Australian Institute of Health Innovation, Macquarie University, Sydney, New South Wales, Australia.
Australian Genomics Health Alliance, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Prenat Diagn. 2021 May;41(6):708-719. doi: 10.1002/pd.5914. Epub 2021 Mar 5.
As interest in reproductive genetic carrier screening rises, with increased availability, the role of healthcare practitioners is central in guiding uptake aligned with a couples' values and beliefs. Therefore, practitioners' views on implementation are critical to the success of any reproductive genetic carrier screening programme.
To explore healthcare practitioners' perceptions of the barriers and enablers to implementation.
MATERIALS & METHODS: We undertook a systematic review of the literature searching seven databases using health practitioner, screening and implementation terms returning 490 articles.
Screening led to the inclusion of 26 articles for full-text review. We found three interconnected themes relating to reproductive genetic carrier screening: (i) use and impact, (ii) practitioners' beliefs and expectations and (iii) resources.
Barriers and enablers to implementation were present within each theme and grouping these determinants by (a) community for example lack of public interest, (b) practitioner for example lack of practitioner time and (c) organisation for example lack of effective metrics, reveals a preponderance of practitioner barriers and organisational enablers. Linking barriers with potential enablers leaves several barriers unresolved (e.g., costs for couples) implying additional interventions may be required.
Future research should draw on the findings from this study to develop and test strategies to facilitate appropriate offering of reproductive genetic carrier screening by healthcare practitioners.
随着对生殖遗传携带者筛查的兴趣日益浓厚，随着可用性的提高，医疗保健从业者在指导与夫妻价值观和信仰相一致的接受度方面发挥着核心作用。因此，从业者对实施的看法对于任何生殖遗传携带者筛查计划的成功都至关重要。
探讨医疗保健从业者对实施障碍和促进因素的看法。
我们对文献进行了系统综述，使用健康从业者、筛查和实施术语在七个数据库中进行了搜索，共返回 490 篇文章。
筛查纳入了 26 篇全文审查文章。我们发现与生殖遗传携带者筛查相关的三个相互关联的主题：（i）使用和影响，（ii）从业者的信念和期望，（iii）资源。
在每个主题和分组中都存在实施的障碍和促进因素（a）社区，例如公众兴趣不足，（b）从业者，例如从业者时间不足，（c）组织，例如缺乏有效的指标，这揭示了从业者障碍和组织促进因素的优势。将障碍与潜在的促进因素联系起来，仍然存在一些未解决的障碍（例如，对夫妇来说成本较高），这意味着可能需要采取额外的干预措施。
未来的研究应该借鉴本研究的结果，制定和测试策略，以促进医疗保健从业者适当提供生殖遗传携带者筛查。
