Attitudes of professional stakeholders toward the implementation of reproductive genetic carrier screening: a systematic review
Dave L, Newson A. Ethical issues in reproductive gene carrier screening. Med J Ost. 2021; 214: 165-7.
Google Scholar
Antonarakis SE. Carrier screening for recessive disorders. Nat Rev Genet. 2019; 20: 549-61.
Langlois S, Benn P, Wilkins-Haug L. Current controversies in prenatal diagnosis 4: Expanded carrier screening before pregnancy should replace all current prenatal screening for specific single gene disorders. Prenatal Diagnostics. 2015; 35:23-8.
Google Scholar
Kraft SA, Duenas D, Wilfond BS, Goddard Kapp. The evolving landscape of expanded carrier screening: challenges and opportunities. Genet Med J Am Cole Med Genet. 2019; 21: 790-7.
Google Scholar
Schneider JL, Goddard KAB, Davis J, Wilfond B, Kauffman TL, Reiss JA, et al. Is it worth knowing? Perceived benefit to focus group participants of pre-screening a genomic carrier. J Genet Counts. 2016; 25: 135-45.
Google Scholar
Kumar P, Radhakrishnan J, Chaudhary MA, Giampietro PF. Prevalence and presentation patterns of genetic disorders in the pediatric emergency department. Mayo Clin Proc. 2001; 76: 777-83.
Friedman H, Yentema HG, Maggi R, Anderson R, Metspalo A, Mezzavella M, et al. The landscape of genetically recessive pathogenic variants in European populations reveals phenotype-specific effects. I’m J Hum Genet. 2021; 108: 608–19.
Van der Hout S, Dondorp W, de Wert G. The goals of comprehensive noninvasive carrier screening: autonomy, prevention, and responsible parenthood. Bioethics 2019; 33: 568–76.
Google Scholar
Delatycki MB, Alkuraya F, Archibald A, Castellani C, Cornel M, Grody WW et al. International perspectives on the implementation of reproductive carrier screening. Prenatal Diagnostics. 2020; 40: 301-10.
Google Scholar
Silver G, Norton ME. Extended carrier screening and implementation complexity. Obstet Gynecol. 2021; 137: 345-50.
Google Scholar
Andermann A, Blancquaert I, Déry V. Genetic screening: a conceptual framework for programs and policymaking. J Health Serv Res. Policy. 2010; 15:90-7.
Google Scholar
Gregg AR, Aarabi M, Klugman S, Leach NT, Bashford MT, Goldwasser T, et al. Screening for recessive and X-linked conditions during pregnancy and before pregnancy: an exercise resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med J Am Cole Med Genet 2021; 23: 1793-806.
Google Scholar
Liberati A, Altman DG, Tetzlaff J, Mulrow C, Gøtzsche PC, Ioannidis JPA et al. PRISMA Statement for Reporting Systematic Reviews and Meta-Analyses of Studies Evaluating Healthcare Interventions: Explanation and Explanation. BMJ 2009; 339: b2700.
Google Scholar
Hawker S, Payne S, Kerr C, Hardey M, Powell J. Evaluation of evidence: a systematic review of disparate data. Quality Health Res. 2002; 12: 1284-1999.
Google Scholar
Thompson J, Vogel Postula K, Wong K, Spencer S. Practices of prenatal genetics counselors and level of confidence when counseling about cancer risks identified in expanded carrier screening. J Genet Counts. 2019; 28:908-14.
Google Scholar
Arjunan A, Bellerose H, Torres R, Ben-Shachar R, Hoffman JD, Angle B, et al. Risk assessment and classification of 176 genes on an expanded carrier screening panel. Prenatal Diagnostics. 2020; 40: 1246–57.
Janssens S, Chokoshvili D, Vears D, De Paepe A, Borry P. Attitudes of European geneticists regarding expanded carrier screening. J Obstet Gynecol Neonatal Nur Jognn. 2017; 46: 63-71.
Google Scholar
Benn P, Chapman AR, Erickson K, Defrancesco MS, Wilkins-Haug L, Egan JFX, et al. Obstetricians and gynecologists’ practice and opinions on noninvasive prenatal testing and noninvasive prenatal testing. Prenatal Diagnostics. 2014; 34: 145-52.
