MétaCan
Menu
Back to cohort
Record W4406277663 · doi:10.1016/j.gim.2025.101354

The impact of genetic counselor involvement in genetic and genomic test order review: A scoping review

2025· review· en· W4406277663 on OpenAlexafffund
Courtney B. Cook, Carly A. Pistawka, Alison M. Elliott, Jehannine Austin, Bartha Maria Knoppers, Larry D. Lynd, Alivia Dey, Shelin Adam, Nick Bansback, Patricia Birch, L. Clarke, Nick Dragojlovic, Jan M. Friedman, Daryl Pullman, Alice Virani, Wyeth W. Wasserman, Ma’n H. Zawati

Bibliographic record

VenueGenetics in Medicine · 2025
Typereview
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsBC Children's HospitalWomen's Health Research InstituteUniversity of British Columbia
FundersGenome British ColumbiaProvincial Health Services AuthorityBC Children's HospitalChildren's Hospital FoundationCanadian Institutes of Health ResearchGenome Canada
KeywordsTest (biology)Genetic testingGenetic counselingBiologyGeneticsMedicineComputational biologyPsychology

Abstract

fetched live from OpenAlex

PURPOSE: The increasing complexity of genetic technologies paired with more genetic tests being ordered by nongenetic health care providers, has resulted in an increase in the number of inappropriately ordered tests. Genetic counselors (GCs) are ideally suited to assess the appropriateness of a genetic test. METHODS: We performed a scoping review of GC involvement in utilization management initiatives in order to describe the impact of having GCs involved in this process. Five databases (MEDLINE, EMBASE, CINHAL, EBM reviews, and Web of Science Core Collection) and gray literature were searched. We considered literature published in English since 2010. RESULTS: A total of 51 studies were included. The most commonly evaluated outcomes included cancellation rate, economic efficiencies, impact on medical management, diagnostic rate, and time or triage efficiencies. Several studies also described GC impact on nongenetic health care providers. CONCLUSION: Employment of GCs in the laboratory has been implemented widely as a solution to test misordering. These studies describe ways in which GCs can be integrated into testing workflows to reduce the number of inappropriate tests and have wider impacts on nongenetic health care providers' ordering practices and the patient experience.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

How this classification was reachedexpand

Full frame machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.004
metaresearch head score (Gemma)0.014
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Systematic review · Consensus signal: none
GenreCandidate signal: Review · Consensus signal: Review
Teacher disagreement score0.006
Threshold uncertainty score0.019

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0040.014
Meta-epidemiology (narrow)0.0010.000
Meta-epidemiology (broad)0.0030.002
Bibliometrics0.0050.005
Science and technology studies0.0000.001
Scholarly communication0.0020.002
Open science0.0010.001
Research integrity0.0020.002
Insufficient payload (model declined to judge)0.0060.001

Machine scores (provisional)

The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.031
GPT teacher head0.395
Teacher spread0.364 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designSystematic review
Domainnot available
GenreReview

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations4
Published2025
Admission routes2
Has abstractno

Explore more

Same venueGenetics in MedicineSame topicBRCA gene mutations in cancerFrench-language works237,207