Evidence map›Paper›PMID 40447700›Full record

ArticleEuropean journal of human genetics : EJHG2025

The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services.

Saumeh Saeedi, Daena Hirjikaka, Marc Clausen, Stephanie Luca, Emma Reble, Rita Kodida, Daniel Assamad, Lauren Chad, Gregory Costain, Hanna Faghfoury and 6 more

Erratum issuedAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

2 citing papers in PubMed.

  1. Review
  2. What's new in EJHG this autumn.European journal of human genetics : EJHG · 2025
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors.

Saumeh SaeediGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.ORCID 0000-0002-3674-7478
Daena HirjikakaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Marc ClausenGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Stephanie LucaChild Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0002-1057-1013
Emma RebleGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Rita KodidaGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Daniel AssamadGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada.
Lauren ChadDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Gregory CostainDivision of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.
Hanna FaghfouryFred A. Litwin Family Centre in Genetic Medicine, University Health Network and Sinai Health System, Toronto, ON, Canada.
Josh SilverDepartment of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
Serena Shastri-EstradaGenetics Navigator Advisory Board, Toronto, ON, Canada.
Maureen SmithPatient Partner, Canadian Organization for Rare Disorders, Toronto, ON, Canada.
Robin Z HayeemsChild Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON, Canada.ORCID 0000-0003-3269-8004
Yvonne BombardGenomics Health Services Research Program, Li Ka Shing Knowledge Institute, St. Michael's Hospital, Unity Health Toronto, Toronto, ON, Canada. yvonne.bombard@utoronto.ca.ORCID 0000-0002-9516-4539
Genetics Navigator Study Team

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clinical genetic services address diverse genetic testing needs, but there is no comprehensive digital solution to meet this variety. We aimed to develop and test the usability of the Genetics Navigator (GN), a platform designed to enhance genetic services for paediatric and adult patients. The GN prototype was created with input from a patient and clinician advisory board, informed by prior research. Usability testing involved genetics patients (N = 14), parents of paediatric patients (N = 4), and the general public (N = 10). Participants provided feedback using the 'think aloud' method when using the platform. We used the System Usability Scale (SUS) for quantitative evaluation. Qualitative data were coded by platform section, item, and identified key areas for improvement. Building on the Genetics Adviser platform, we added video and written content for various genetic conditions and patient groups, including pre-test education, counselling, decision support, history collection, post-test result disclosure, and management. Key feedback during rounds of usability testing emphasized the need for a supportive design, seamless workflow, and engaging experience of the tool. The tool was modified to reflect the feedback, and the GN achieved an average SUS score of 87.7 ± 10.9 (N = 28), indicating above-average usability. Future research will evaluate its clinical and cost-effectiveness in a randomized trial.

Indexed as

Genetic ServicesGenetic TestingAdultChildFemaleGenetic CounselingHumansMale

Identifiers

PMID40447700
PMCPMC12402289

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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 Socratic graph.