Leibowitz Ruth, Lewis Sharon, Emery Jon, Massie John, Smith Melanie, Delatycki Martin, Archibald Alison
Department of General Practice, University of Melbourne, Melbourne, Vic., Australia.
Department of Paediatrics, Melbourne Medical School, Royal Children's Hospital, Parkville, Vic., Australia; and Murdoch Children's Research Institute, Parkville, Vic., Australia.
Aust J Prim Health. 2022 Dec;28(6):580-587. doi: 10.1071/PY21247.
The Royal Australian and New Zealand College of Obstetricians and Gynaecologists and The Royal Australian College of General Practice recommend that information on carrier screening for at least the most common inherited genetic conditions in our population, that is, thalassaemia, cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS), should be offered to all women planning pregnancy or in early pregnancy regardless of family history or ethnicity. The aim of this study was to investigate patterns of participation by healthcare providers (HCP) and the community in screening.
Participation in a Victorian program screening for CF, SMA and FXS between September 2013 and October 2018 was analysed. Requesting HCP and patient data were extracted from screening request forms. Data were analysed with respect to profession of requesting HCP, and characteristics of women screened (age, pregnancy status, socioeconomic status, geographic location, and family history of CF, SMA or FXS). In total, 21 172 women and 1288 HCPs participated in the program over this period.
There was a steep socioeconomic gradient in screening uptake, with nearly half the women screened (10 349) being in the highest socioeconomic quintile. The screening rate was much higher in metropolitan areas than in regional areas. Obstetricians made most of the requests for screening, whereas 20% of requests were by GPs. Most participating GPs only made a single screening request (78%) and very few GPs made >100 screening requests compared with obstetricians (0.2% vs 17%). GPs were more likely to screen women before pregnancy compared with obstetricians (47% vs 11%). Approximately 1.5% of Victorian women of child-bearing age and 3% of pregnant Victorian women were screened by this program over the period of this study.
This study highlights the translation gap between recommendations and practice, with marked inequity of access to reproductive genetic carrier screening in relation to socioeconomic status and geography. Increased participation by GPs could improve community access to reproductive genetic carrier screening, particularly access to preconception screening. Addressing the causes of inequity of access will allow more women and couples the opportunity to make informed choices about participation in screening.
澳大利亚和新西兰皇家妇产科医师学院以及澳大利亚皇家全科医师学院建议，应向所有计划怀孕或处于孕早期的女性提供关于至少我国人群中最常见的遗传性疾病（即地中海贫血、囊性纤维化（CF）、脊髓性肌萎缩症（SMA）和脆性X综合征（FXS））携带者筛查的信息，无论其家族史或种族如何。本研究的目的是调查医疗服务提供者（HCP）和社区参与筛查的模式。
分析了2013年9月至2018年10月期间参与维多利亚州CF、SMA和FXS筛查项目的情况。从筛查申请表中提取申请HCP和患者的数据。根据申请HCP的职业以及接受筛查女性的特征（年龄、妊娠状态、社会经济地位、地理位置以及CF、SMA或FXS的家族史）对数据进行分析。在此期间，共有21172名女性和1288名HCP参与了该项目。
筛查接受率存在明显的社会经济梯度差异，近一半接受筛查的女性（10349名）处于社会经济最高五分位。大都市地区的筛查率远高于地区。产科医生提出的筛查请求最多，而20%的请求由全科医生提出。大多数参与的全科医生仅提出一次筛查请求（78%），与产科医生相比，很少有全科医生提出超过100次筛查请求（0.2%对17%）。与产科医生相比，全科医生更有可能在女性怀孕前进行筛查（47%对11%）。在本研究期间，该项目筛查了约1.5%的维多利亚州育龄女性和3%的怀孕维多利亚州女性。
本研究凸显了建议与实践之间的转化差距，在社会经济地位和地理位置方面，获得生殖遗传携带者筛查的机会存在明显不平等。全科医生参与度的提高可以改善社区获得生殖遗传携带者筛查的机会，特别是孕前筛查的机会。解决获得机会不平等的原因将使更多女性和夫妇有机会就参与筛查做出明智选择。
