Nationwide, Couple-Based Genetic Carrier Screening
( N Engl J Med . 2024;391:1877–1889. doi:10.1056/NEJMoa2314768) The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) aimed to assess the feasibility and outcomes of offering reproductive genetic carrier screening (RGCS) to more than 10,000 reproductive couples, focusing on the identification of pathogenic variants in genes associated with severe, childhood-onset conditions. The study tested these couples (free of charge) for pathogenic variants in at least 1281 genes, linked to about 750 autosomal recessive or X-linked conditions. The primary objective was to evaluate the uptake of screening, participant attitudes, and psychosocial outcomes, as well as to explore the impact of genetic information on reproductive decision-making.
Authors
- Susan Walker (ORCID: https://orcid.org/0000-0001-9075-4655)
- Sarah J. Lewis (ORCID: https://orcid.org/0000-0003-4311-6890)
- Sharyn Stock‐Myer
- Zoe Fehlberg (ORCID: https://orcid.org/0000-0002-8449-206X)
- Nicholas Pachter (ORCID: https://orcid.org/0000-0002-8144-1363)
- Tristan Hardy (ORCID: https://orcid.org/0000-0002-5878-0340)
- Clare Hunt
- Jan Liebelt
- Luke W. Thomas (ORCID: https://orcid.org/0000-0002-2246-0361)
- Dimitar N. Azmanov (ORCID: https://orcid.org/0000-0003-4887-595X)
- Sebastian Lunke (ORCID: https://orcid.org/0000-0002-7168-0723)
- Corrina Cliffe (ORCID: https://orcid.org/0000-0003-4287-4307)
- C. Lee
- John Massie
- Anaita Kanga‐Parabia (ORCID: https://orcid.org/0000-0003-4656-9246)
- Tenielle Clinch
- Tara Catchpool
- Belinda McClaren (ORCID: https://orcid.org/0000-0002-1372-8258)
- Jade Caruana (ORCID: https://orcid.org/0000-0003-0335-6224)
- Kirsten Boggs
- Martin Downes (ORCID: https://orcid.org/0000-0003-3617-5307)
- Tony Roscioli (ORCID: https://orcid.org/0000-0003-1502-5000)
- Nigel G. Laing (ORCID: https://orcid.org/0000-0001-5111-3732)
- Ying Zhu (ORCID: https://orcid.org/0000-0002-6658-944X)
- JC Long
- Leslie Burnett (ORCID: https://orcid.org/0000-0001-7282-9596)
- Marta Cifuentes (ORCID: https://orcid.org/0000-0002-3347-0178)
- Michael Chow (ORCID: https://orcid.org/0000-0002-8074-3511)
- Rachael Casella
- J. Halliday
- Tahlia Theodorou
- Gilbert Ho (ORCID: https://orcid.org/0000-0002-6873-8090)
- Stefanie Eggers
- Julie McGaughran (ORCID: https://orcid.org/0000-0002-0926-7858)
- John Beilby (ORCID: https://orcid.org/0000-0002-4915-2254)
- Edwin Philip Kirk (ORCID: https://orcid.org/0000-0002-4662-0024)
- AD Archibald
- Sarah Righetti (ORCID: https://orcid.org/0000-0002-7430-3288)
- Mark R. Davis (ORCID: https://orcid.org/0000-0002-0626-9030)
- Erin Tutty (ORCID: https://orcid.org/0000-0001-8426-8298)
- Nila Quayum (ORCID: https://orcid.org/0000-0002-0113-2393)
- Lara Fitzgerald
- Paul Scuffham (ORCID: https://orcid.org/0000-0001-5931-642X)
- Justine E. Marum
- BH Bennetts
- Amy Ruscigno
- Marina Berbic
- Nora Lang (ORCID: https://orcid.org/0000-0002-6586-7890)
- Camron Ebzery (ORCID: https://orcid.org/0000-0003-3487-4542)
- Richard Allcock (ORCID: https://orcid.org/0000-0001-8770-0912)
- Samantha Sundercombe (ORCID: https://orcid.org/0000-0001-7174-0960)
- Jon Emery (ORCID: https://orcid.org/0000-0002-5274-6336)
- Rachel Ong (ORCID: https://orcid.org/0000-0001-8557-8802)
- Katrina Fisk
- Kristine K Barlow-Stewart (ORCID: https://orcid.org/0000-0003-1831-9944)
- Stephanie Best (ORCID: https://orcid.org/0000-0002-1107-8976)
- Katrina L. Scarff (ORCID: https://orcid.org/0000-0002-5195-9727)
- Lisa Dive (ORCID: https://orcid.org/0000-0001-6655-5138)
- Jeffrey Braithwaite (ORCID: https://orcid.org/0000-0003-0296-4957)
- Aparna Kulkarni (ORCID: https://orcid.org/0000-0003-2540-6931)
- Ainsley J. Newson (ORCID: https://orcid.org/0000-0002-3460-772X)
- Simranpreet Kaur (ORCID: https://orcid.org/0000-0002-0689-2965)
- K. J. Harrison (ORCID: https://orcid.org/0000-0002-6813-1854)
- F. Zhang
- Stephen M. Edwards
- MB Delatycki
- L Freeman
- J. C. Kennedy
- E. J. King
- Malinda N. Harris (ORCID: https://orcid.org/0000-0002-2618-8166)
- M. K. Wallis
- Sarah Jelenich
- M. Wall
- John Fletcher
- Bianca Rodrigues
- Isabelle Danos
- Lana Giameos (ORCID: https://orcid.org/0009-0005-0464-9100)
- EO Madelli
- MM Ferrie
- P. Kasi Pandy
- T. F. Boughtwood
Institutions
- Sydney Children's Hospital (AU)
Publication Details
- Journal
- Obstetric Anesthesia Digest
- Published
- 2025-02-18
- DOI
- https://doi.org/10.1097/01.aoa.0001097628.96519.7d
- Primary Topic
- Cystic Fibrosis Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 0.00