Structured approaches to implementation of clinical genomics: A scoping review

Brown, Helen; Sherburn, Isabella A.; Gaff, Clara; Taylor, Natalie; Best, Stephanie

doi:10.1016/j.gim.2022.03.017

Cited by 6 publications

(5 citation statements)

References 42 publications

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“…Medical genetics encompasses many different areas, and it is becoming increasingly relevant to the diagnosis of many common and rare genetic diseases. The particularity of some genetic diseases underlines the value of adequate clinical experience; moreover, it emphasizes how a multidisciplinary approach is essential in managing and taking care of patients [1,2]. Each patient undergoes a diagnostic evaluation tailored to their clinical signs and symptoms, generating a differential diagnosis and using appropriate genetic tests to provide an accurate diagnosis [3].…”

Section: Introductionmentioning

confidence: 99%

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Capra

Rosa²,

Briguori³

et al. 2023

Genes

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Technological advancements in molecular genetics and cytogenetics have led to the diagnostic definition of complex or atypical clinical pictures. In this paper, a genetic analysis identifies multimorbidities, one due to either a copy number variant or a chromosome aneuploidy, and a second due to biallelic sequence variants in a gene associated with an autosomal recessive disorder. We diagnosed the simultaneous presence of these conditions, which co-occurred by chance, in three unrelated patients: a 10q11.22q11.23 microduplication and a homozygous variant, c.3470A>G (p.Tyr1157Cys), in the WDR19 gene associated with autosomal recessive ciliopathy; down syndrome and two variants, c.850G>A; p.(Gly284Arg) and c.5374G>T; p.(Glu1792*), in the LAMA2 gene associated with merosin-deficient congenital muscular dystrophy type 1A (MDC1A); and a de novo 16p11.2 microdeletion syndrome and homozygous variant, c.2828G>A (p.Arg943Gln), in the ABCA4 gene associated with Stargardt disease 1 (STGD1). The possibility of being affected by two relatively common or rare inherited genetic conditions would be suspected when signs and symptoms are incoherent with the primary diagnosis. All this could have important implications for improving genetic counseling, determining the correct prognosis, and, consequently, organizing the best long-term follow-up.

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Section: Introductionmentioning

confidence: 99%

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Capra

Rosa²,

Briguori³

et al. 2023

Genes

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“…Notwithstanding international interest, the reality of implementing population RGCS programs using structured implementation approaches is not well investigated. Although not commonplace in genomic medicine 11 , implementation science frameworks, when used, offer an understanding and explanation of how and why implementation efforts succeed or not 12 . By investigating factors influencing implementation across the implementation timeline and different contexts, frameworks can augment learnings, standardise terminology, and improve scaling-up and mainstreaming of services 13 .…”

Section: Introductionmentioning

confidence: 99%

Scaling-up and future sustainability of a national reproductive genetic carrier screening program

et al. 2023

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An understanding of factors influencing implementation is essential to realise the benefits of population-based reproductive genetic carrier screening programs. The aim of this study was to synthesise data collected during the Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) to track how priorities shifted over time and identify important factors during scaling-up and for sustainment. We used a multi-method qualitative approach to integrate longitudinal project data collected from 10 project committees with 16 semi-structured interviews conducted with study team members. Both datasets were analysed using the Consolidated Framework for Implementation Research (CFIR) to identify constructs of interest within early, mid-point, and future implementation phases. Several CFIR constructs were present across implementation. The complexity of implementation presented challenges that were overcome through a quality-designed and packaged product, formal and informal networks and communication, and access to knowledge and information. Addressing the diverse consumer needs through resources and increasing community and non-genetic speciality engagement remained a priority throughout and for future sustainment. Going forward, further addressing program complexities and securing funding were emphasised. By applying an implementation framework, findings from this study may be useful for future effort towards building and/or sustaining reproductive genetic carrier screening programs.

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“…The strategies, processes, and frameworks that facilitate translating innovative health technologies from research to clinical practice are plentiful and have evolved from a core focus on clinical safety, effectiveness, and cost to include ethics [7], equity, patient, and public involvement [8], deliberative processes [9], and implementation science. The frameworks that reflect these dimensions are increasingly tailored to precision health [10,11], but the majority do not sufficiently attend to specific populations such as children. As such, current frameworks fail to incorporate the unique physiology and socio-biology of childhood health and illness, compromising their usability for children and potentially jeopardizing the impact that novel discoveries can have on pediatric medicine.…”

Section: Introductionmentioning

confidence: 99%

Translating Precision Health for Pediatrics: A Scoping Review

et al. 2023

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Precision health aims to personalize treatment and prevention strategies based on individual genetic differences. While it has significantly improved healthcare for specific patient groups, broader translation faces challenges with evidence development, evidence appraisal, and implementation. These challenges are compounded in child health as existing methods fail to incorporate the physiology and socio-biology unique to childhood. This scoping review synthesizes the existing literature on evidence development, appraisal, prioritization, and implementation of precision child health. PubMed, Scopus, Web of Science, and Embase were searched. The included articles were related to pediatrics, precision health, and the translational pathway. Articles were excluded if they were too narrow in scope. In total, 74 articles identified challenges and solutions for putting pediatric precision health interventions into practice. The literature reinforced the unique attributes of children and their implications for study design and identified major themes for the value assessment of precision health interventions for children, including clinical benefit, cost-effectiveness, stakeholder values and preferences, and ethics and equity. Tackling these identified challenges will require developing international data networks and guidelines, re-thinking methods for value assessment, and broadening stakeholder support for the effective implementation of precision health within healthcare organizations. This research was funded by the SickKids Precision Child Health Catalyst Grant.

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Structured approaches to implementation of clinical genomics: A scoping review

Cited by 6 publications

References 42 publications

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Coexistence of Genetic Diseases Is a New Clinical Challenge: Three Unrelated Cases of Dual Diagnosis

Scaling-up and future sustainability of a national reproductive genetic carrier screening program

Translating Precision Health for Pediatrics: A Scoping Review

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