TY - JOUR
T1 - The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission)
T2 - Design and Implementation
AU - The Mackenzie’s Mission Study Team
AU - Archibald, Alison D.
AU - McClaren, Belinda J.
AU - Caruana, Jade
AU - Tutty, Erin
AU - King, Emily A.
AU - Halliday, Jane L.
AU - Best, Stephanie
AU - Kanga-Parabia, Anaita
AU - Bennetts, Bruce H.
AU - Cliffe, Corrina C.
AU - Madelli, Evanthia O.
AU - Ho, Gladys
AU - Liebelt, Jan
AU - Long, Janet C.
AU - Braithwaite, Jeffrey
AU - Kennedy, Jillian
AU - Massie, John
AU - Emery, Jon D.
AU - McGaughran, Julie
AU - Marum, Justine E.
AU - Boggs, Kirsten
AU - Barlow-Stewart, Kristine
AU - Burnett, Leslie
AU - Dive, Lisa
AU - Freeman, Lucinda
AU - Davis, Mark R.
AU - Downes, Martin J.
AU - Wallis, Mathew
AU - Ferrie, Monica M.
AU - Pachter, Nicholas
AU - Scuffham, Paul A.
AU - Casella, Rachael
AU - Allcock, Richard J.N.
AU - Ong, Royston
AU - Edwards, Samantha
AU - Righetti, Sarah
AU - Lunke, Sebastian
AU - Lewis, Sharon
AU - Walker, Susan P.
AU - Boughtwood, Tiffany F.
AU - Hardy, Tristan
AU - Newson, Ainsley J.
AU - Kirk, Edwin P.
AU - Laing, Nigel G.
AU - Delatycki, Martin B.
N1 - Funding Information:
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) is funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission (GHFM), grant GHFM73390 (MRFF-G-MM). 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. Nigel G. Laing was funded by the Australian National Health and Medical Research Council Principal Research Fellowship APP1117510.
Funding Information:
This study was funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission. Human Research Ethics Committee (HREC) approval was obtained to conduct the study in all Australian states and territories (see for a list of HREC approvals). Site-specific governance approval was obtained for recruitment through 22 publicly funded healthcare services (hospitals and clinical genetics services). Site-specific governance approval was not required for recruitment in private healthcare settings (general practice, private obstetrics, midwifery and ultrasound, and some fertility services) as HREC approval was deemed to be sufficient. In addition to the incidental recruitment of Aboriginal and Torres Strait Islander participants, specific HREC approval was obtained to purposefully recruit in Indigenous healthcare settings.
Publisher Copyright:
© 2022 by the authors.
PY - 2022/11
Y1 - 2022/11
N2 - Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.
AB - Reproductive genetic carrier screening (RGCS) provides people with information about their chance of having children with autosomal recessive or X-linked genetic conditions, enabling informed reproductive decision-making. RGCS is recommended to be offered to all couples during preconception or in early pregnancy. However, cost and a lack of awareness may prevent access. To address this, the Australian Government funded Mackenzie’s Mission—the Australian Reproductive Genetic Carrier Screening Project. Mackenzie’s Mission aims to assess the acceptability and feasibility of an easily accessible RGCS program, provided free of charge to the participant. In study Phase 1, implementation needs were mapped, and key study elements were developed. In Phase 2, RGCS is being offered by healthcare providers educated by the study team. Reproductive couples who provide consent are screened for over 1200 genes associated with >750 serious, childhood-onset genetic conditions. Those with an increased chance result are provided comprehensive genetic counseling support. Reproductive couples, recruiting healthcare providers, and study team members are also invited to complete surveys and/or interviews. In Phase 3, a mixed-methods analysis will be undertaken to assess the program outcomes, psychosocial implications and implementation considerations alongside an ongoing bioethical analysis and a health economic evaluation. Findings will inform the implementation of an ethically robust RGCS program.
KW - bioethics
KW - health economics
KW - implementation science
KW - psychosocial outcomes
KW - reproductive genetic carrier screening
UR - http://www.scopus.com/inward/record.url?scp=85141861846&partnerID=8YFLogxK
U2 - 10.3390/jpm12111781
DO - 10.3390/jpm12111781
M3 - Article
C2 - 36579509
AN - SCOPUS:85141861846
SN - 2075-4426
VL - 12
JO - Journal of Personalized Medicine
JF - Journal of Personalized Medicine
IS - 11
M1 - 1781
ER -