Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care

White, Stephanie; Jacobs, Chris; Phillips, Jane

doi:10.1038/s41436-020-0785-6

Cited by 91 publications

(67 citation statements)

References 89 publications

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“…Many barriers to effective implementation of genomics in nephrology and in other specialties have been described, 36 including physician knowledge gaps surrounding genetics. 37 Knowledge gaps among nephrologists surrounding assessment of patients with GKD, testing processes, patient consent, and counseling were also an important implementation challenge in our study.…”

Section: Discussionmentioning

confidence: 99%

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Jayasinghe

Stark

Kerr

et al. 2021

Genetics in Medicine

106

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To determine the diagnostic yield and clinical impact of exome sequencing (ES) in patients with suspected monogenic kidney disease. Methods: We performed clinically accredited singleton ES in a prospectively ascertained cohort of 204 patients assessed in multidisciplinary renal genetics clinics at four tertiary hospitals in Melbourne, Australia. Results: ES identified a molecular diagnosis in 80 (39%) patients, encompassing 35 distinct genetic disorders. Younger age at presentation was independently associated with an ES diagnosis (p < 0.001). Of those diagnosed, 31/80 (39%) had a change in their clinical diagnosis. ES diagnosis was considered to have contributed to management in 47/80 (59%), including negating the need for diagnostic renal biopsy in 10/80 (13%), changing surveillance in 35/ 80 (44%), and changing the treatment plan in 16/80 (20%). In cases with no change to management in the proband, the ES result had implications for the management of family members in 26/33 (79%). Cascade testing was subsequently offered to 40/80 families (50%). Conclusion: In this pragmatic pediatric and adult cohort with suspected monogenic kidney disease, ES had high diagnostic and clinical utility. Our findings, including predictors of positive diagnosis, can be used to guide clinical practice and health service design.

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Section: Discussionmentioning

confidence: 99%

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Jayasinghe

Stark

Kerr

et al. 2021

Genetics in Medicine

106

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“…Studies published on other medical specialists focus on clinician knowledge and beliefs, with little consideration to organizational constraints or other factors that influence clinician behaviour 31,33 . A major limitation emphasized by recent systematic reviews was that almost all reports failed to incorporate theoretical frameworks in their methodology 14,31,34 , thereby limiting comparison of findings between various studies and/or specialties. Comparison of our findings of 'readiness for implementation' and surveys of other specialties which adopted similar frameworks suggest that barriers and facilitators in implementing genomics may be similar across specialties 13,18 The importance of a multi-faceted approach to implementation has been highlighted extensively in the literature 33 .…”

Section: Discussionmentioning

confidence: 99%

“…These have facilitated large scale genomic testing in selected patient groups, including kidney disease There is a paucity of data surrounding nephrologists' practices relating to clinical genomic testing, with current evidence focussing on genetic predictors of chronic kidney disease (CKD) risk progression and pharmacogenomic testing in broad CKD populations, rather than those with suspected monogenic conditions 11,12 Furthermore, the readiness for implementation of genomics among the nephrology workforce is unknown. Studies of other specialists and primary care providers suggest that physicians feel underprepared to incorporate genomics in their clinical practice 13,14 .…”

Section: Introductionmentioning

confidence: 99%

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Jayasinghe

Quinlan

Mallett

et al. 2021

Kidney International Reports

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Introduction Genomic testing is becoming widely available as a diagnostic tool, although widespread implementation is not yet established in nephrology. Methods An anonymous electronic survey was administered to investigate experience and confidence with genomic tests, perceived clinical utility of genomic services, preferences for service delivery models, and readiness for implementation among nephrologists. Questions were guided by a comprehensive literature review and published tools, including a validated theoretical framework for implementation of genomic medicine: Consolidated Framework for Implementation Research (CFIR). Results Responses were received from 224 clinicians, of which 172 were eligible for analysis. Most clinicians (132 [76%]) had referred at least one patient to a genetics clinic. Despite most clinicians (136 [85%]) indicating that they believed genetic testing would be useful, only 39 (23%) indicated they felt confident to use results of genomic testing, with pediatric clinicians feeling more confident compared with adult clinicians (12 of 20 [60%] vs. 27 of 149 [18%]), P < 0.01, Fisher exact). A multidisciplinary renal genetics clinic was the preferred model among clinicians surveyed (98 of 172 [57%]). A key implementation barrier highlighted related to the hospital or organizational culture and/or environment. Specific barriers noted in quantitative and qualitative responses included inadequate staffing, learning resources, and funding. Conclusions Our findings suggest support for genomic testing among nephrologists, with a strong preference for a multidisciplinary model (involving a nephrologist, clinical geneticist, and genetic counselor). Broad-ranging interventions are urgently required to shift the current culture and ensure successful implementation of genomics in nephrology, including reducing knowledge gaps, increased funding and resources, disease-specific guidelines, and streamlining of testing processes.

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“…Barriers to mainstreaming exist among non-genetics health professionals from a range of specialities and include, a lack of genetics knowledge and skill, resources and guidelines, low confidence with genetics, and concerns about discrimination and psychological harm [11,12]. These barriers have led to suboptimal referral and identification of hereditary cancer [13,14] and reduce the potential for GT to inform cancer prevention through regular screening or preventative surgery [15][16][17].…”

Section: Introductionmentioning

confidence: 99%

Health system interventions to integrate genetic testing in routine oncology services: A systematic review

et al. 2021

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Background Integration of genetic testing into routine oncology care could improve access to testing. This systematic review investigated interventions and the tailored implementation strategies aimed at increasing access to genetic counselling and testing and identifying hereditary cancer in oncology. Methods The search strategy results were reported using the PRISMA statement and four electronic databases were searched. Eligible studies included routine genetic testing for breast and ovarian cancer or uptake after universal tumour screening for colorectal or endometrial cancer. The titles and abstracts were reviewed and the full text articles screened for eligibility. Data extraction was preformed using a designed template and study appraisal was assessed using an adapted Newcastle Ottawa Scale. Extracted data were mapped to Proctor’s et al outcomes and the Consolidated Framework for Implementation Research and qualitatively synthesised. Results Twenty-seven studies, published up to May 2020, met the inclusion criteria. Twenty-five studies ranged from poor (72%), fair to good (28%) quality. Most interventions identified were complex (multiple components) such as; patient or health professional education, interdisciplinary practice and a documentation or system change. Forty-eight percent of studies with complex interventions demonstrated on average a 35% increase in access to genetic counselling and a 15% increase in testing completion. Mapping of study outcomes showed that 70% and 32% of the studies aligned with either the service and client or the implementation level outcome and 96% to the process or inner setting domains of the Consolidated Framework for Implementation Research. Conclusion Existing evidence suggests that complex interventions have a potentially positive effect towards genetic counselling and testing completion rates in oncology services. Studies of sound methodological quality that explore a greater breadth of pre and post implementation outcomes and informed by theory are needed. Such research could inform future service delivery models for the integration of genetics into oncology services.

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Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care

Cited by 91 publications

References 89 publications

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Clinical impact of genomic testing in patients with suspected monogenic kidney disease

Attitudes and Practices of Australian Nephrologists Toward Implementation of Clinical Genomics

Health system interventions to integrate genetic testing in routine oncology services: A systematic review

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