined carrier screening of multiple conditions has been limited, 18 despite the availability of expanded carrier testing panels and recent calls for such work. 19…”

Responsibility, identity, and genomic sequencing: A comparison of published recommendations and patient perspectives on accepting or declining incidental findings

“…Despite its significance, however, the notion of “seriousness” remains a nebulous and poorly defined concept, in relation to both whole genome and exome sequencing (Korngiebel et al, ; Nuffield Council on Bioethics ; Sapp et al, ), but also genomic screening (Lazarin et al, ; Leo et al, ; Molster et al, ), with calls for more systematic guidelines on the classification of different genetic disorders along this dimension (Ceyhan‐Bisroy et al, ; Crouch, ).…”

The evolving landscape of expanded carrier screening: challenges and opportunities

“…Defining the impact of conditions as “severe” or “serious” often proves challenging. 43 Lazarin et al 44 developed a systematic classification of disease severity, arguing that severity is a good criterion because couples do not alter their plans when the condition is perceived as mild, and providers may refuse steps to prevent the birth of an affected child with a mild condition on moral or legal grounds. Some professionals and laypersons may have similar views on severity, 45,46 but other clinicians have objected to classifications based on severity.…”