The design, implementation, and effectiveness of intervention strategies aimed at improving genetic referral practices: a systematic review of the literature

Abstract

Purpose Despite rapid advancements in genetics and genomics, referral practices remain suboptimal. This systematic review assesses the extent to which approaches from implementation science have been applied to address suboptimal genetic referral practices. Methods A search of MEDLINE, EMBASE, and PsycINFO generated 7,794 articles, of which 28 were included. Lay barriers were mapped to the Theoretical Domains Framework (TDF) and interventions mapped to behavior change techniques. Use of implementation and behavior change frameworks was assessed, and the Theory and Techniques Tool used to determine theoretical alignment. Results Knowledge was the most frequent retrospectively TDF-coded barrier, followed by environmental context and resources, and skills. Significant referral improvements occurred in 56% of studies. Among these, the most frequent interventions were clinical data review systems, family history collection and referral tools, and embedding genetics staff into nongenetic specialties. Few studies used implementation frameworks or reported implementation outcomes, though some deployed intuitive strategies that aligned with theory. Conclusion Genetic referral interventions are rarely informed by implementation and/or behavior change theories, limiting opportunities for learning across contexts. Retrospective coding has provided a suite of theoretically linked strategies, which may be useful for informing future efforts. Incorporating these strategies into clinical guidelines may facilitate operationalization within the system.

Genética em Medicina e Enfermagem: percepções de profissionais de saúde envolvidos com o processo ensino-aprendizagem

“…Dada raridade de várias doenças genéticas, muitos profissionais de saúde aprenderam pouco sobre o assunto em sua formação e, portanto, têm dificuldade para suspeitar de uma doença genética rara 44 . Mesmo no cenário internacional, o encaminhamento para especialistas em genética está abaixo do ideal, e são apontadas como possíveis barreiras a falta de conhecimento sobre o tema e/ou a inexistência de protocolos de referência 16 .…”

“…Coletar história familiar completa é uma das habilidades desejáveis a todos os profissionais de saúde 4,12,46 . A inadequada coleta e documentação da história familiar tem sido apontada como um dos obstáculos para o encaminhamento ao especialista em genética 16 . Esse cenário pode levar a perdas de oportunidade de diagnóstico precoce, prevenção e/ou tratamento de condições genéticas.…”

“…Dados nacionais sugerem que a maioria dos profissionais de saúde não especialistas em genética tem algum conhecimento básico sobre o assunto, o que não garante competência para fornecer informação e orientação adequadas sobre doenças genéticas [13][14][15] . Estudos internacionais sugerem que médicos não especialistas em genética não apresentam conhecimento suficiente sobre genética e testes genéticos, além de faltar-lhes habilidades para comunicação sobre informações genéticas 16 . Para garantir formação qualificada em genética, as escolas médicas e de enfermagem precisam de currículos estruturados que contemplem conhecimentos e habilidades na área 6 .…”

Assessing the acceptability, feasibility, and usefulness of a psychosocial screening tool to patients and clinicians in a clinical genetics service in Australia

“…In other intervention implementation research in clinical genetics, acceptability has not been commonly examined or reported, with more studies focusing on patient centeredness or uptake (Roberts et al., 2017). In general, utilization of implementation theories and frameworks, including taxonomies of outcomes, is underutilized in the context of translational research in clinical genetics (Morrow et al., 2021; Paul et al., 2018; Roberts et al., 2017). This paucity of data makes it difficult to contextualize this subgroup finding and reinforces the need for more theory‐ or framework‐driven research to better understand how interventions impact different patients and what determinants influence patient, service, and implementation outcomes (Davidoff et al., 2015).…”

Implementation Strategies to Address Suboptimal Genetic Referral Practices

“…Studies concerning barriers to genetic referral practices have examined both patient and practitioner factors. Now, a systematic review has examined approaches from the field of implementation science and how they have been applied to address suboptimal referral practices in the genetic setting (Morrow et al, 2021). The study results show that genetic referral interventions are rarely informed by implementation and/or behavior change theories and highlight the variable success of intervention efforts to improve genetic referral.…”