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

Aust J Gen Pract. 2024 Dec-Supplement;53(12 Suppl):S78-S84. doi: 10.31128/AJGP-10-23-6989.

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.

MeSH terms

  • Adult
  • Cystic Fibrosis* / diagnosis
  • Cystic Fibrosis* / genetics
  • Cystic Fibrosis* / psychology
  • Female
  • Fragile X Syndrome* / diagnosis
  • Fragile X Syndrome* / genetics
  • Fragile X Syndrome* / physiopathology
  • Fragile X Syndrome* / psychology
  • General Practitioners* / psychology
  • General Practitioners* / statistics & numerical data
  • Genetic Carrier Screening* / methods
  • Genetic Testing / methods
  • Genetic Testing / statistics & numerical data
  • Humans
  • Interviews as Topic / methods
  • Male
  • Middle Aged
  • Muscular Atrophy, Spinal* / diagnosis
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / physiopathology
  • Muscular Atrophy, Spinal* / psychology
  • Pregnancy
  • Qualitative Research
  • Victoria