15 research outputs found

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

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    Published: 28 October 2022Reproductive 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鈥檚 Mission鈥攖he Australian Reproductive Genetic Carrier Screening Project. Mackenzie鈥檚 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.Alison D. Archibald ... Tristan Hardy ... et al. and The Mackenzie鈥檚 Mission Study Tea

    Data on spin-singlet to triplet Cooper pair converter interface

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    This dataset contains the measurements reported in the manuscript "Spin-singlet to triplet Cooper pair converter interface". In this study, we fuse magnetism and superconductivity in a system where spin-ordering and diffusion of Cooper pairs are achieved at a non-intrinsically magnetic nor superconducting Cu/C60 interface. Electron transport, magnetometry and low-energy muon spin rotation are used to probe time-reversal symmetry breaking in these structures
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