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Record W4380422148 · doi:10.1002/mds.29442

International Genetic Testing and Counseling Practices for Parkinson's Disease

2023· article· en· W4380422148 on OpenAlexaff
Rachel Saunders‐Pullman, Deborah Raymond, Ali Shalash, Emilia Gatto, Mehri Salari, Maggie Markgraf, Roy N. Alcalay, Deborah Mascalzoni, Niccolò E. Mencacci, Vincenzo Bonifati, Marcelo Merello, Sun Ju Chung, Ivana Novaković, Soraya Bardien, Gian Pal, Anne Hall, Nobutaka Hattori, Timothy Lynch, Avner Thaler, Carolyn M. Sue, Tatiana Foroud, Jennifer Verbrugge, Jeanine Schulze, Lola Cook, Karen Marder, Oksana Suchowersky, Christine Klein, T. Simuni

Bibliographic record

VenueMovement Disorders · 2023
Typearticle
Languageen
FieldMedicine
TopicParkinson's Disease Mechanisms and Treatments
Canadian institutionsUniversity of Alberta HospitalUniversity of Alberta
FundersNational Institute of Neurological Disorders and StrokeNational Institutes of HealthDeutsche ForschungsgemeinschaftNational Research FoundationInternational Parkinson and Movement Disorder SocietyMedical Research CouncilSouth African Medical Research CouncilAligning Science Across Parkinson’sNew York State Department of HealthNational Health and Medical Research CouncilParkinson's FoundationMichael J. Fox Foundation for Parkinson's Research
KeywordsGenetic counselingGenetic testingDiseaseMedicineParkinson's diseaseDiversity (politics)Family medicinePolitical sciencePathologyGeneticsBiology

Abstract

fetched live from OpenAlex

BACKGROUND: There is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing. OBJECTIVES: The aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations. METHODS: A web-based survey assessing current practices, concerns, and barriers to genetic testing and counseling was administered to the International Parkinson and Movement Disorders Society membership. RESULTS: Common hurdles across sites included cost and access to genetic testing, and counseling, as well as education on genetic counseling. Region-dependent differences in access to and availability of testing and counseling were most notable in Africa. High-income countries also demonstrated heterogeneity, with European nations more likely to have genetic testing covered through insurance than Pan-American and Asian countries. CONCLUSIONS: This survey highlights not only diversity of barriers in different regions but also the shared and highly actionable needs for improved education and access to genetic counseling and testing for PD worldwide. © 2023 International Parkinson and Movement Disorder Society.

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 distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation 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 score0.226
Threshold uncertainty score0.468

Codex and Gemma teacher scores by category

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

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 head0.034
GPT teacher head0.308
Teacher spread0.274 · 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 teacher head, 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

Citations16
Published2023
Admission routes1
Has abstractyes

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