Google Scholar
Janssens S, Chokoshvili D, Vears DF, De Paepe A, Borry P. Considerations for pre- and post-test counseling to provide noninvasive carrier screening: an exploration of the opinions of European geneticists. BMC Med Ethics. 2017; 18:46.
Google Scholar
Cho D, McGowan ML, Metcalfe J, Sharp RR. Noninvasive carrier screening in reproductive health care: perspectives of geneticists. Homoum Reproduce Oxv Engel 2013; 28: 1725-30.
Holtkamp KCA, Vos EM, Rigter T, Lakeman P, Henneman L, Cornel MC. Stakeholder perspectives on the implementation of genetic carrier screening in a changing landscape. BMC Health Surf Res. 2017; 17: 146. 16.
Google Scholar
Rain A, Kihlbom U, Höglund AT. Perceptions of Swedish healthcare providers about carrier screening (ECS) – a qualitative study. J Community Genet. 2016; 7: 203-14.
Schuurmans J, Birnie E, van den Heuvel LM, Plantinga M, Lucassen A, van der Kolk DM, et al. Feasibility of couple-based expanded screening offered by general practitioners. Eur J Hum Genet Ejhg. 2019; 27: 691-700.
Google Scholar
Stark Z, Massie J, McClaren B, Ioannou L, Cousens N, Lewis S, et al. Current practice and attitudes of Australian obstetricians towards population-based carrier screening for inherited conditions. Precision Twin Hum Genet J Int Soc Twin Stud. 2013; 16:601-7.
Google Scholar
Molster CM, Lester K, Metternick-Jones S, Paynam J, Clark AJ, Straub V, et al. Results of an international workshop on expanded vector screening before conception: some considerations for governments. before public health. 2017; 5:25.
Google Scholar
Lazarin GA, Detweiler S, Nazareth SB, Ashkinadze E. Perspectives and practices of genetic counselors regarding expanded carrier screening after initial clinical availability. J Genet Counts. 2016; 25: 395-404.
Google Scholar
Matar A, Hanson MG, Hoglund AT. Values and values conflicts in the implementation and use of preconceived noninvasive vector screening–an expert interview study. BMC Med Ethics. 2019; 20:25.
Google Scholar
Ready K, Haque IS, Srinivasan BS, Marshall JR. Knowledge and attitudes regarding expanded gene carrier screening among women’s healthcare providers. Fertil is sterile. 2012; 97:407-13.
Google Scholar
Matar A, Hanson MG, Hoglund AT. An “ideal society” – Swedish policymakers’ moral and social views on preconception led to a broader scrutiny of carriers. J Community Genet. 2019; 10:267–80.
Google Scholar
Briggs A, Norrie BK, Galloway M, O’Leary K, Pereira N, Lindheim S. Expanded carrier screening: a current survey of clinician use and attitudes. J Reprod Genet Help. 2018; 35: 1631-40.
Google Scholar
Chokoshvili D, Janssens S, Vears D, Borry P. Design of noninvasive carrier screening panels: results of a qualitative study with European geneticists. Pierce Med. 2016; 13: 553-62.
Best S, Long J, Theodorou T, Hatem S, Lake R, Archibald A et al. Health practitioners’ perceptions of barriers and enablers to implementing reproductive gene carrier screening: a systematic review. Prenatal Diagnostics. 2021; 41: 708-19.
Google Scholar
Committee Opinion No. 690. Screening of Carriers in the Age of Genomic Medicine. Obstet Gynecol. 2017; 129: e35-40.
Google Scholar
Henneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F et al. Responsible implementation of expanded carrier screening. Eur J Hum Genet EJHG. 2016; 24: e1-12.
Google Scholar
Ong R, Edwards S, Howting D, Kamien B, Harrop K, Ravenscroft G, et al. Study protocol for a multicenter pilot study implementing an expanded pre-visualization carrier screening program in the Australian capital and western territories. BMJ is open. 2019; 9: e028209.
Google Scholar
Rapport F, Clay-Williams R, Churruca K, Shih P, Hogden A, Braithwaite J. The struggle to translate science into action: Fundamental concepts of implementation science. J Evall Klein Pr. 2018; 24: 117-26.
Google Scholar