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International perspectives on the implementation of reproductive carrier screening |
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| Authors: | Martin B Delatycki Fowzan Alkuraya Alison Archibald Carlo Castellani Martina Cornel Wayne W Grody Lidewij Henneman Adonis S Ioannides Edwin Kirk Nigel Laing Anneke Lucassen John Massie Juliette Schuurmans Meow-Keong Thong Irene van Langen Joël Zlotogora |
| Institution: | 1. Victorian Clinical Genetics Services, Parkville, Victoria, Australia;2. Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia College of Medicine, Alfaisal University, Riyadh, Saudi Arabia;3. Victorian Clinical Genetics Services, Parkville, Victoria, Australia Murdoch Children's Research Institute, Parkville, Victoria, Australia Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia;4. Cystic Fibrosis Centre, IRCCS Istituto Giannina Gaslini, Genoa, Italy;5. Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands Amsterdam Reproduction and Development Research Institute, Amsterdam, The Netherlands;6. Divisions of Medical Genetics and Molecular Diagnostics, Departments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, California, USA UCLA Institute for Society and Genetics, Molecular Diagnostic Laboratories and Clinical Genomics Center, UCLA Medical Center, Los Angeles, California, USA;7. Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands;8. Clinical Genetics, University of Nicosia Medical School, Nicosia, Cyprus;9. Sydney Children's Hospital, Randwick, New South Wales, Australia New South Wales Health Pathology, Randwick, New South Wales, Australia School of Women's and Children's Health, University of New South Wales, Randwick, New South Wales, Australia;10. University of Western Australia Centre for Medical Research and Harry Perkins Institute of Medical Research, QEII Medical Centre, Nedlands, Western Australia, Australia Neurogenetic Unit, Department of Diagnostic Genomics, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, Western Australia, Australia;11. Faculty of Medicine, Southampton Medical School, University of Southampton, Southampton, UK;12. Murdoch Children's Research Institute, Parkville, Victoria, Australia Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia Department of Respiratory Medicine, Royal Children's Hospital, Parkville, Victoria, Australia;13. Faculty of Medicine, Southampton Medical School, University of Southampton, Southampton, UK Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;14. Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia;15. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands;16. Hadassah-Hebrew University Medical School, Jerusalem, Israel |
| Abstract: | Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors. |
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