Goldman Chaya M, Lewis Sharon, Massie John, Kirk Edwin P, Symons Allison, Delatycki Martin B
Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
J Genet Couns. 2025 Aug;34(4):e70100. doi: 10.1002/jgc4.70100.
Reproductive genetic carrier screening (RGCS) allows screening for hundreds of autosomal recessive and X-linked conditions. Multiple clinical professional bodies recommend that RGCS be offered to all prospective parents. There is some research into attitudes to targeted carrier screening for conditions common in specific populations. However, the attitudes of the public to RGCS for many conditions have not been extensively studied in Australia. The aim of this study was to investigate the views of adults without a personal or familial history of a genetic condition on the inclusion of conditions with varying clinical characteristics in RGCS panels. In 15 semi-structured telephone interviews, participants of reproductive age recruited from an obstetric ultrasound clinic and with convenience sampling in Melbourne, Australia, were presented with descriptions of seven groups of conditions with a range of severities. Participants were asked their views on whether the condition should be included in RGCS and whether they would choose to undertake screening for the condition. Data was co-coded by at least two members of the research team and analyzed with quantitative content analysis and qualitative inductive content analysis. Most participants support the inclusion of a wide range of conditions on screening panels. The perceived severity of the conditions presented to prospective parents influenced their reproductive decision-making. Even if they would not alter their reproductive choices based on a high-risk result, this largely did not influence their views regarding the full range of conditions they believe should be included in carrier screening panels. Participants saw value in the choice and knowledge provided by RGCS panels. Reasons for excluding certain types of conditions included a perceived mild impact on quality of life and concern over societal impacts from broad screening. This study indicates that prospective parents want a tiered approach to RGCS and the ability to choose the severity of conditions included in screening.
生殖遗传携带者筛查（RGCS）可对数百种常染色体隐性和X连锁疾病进行筛查。多个临床专业机构建议，应为所有准父母提供RGCS筛查。针对特定人群中常见疾病的靶向携带者筛查的态度已有一些研究。然而，在澳大利亚，公众对许多疾病的RGCS筛查态度尚未得到广泛研究。本研究的目的是调查没有个人或家族遗传病史的成年人对于将具有不同临床特征的疾病纳入RGCS筛查项目的看法。在15次半结构化电话访谈中，从澳大利亚墨尔本一家产科超声诊所招募的育龄参与者通过便利抽样法选取，向他们介绍了七组不同严重程度疾病的描述。参与者被问及他们对于该疾病是否应纳入RGCS筛查以及是否会选择进行该疾病筛查的看法。数据由至少两名研究团队成员共同编码，并采用定量内容分析和定性归纳内容分析进行分析。大多数参与者支持在筛查项目中纳入多种疾病。向准父母展示的疾病的感知严重程度影响了他们的生育决策。即使他们不会基于高风险结果改变生育选择，但这在很大程度上并未影响他们对于他们认为应纳入携带者筛查项目的所有疾病的看法。参与者认为RGCS筛查项目提供的选择和知识具有价值。排除某些类型疾病的原因包括认为对生活质量影响轻微以及担心广泛筛查对社会的影响。本研究表明，准父母希望采用分层方法进行RGCS筛查，并能够选择筛查中所包含疾病的严重程度。
