Socioeconomic status and uptake of reproductive carrier screening in Australia

Abstract

Reproductive carrier screening (RCS) aims to provide information about the risk that children will be affected by a serious heritable condition. Advances in genetic technology have allowed carrier screening 'panels' to be developed to screen for multiple autosomal recessive and X-linked conditions. These panels provide information for asymptomatic people with no family history which enables them to make informed reproductive decisions. These multi-disorder RCS tests-most commonly for cystic fibrosis (CF), spinal muscular atrophy (SMA), and fragile X syndrome (FXS)have been available commercially in Australia since 2012. The combined affected pregnancy rate of these conditions is similar to the population chance of trisomy 21, emphasising the need to routinely offer carrier screening. 1 Although recent estimates suggest that the lifetime cost of care of a person with a recessive condition exceeds 1.5 million Australian dollars, this will increase since the cost of newly introduced therapeutics exceeds two million dollars per dose: 2 recent studies report that population-based pre-conception screening is cost-effective. 3 When children are affected by recessive conditions such as SMA, the primary carer typically is the child's mother. 4 This creates greater specialisation within the household, reducing maternal labour supply. 5 Family fragmentation and marital breakdown are more common among these households, further exacerbating hardship: 6 the unanticipated birth of a disabled child

Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review

“…2) aligning RGCS to organisation targets—this is challenging to address as take‐up rates do not directly equate to the successful provision of a RGCS programme 19 . and 3) a lack of practitioner confidence and interest—clinician education is clearly an essential first step to overcome these challenges though further interventions may be required for example, peer influence to overcome a lack of interest, 44 especially as this runs counter to the public interests 45 . By applying theoretical implementation science and behaviour change approaches, interventions can be designed to overcome these barriers 46 …”

Factors influencing medical practitioner participation in population carrier screening for cystic fibrosis

“…It is possible that screening practice and HPs’ knowledge has shifted since the questionnaires were distributed (between 2015 and 2017). However, recent Australian data demonstrate that it is still the case that only a small proportion of pregnant couples are offered carrier screening before or in early pregnancy, with only 1.36% of couples being tested 27 . While there is growing availability of expanded carrier screening in clinical practice, 32 HPs remain less likely to offer carrier screening in the absence of identified risk, such as at‐risk ethnic background or family history 33 .…”

Systematic review of outcomes in studies of reproductive genetic carrier screening: Towards development of a core outcome set

“…[53][54][55][56]80,89 Time points of measurement were also variable. A single time point was assessed by most studies (n = 41, 85%) and included audit data from databases between 1-30 years since screening (n = 34, 83%), 29,30,[32][33][34][35][36]38,40,42,[47][48][49]52,57,60,61,[63][64][65][67][68][69]73,74,78,81,[83][84][85][86][87][88]90,91,93 patient-reported outcomes at pre-test counselling after the decision to accept or decline was made (n = 3, 7%), 75,76,82 after maternal results but before partner results (n = 1, 2%), 39 and after results between 1-2 years since screening (n = 3, 7%). 46,51,…”

“…Intended or actual uptake was reported in 71% (n = 34) of studies. 30,[32][33][34][35][36][37][38][40][41][42]44,[48][49][50][51][52][53][55][56][57]60,61,63,65,[69][70][71][72]74,75,[77][78][79][80][84][85][86][87]89,93 The outcome domain of 'attitudes and perceptions', which includes outcomes that assess how attitudes or perceptions influence test uptake, was reported in 23% (n = 11) of studies. 37,44,54,55,62,71,72,76,80,…”