title: Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments.
abstract: BACKGROUND
  Consideration 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.
  
  
  METHODS
  In 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.
  
  
  RESULTS
  Forty-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.
  
  
  CONCLUSIONS
  A 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.
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health Western Australia , Perth, WA , Australia.
authors.forename: Caron M
authors.initials: CM
authors.lastname: Molster
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health Western Australia , Perth, WA , Australia.
authors.forename: Karla
authors.initials: K
authors.lastname: Lister
authors.affiliation: Sir Charles Gairdner Hospital , Perth, WA , Australia.
authors.forename: Selina
authors.initials: S
authors.lastname: Metternick-Jones
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health Western Australia, Perth, WA, Australia; Genetic Services WA, Perth, WA, Australia; School of Paediatrics and Child Health, University of Western Australia, Perth, WA, Australia; Institute for Immunology and Infectious Diseases, Murdoch University, Perth, WA, Australia; Telethon Kids Institute, University of Western Australia, Perth, WA, Australia; Western Australian Register of Developmental Anomalies, Perth, WA, Australia; Spatial Sciences, Department of Science and Engineering, Curtin University, Perth, WA, Australia.
authors.forename: Gareth
authors.initials: G
authors.lastname: Baynam
authors.affiliation: Division of Cancer and Genetics, School of Medicine, Cardiff University , Cardiff , UK.
authors.forename: Angus John
authors.initials: AJ
authors.lastname: Clarke
authors.affiliation: Institute of Human Genetics, University of Newcastle upon Tyne , Newcastle upon Tyne , UK.
authors.forename: Volker
authors.initials: V
authors.lastname: Straub
authors.affiliation: Office of Population Health Genomics, Public Health Division, Department of Health Western Australia, Perth, WA, Australia; Centre for Comparative Genomics, Murdoch University, Perth, WA, Australia; Centre for Population Health Research, Curtin University, Perth, WA, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, WA, Australia.
authors.forename: Hugh J S
authors.initials: HJ
authors.lastname: Dawkins
authors.affiliation: Centre for Medical Research, Harry Perkins Institute of Medical Research, University of Western Australia, Perth, WA, Australia; Neurogenetics Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, Department of Health Western Australia, Perth, WA, Australia.
authors.forename: Nigel
authors.initials: N
authors.lastname: Laing
keywords: carrier screening; expanded carrier screening; genetic carrier screening; government; public policy