The Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission): Design and Implementation

Abstract

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.

Medicare‐funded reproductive genetic carrier screening in Australia has arrived: are we ready?

“…Non-pregnant increased Perspectives chance couples were also offered access to one subsidised IVF cycle for PGT. 23 Preliminary results from this study found that about 1 in 50 Australian reproductive couples will be identified as increased chance when expanded carrier screening is implemented. 24 We expect that the community, health economic and clinical benefits of expanded carrier screening will inevitably lead to widespread uptake in the near future.…”

“…All increased chance couples were urgently referred to local genetics services for result counselling, support, follow‐up, and access to prenatal testing where requested. Non‐pregnant increased chance couples were also offered access to one subsidised IVF cycle for PGT 23 …”

Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations

“…The tragic of a baby to SMA in Australia has fueled a large-scale reproductive carrier screening program for 750 genetic conditions ("Mackenzie's Mission") in Australia 19 . The estimated SMA incidence in both Arab countries studied here is signi cantly higher than that in other populations worldwide 7 , a nding which is consistent with the expectedly higher incidence of recessive disorders in Arab populations, suggesting that premarital genetic screening is likely to be an effective preventive measure in those populations.…”

Special Issue: “Genetic Counseling and Genetic Testing in Precision Medicine”

“…A difficulty lies in addressing potential conflicts between commercial and patient interests. One article in the Special Issue contributes towards filling this gap identified by Edwards et al [ 9 ]. This paper details the protocol of the Australian reproductive genetic carrier screening project Mackenzie’s Mission to generate implementation evidence to inform a national program [ 9 ].…”