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

Abstract

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.

Outcomes of Importance to Patients in Reproductive Genetic Carrier Screening: A Qualitative Study to Inform a Core Outcome Set

“…Participants identified three key areas: cost and accessibility, awareness amongst primary care providers and the community regarding RGCS in the preconception setting, and broad social factors that present both practical and psychological challenges for patients (e.g., entrenched societal views of termination and stigmatisation). A recent systematic review exploring barriers and enablers from the practitioner perspective captured many of the same barriers identified in this study, highlighting a need for further research informed by implementation science and behaviour change theory to address them [ 38 ]. Recent commentaries from Australia [ 25 ], the US [ 39 ] and the Netherlands [ 40 ] all contribute to this growing recognition of the social context, barriers and challenges that are key to consider in the implementation of RGCS.…”

“…Those that had accessed termination of pregnancy perceived that a preconception offer could have spared them that experience and subsequent stigmatisation based on their reproductive decisions. A preference for patients to be offered RGCS preconception is prevalent across the literature on this topic [ 38 , 41 ], and will likely be a continued focus of research to address barriers and inform best practice as RGCS becomes widely implemented.…”

Correspondence on “Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG)” by Gregg et al

“…Workforce issues are acknowledged but remain a significant practical barrier to implementing this Resource. 12 RGCS should not be offered without appropriate pretest and post-test support. Some of the content proposed for inclusion in pretest counseling (such as discussing the prospect of identifying a VUS in the partner of a carrier) is too complex for a screening approach, especially if offered by nongenetics professionals.…”

Every mother and every fetus matters: A positive pregnancy test = multiple offerings of reproductive risk screening for personal, family, and specific obstetrical‐fetal conditions

“…An important clinical counseling consideration is that 70% of individuals will be "screen positive" for one or more genetic conditions and that 1 in every 40 couples will test positive for the same genetic condition using an expanded carrier screening platform. 26,99,100 Some personal considerations for early embryo-fetal identification, using the expanded genetic carrier screen, would include that some genetic conditions have improved childhood outcomes with early intervention, some carry a risk for childhood intellectual disability, and some will have limited or no treatment options for the fetus/child. [101][102][103] Direct to consumer medical testing for disease risk has created new questions, expectations, and concerns for the medical provider, who did not order the test or provide any risk-benefit counseling for patient/couple's informed consent.…”