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

Abstract

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. This study investigates the facilitators and barriers to offering RGCS in general practice.

Method: Fifteen Victorian GPs who had offered RGCS for CF, SMA and FXS participated in semi-structured telephone interviews. A behavioural change framework was used for this study.

Results: Barriers to offering screening (eg out-of-pocket costs, low frequency of preconception care and lack of GP education) mapped predominantly onto the 'opportunity' domain of the behaviour change framework.

Discussion: Reducing out-of-pocket costs and increasing the provision of preconception care and GP education will provide more people with the opportunity to make informed choices about participation in RGCS.