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Record W4412766962 · doi:10.1101/2025.07.29.25332392

Change in movement disorder specialist attitudes to genetic testing after implementation of PD GENEration

2025· preprint· en· W4412766962 on OpenAlexaboutno aff
Jesse Wang, Vanessa Ibrahim, Roy N. Alcalay, Julian Agin‐Liebes, Martha Nance, James C. Beck, Margaret E. Caulfield, Anna Naito, Kamalini Ghosh Galvelis, Anne‐Marie Wills

Bibliographic record

VenuemedRxiv · 2025
Typepreprint
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicBRCA gene mutations in cancer
Canadian institutionsnot available
FundersParkinson Study Group
KeywordsMovement (music)Genetic testingPsychologyMedicinePhysical medicine and rehabilitationInternal medicineArtAesthetics

Abstract

fetched live from OpenAlex

Purpose: Despite advances in recent years, genetic testing for Parkinson disease (PD) is still underutilized in clinical practice. A 2019 questionnaire of movement disorder specialists found low rates of genetic testing in PD and barriers such as cost and insurance coverage. Since that time, PD GENEration, as well as several international programs, have broadly increased access to genetic testing and counseling for people with PD. A repeat survey sent out in 2024 examined how attitudes to genetic testing for PD in clinical practice have changed over the past 5 years. Methods: Between October 2024-January 2025, 621 movement disorders specialists from the Parkinson's Study Group (PSG) were invited by email to complete a questionnaire assessing knowledge, attitudes, and barriers to genetic testing in PD based on the 2019 survey. Results: In total, 119 PSG clinicians from the United States and Canada responded to the questionnaire. When compared with results from 2019, in 2024 both PD GENEration-affiliated and nonaffilated survey respondents reported fewer barriers to genetic testing both at the clinician and patient level. Conclusion: 2024 survey respondents report greater comfort with ordering and returning genetic test results compared with 2019, concurrent with the launch of PD GENEration, ROPAD, and GP2.

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)0.003
metaresearch head score (Gemma)0.018
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.024
Threshold uncertainty score0.047

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0030.018
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0000.001
Research integrity0.0010.001
Insufficient payload (model declined to judge)0.0040.000

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 head0.041
GPT teacher head0.351
Teacher spread0.310 · 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 designObservational
Domainnot available
GenreEmpirical

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

Citations0
Published2025
Admission routes1
Has abstractyes

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