Offering reproductive genetic carrier screening for cystic fibrosis, spinal muscular atrophy and fragile X syndrome: Views of Victorian general practitioners.

Background And Objectives: The Royal Australian College of General Practice recommends that all women contemplating pregnancy or in early pregnancy should be offered reproductive genetic carrier screening (RGCS). In November 2023, a new Medicare item number was introduced for RGCS to detect cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS) carrier status. The role of general practice in offering RGCS is recognised as being of crucial importance, but only a minority of general practitioners (GPs) are offering such screening.

Nationwide, Couple-Based Genetic Carrier Screening.

Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.

Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.

Recruiting for Engagement in Health Policy.

Background: Who participates in public and patient engagement processes, and in what capacity they participate, matters. The strategies employed to recruit participants shape the outcomes and legitimacy of engagement processes. We explore these issues through a case study of workshop recruitment.

Trends in Government-Initiated Public Engagement in Canadian Health Policy From 2000 to 2021.

Introduction: Canada has a rich history of public engagement in health policy; however, shifts in engagement practices over time have not been critically examined.

Methodology: We searched for cases of government-initiated public engagement in Canadian health policy from 2000 to 2021 at the federal, provincial (Ontario, British Columbia, Nova Scotia) and pan-Canadian levels. Government databases, portals and platforms for engagement were searched, followed by academic and grey literature using relevant search terms.