ArticleGenetics in medicine open2024
Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.
Article in Genetics in medicine open, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed.
- Impact of a digital platform on genetic counselling encounters in the screening context.European journal of human genetics : EJHG · 2026Article
- Parental experiences of receiving genomic newborn screening results: findings from the BabyScreen+ study.European journal of human genetics : EJHG · 2026Article
- Supporting decisions about genomic newborn screening at scale in the digital age: the BabyScreen+ study.NPJ genomic medicine · 2026Article
- Findings from comprehensive genome sequencing in the Canadian population: Results from the GENCOV Study.Genetics in medicine open · 2026Article
- Genetic counselors' perspectives and experiences with workplace genetic testing: Results of a national survey.Genetics in medicine open · 2026Article
- Feasibility, acceptability and clinical outcomes of the BabyScreen+ genomic newborn screening study.Nature medicine · 2025Article
- Symposium report-ethical and social considerations regarding return of secondary findings in atomic bomb survivors.Carcinogenesis · 2025Article
- Genomic Screening Consortium for Australian Newborns (GenSCAN).Journal of paediatrics and child health · 2025Review
- Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening.NPJ digital medicine · 2025Article
Corrections and comments
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Authors and funding
29 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing. Methods: We developed the digital application through user-centered design, guided by an advisory board. We tested its usability and acceptability with patients, practitioners, and members of the general public using mixed methods; data were analyzed using qualitative description and descriptive statistics. Results: The "Genetics Adviser" delivers pre-test education, counseling, and post-test return of results adaptable to any population, test platform, and setting. Usability testing with 25 patients, the general public, and genetics practitioners (15/25 female; mean age range 40-49 years) demonstrated enthusiasm about the application; users found it easy to navigate and comprehend. Acceptance testing with 19 patients and the public (13/19 female; mean age range 40-49 years) indicated high acceptability of the application and moderate knowledge of genomic sequencing after use. Conclusion: The Genetics Adviser is a comprehensive, interactive, patient-centered application found to have high acceptability and usability for pre- and post-test genomic testing, counseling, and return of results adaptable for multiple testing platforms, populations, and settings.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.