Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

Shickh, Salma; Hirjikaka, Daena; Clausen, Marc; Kodida, Rita; Mighton, Chloe; Reble, Emma; Sam, Jordan; Panchal, Seema; Aronson, Melyssa; Graham, Tracy; Armel, Susan; Glogowski, Emily; Elser, Christine; Eisen, Andrea; Carroll, June C.; Shuman, Cheryl; Seto, Emily; Baxter, Nancy N.; Scheer, Adena; Shastri-Estrada, Serena; Feldman, Geoff; Thorpe, Kevin E.; Schrader, Kasmintan A.; Lerner‐Ellis, Jordan; Kim, Raymond H.; Faghfoury, Hanna; Bombard, Yvonne

doi:10.1136/bmjopen-2022-060899

Cited by 13 publications

(14 citation statements)

References 43 publications

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“…The study will deploy an interactive web-based decision support tool, called Genetics Adviser,36 as an adjunct to a genetic counselling appointment. The tool is an expanded version of the Genomics ADvISER, (a genomics decision AiD about Incidental SEquencing Results), which has been shown to effectively augment genetic counselling and improve patient knowledge and decisional confidence 30 37.…”

Section: Methods and Analysismentioning

confidence: 99%

“…The Genetics Adviser is a comprehensive, interactive, patient-centred platform aimed at providing lay language digital content to support informed decision-making, offer pre-genetic testing and post-genetic testing support, and facilitate return of results. The tool can be tailored for particular use cases as well as a range of clinical and population testing scenarios 36. For this protocol, the Genetics Adviser was customised to focus on pre-test counselling and education for AF with the support of genetic counselling in this process 38.…”

Section: Methods and Analysismentioning

confidence: 99%

“…The design and delivery of this study has been heavily informed by previous consumer focused studies,7 26 incorporating learnings from participant responses and feedback gathered in these studies. The study also uses Genetics Adviser, a decision support platform with extensive public input into design and development 30 36–38…”

Section: Methods and Analysismentioning

confidence: 99%

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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

et al. 2023

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IntroductionAs routine genomic testing expands, so too does the opportunity to look for additional health information unrelated to the original reason for testing, termed additional findings (AF). Analysis for many different types of AF may be available, particularly to families undergoing trio genomic testing. The optimal model for service delivery remains to be determined, especially when the original test occurs in the acute care setting.Methods and analysisFamilies enrolled in a national study providing ultrarapid genomic testing to critically ill children will be offered analysis for three types of AF on their stored genomic data: paediatric-onset conditions in the child, adult-onset conditions in each parent and reproductive carrier screening for the parents as a couple. The offer will be made 3–6 months after diagnostic testing. Parents will have access to a modified version of the Genetics Adviser web-based decision support tool before attending a genetic counselling appointment to discuss consent for AF. Parental experiences will be evaluated using qualitative and quantitative methods on data collected through surveys, appointment recordings and interviews at multiple time points. Evaluation will focus on parental preferences, uptake, decision support use and understanding of AF. Genetic health professionals’ perspectives on acceptability and feasibility of AF will also be captured through surveys and interviews.Ethics and disseminationThis project received ethics approval from the Melbourne Health Human Research Ethics Committee as part of the Australian Genomics Health Alliance protocol: HREC/16/MH/251. Findings will be disseminated through peer-review journal articles and at conferences nationally and internationally.

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Section: Methods and Analysismentioning

confidence: 99%

Section: Methods and Analysismentioning

confidence: 99%

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Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

et al. 2023

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“…A digital genomics platform was provided to participants before pre-test counseling ( www.geneticsadviser.com ) (Shickh et al 2022 ). A PowerPoint presentation was developed by the study GC for use during pre-test counseling webinars (Supplementary File 2).…”

Section: Methodsmentioning

confidence: 99%

Genome screening, reporting, and genetic counseling for healthy populations

et al. 2022

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Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. To incorporate genomic information into the practice of medicine, new processes for the analysis, reporting, and communication of GS data are needed. Blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N = 1500). GS was performed. Data were filtered and analyzed using custom pipelines and gene panels. We developed unique patient-facing materials, including an online intake survey, group counseling presentation, and consultation letters in addition to a comprehensive GS report. The final report includes results generated from GS data: (1) monogenic disease risks; (2) carrier status; (3) pharmacogenomic variants; (4) polygenic risk scores for common conditions; (5) HLA genotype; (6) genetic ancestry; (7) blood group; and, (8) COVID-19 viral lineage. Participants complete pre-test genetic counseling and confirm preferences for secondary findings before receiving results. Counseling and referrals are initiated for clinically significant findings. We developed a genetic counseling, reporting, and return of results framework that integrates GS information across multiple areas of human health, presenting possibilities for the clinical application of comprehensive GS data in healthy individuals. Supplementary Information The online version contains supplementary material available at 10.1007/s00439-022-02480-7.

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“…A digital genomics platform is provided to participants before pre-test counseling (www.geneticsadviser.com) (Shickh et al, 2022). A PowerPoint presentation was developed by the study GC for use during pre-test counseling webinars (Supplementary File 2).…”

Section: Genetic Counseling and Patient-facing Materialsmentioning

confidence: 99%

Genome Screening, Reporting and Counseling for Healthy Populations

Frangione¹,

Chung²,

MacDonald³

et al. 2022

Preprint

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Introduction: Rapid advancements of genome sequencing (GS) technologies have enhanced our understanding of the relationship between genes and human disease. In order to incorporate genomic information into the practice of medicine, new processes for the analysis, reporting and communication of GS data are needed. Methods: blood samples were collected from adults with a PCR-confirmed SARS-CoV-2 (COVID-19) diagnosis (target N=1500). GS was performed. Data was filtered and analyzed using custom pipelines and gene panels. We developed unique patient-facing materials, including an online intake survey, group counseling presentation, and consultation letters in addition to a comprehensive GS report. Results: The final report includes results generated from GS data: 1) Monogenic disease risks; 2) Carrier status; 3) Pharmacogenomic variants; 4) Polygenic risk scores for common conditions; 5) HLA genotype; 6) Genetic ancestry; 7) Blood group; and, 8) COVID-19 viral lineage. Participants complete pre-test genetic counseling and confirm preferences for secondary findings before receiving results. Counseling and referrals are initiated for clinically significant findings. Conclusion: We developed a genetic counseling, reporting, and return of results framework that integrates GS information across multiple areas of human health, presenting possibilities for the clinical application of comprehensive GS data in healthy individuals.

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Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

Cited by 13 publications

References 43 publications

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

Genome screening, reporting, and genetic counseling for healthy populations

Genome Screening, Reporting and Counseling for Healthy Populations

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