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 Missionthe 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.
ABSTRACT
The present study investigated whether a distance-delivered intervention could significantly decrease mild to moderate postpartum depression (PPD) in mothers as compared to usual care. Mothers with PPD (n = 62) were randomly assigned to the intervention or standard community care. Participants receiving the intervention followed a 12-session cognitive behavioural informed handbook supplemented with telephone-based coaching support. Diagnostic status and depressive symptoms were assessed at baseline and 3, 6 and 12 months postrandomization. Odds ratios indicated that intervention group participants were 1.5 times as likely to experience diagnostic remission at 3 months (mid-intervention) (p = 0.742), 1.54 times as likely at 6 months (p = 0.696) and 12.5 times as likely at 12 months (p = 0.009). Intervention 'dosage' significantly moderated this effect; for every additional coaching session completed, individuals had a 1.4 times greater chance of showing improvement at 3 and 6 months. Mothers reported high satisfaction with the intervention. Findings suggest positive outcomes at each time point and superior outcomes to the control condition at the long-term follow-up. Caution in interpreting these results is warranted due to small sample size and incomplete data; however, they support further investigation into the use of distance interventions as an accessible and effective solution for women with PPD.
