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

Stephanie Best*, Janet Long, Tahlia Theodorou, Sarah Hatem, Rebecca Lake, Alison Archibald, Lucinda Freeman, Jeffrey Braithwaite

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

2 Citations (Scopus)
14 Downloads (Pure)


Background: 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.

Aim: 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.

Results: 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.

Discussion: 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.

Conclusion: 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.

Original languageEnglish
Pages (from-to)708-719
Number of pages12
JournalPrenatal Diagnosis
Issue number6
Early online date2 Feb 2021
Publication statusPublished - May 2021

Bibliographical note

Copyright the Author(s) 2021. Version archived for private and non-commercial use with the permission of the author/s and according to publisher conditions. For further rights please contact the publisher.


  • Genetic counselling
  • Whole exome sequencing
  • fetal genetic analysis
  • Genomics
  • Delivery of health care
  • psychosocial
  • Legal
  • Ethical


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