Nationwide, Couple-Based Genetic Carrier Screening

EP Kirk; MB Delatycki; AD Archibald; E Tutty; J Caruana; JL Halliday; S Lewis; BJ McClaren; AJ Newson; L Dive; S Best; JC Long; J Braithwaite; MJ Downes; PA Scuffham; J Massie; K Barlow-Stewart; A Kulkarni; A Ruscigno; A Kanga-Parabia; B Rodrigues; BH Bennetts; C Ebzery; C Hunt; CC Cliffe; C Lee; D Azmanov; EA King; EO Madelli; F Zhang; I Danos; J Liebelt; J Fletcher; J Kennedy; J Beilby; JD Emery; J McGaughran; JE Marum; K Scarff; K Fisk; K Harrison; K Boggs; L Giameos; L Fitzgerald; L Thomas; L Burnett; L Freeman; M Harris; M Berbic; MR Davis; MC Ochoa; M Wallis; M Wall; MTM Chow; MM Ferrie; N Pachter; N Quayum; N Lang; PK Pandy; R Casella; RJN Allcock; R Ong; S Edwards; S Sundercombe; S Jelenich; S Righetti; S Lunke; S Kaur; S Stock-Myer; S Eggers; SP Walker; T Theodorou; T Catchpool; T Clinch; T Roscioli; T Hardy; Y Zhu; Z Fehlberg; TF Boughtwood; NG Laing

Journal article

Nationwide, Couple-Based Genetic Carrier Screening

EP Kirk, MB Delatycki, AD Archibald, E Tutty, J Caruana, JL Halliday, S Lewis, BJ McClaren, AJ Newson, L Dive, S Best, JC Long, J Braithwaite, MJ Downes, PA Scuffham, J Massie, K Barlow-Stewart, A Kulkarni, A Ruscigno, A Kanga-Parabia Show all

New England Journal of Medicine | Published : 2024

DOI: 10.1056/NEJMoa2314768

Abstract

Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition. METHODS We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie’s Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy. The results obtained from testing at least 1281 genes were provided to the reproductive couples. We aimed to ascertain the psychosocial effects on participants, the acceptability of scree..

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University of Melbourne Researchers

Martin Delatycki Author

Alison Archibald Author

Jane Halliday Author

Sharon Lewis Author

Related Projects (1)

Improving access and equity to blood cancer genomic diagnostics and treatment in the Northern Territory - GNT2000001

Grants

Awarded by National Health and Medical Research Council

Funding Acknowledgements

Supported by grant GHFM73390 (previously designated GHFMRCMM000001) from the Australian government's Medical Research Future Fund as part of the Genomics Health Futures Mission. The grant is administered by the Murdoch Children's Research Institute through Australian Genomics. Australian Genomics receives funding from the National Health and Medical Research Council (grants GNT1113531 and GNT2000001) and the Australian government's Medical Research Future Fund.