Evidence map›Paper›PMID 34696975›Full record

ArticleParkinsonism & related disorders2021

The commercial genetic testing landscape for Parkinson's disease.

Lola Cook, Jeanine Schulze, Jennifer Verbrugge, James C Beck, Karen S Marder, Rachel Saunders-Pullman, Christine Klein, Anna Naito, Roy N Alcalay, ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease and 2 more

Open access · hybridAbstract readEvaluation Study
In one paragraph

Article in Parkinsonism & related disorders, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed, 1 pooled it
2.5field-weighted citation impact, top 9% of its field
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

16 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.

  1. Rethinking 'rare'Journal of Parkinson's disease · 2025
    Pooled it
  2. Article
  3. Unravelling the novel insights between miR-7 and Parkinson's disease (PD).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  4. A PLAN to address the Parkinson pandemic.Journal of Parkinson's disease · 2025
    Review
  5. Review
  6. Article
  7. Article
  8. Genetic mutations in Parkinson's disease: screening of a selected population from North-Eastern Italy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  9. Observational
  10. Article
  11. Genetic Testing in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  12. International Genetic Testing and Counseling Practices for Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  13. Review
  14. Article
  15. Article
  16. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors at 20 institutions in 16 countries.

Lola CookDepartment of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA. Electronic address: lpcook@iu.edu.
Jeanine SchulzeDepartment of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA.
Jennifer VerbruggeDepartment of Medical and Molecular Genetics (LC, JS, TF), Indiana University School of Medicine, Indianapolis, USA.
James C BeckParkinson's Foundation, NY, NY, USA.
Karen S MarderDepartment of Neurology, Columbia University College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
Rachel Saunders-PullmanDepartment of Neurology, Mount Sinai Beth Israel, New York, NY, USA.
Christine KleinInstitute of Neurogenetics, University of Luebeck, Luebeck, Germany.
Anna NaitoParkinson's Foundation, NY, NY, USA.
Roy N AlcalayDepartment of Neurology, Columbia University College of Physicians and Surgeons, Columbia University Medical Center, New York, NY, USA.
ClinGen Parkinson's Disease Gene Curation Expert Panel and the MDS Task Force for Recommendations for Genetic Testing in Parkinson's Disease
Clinical Genome Resource (ClinGen) Parkinson's Disease Gene Curation Expert Panel Authors
Movement Society Disorder (MDS) Task Force on Recommendations for Clinical Genetic Testing in Parkinson's Disease Authors
Indiana University School of MedicineUniversity of Lübeck · DEColumbia University Irving Medical Center · USParkinson's Foundation · USMount Sinai Beth Israel · USInstitut du Cerveau · FRMontreal Neurological Institute and Hospital · CANational Institute on Aging · USNorthwestern University · USBaylor College of Medicine · USMichael J. Fox Foundation · USUniversity of Dundee · GBUniversity of North Carolina at Chapel Hill · USUniversity of Pennsylvania · USAin Shams University · EGBiogen (United States) · USCleveland Clinic · USDuke University · USErasmus MC · NLEurac Research · IT

Funding

Clinical and Translational Science AwardUL1TR001873 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI REILLY, MUREDACH P · 2016 to 2025
$99.0M
The Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0M
Dissecting Oligogenic Biomarkers in Ashkenazi Jews with Parkinson DiseaseU01NS107016 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI OZELIUS, LAURIE J., SAUNDERS-PULLMAN, RACHEL · 2019 to 2023
$6.6M
Targeting Lewy Body Specific Pathology Using BiomarkersU01NS100600 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HONIG, LAWRENCE S, MARDER, KAREN S · 2016 to 2020
$4.5M
Center for Research on Ethical, Legal & Social Implications of Psychiatric, Neurologic & Behavioral GeneticsRM1HG007257 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI APPELBAUM, PAUL STUART · 2018 to 2021
$4.4M
Clinical Research Sites for the Network of Excellence in Neuroscience Clinical Trials (NeuroNEXT sites) (U24 Clinical Trial Not Allowed)U24NS107168 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLAUDIA CHIRIBOGA, Karen S Marder · 2018 to 2026
$3.4M
Chief Scientist Office SCAF/18/01NCATS NIH HHS UL1 TR001873NHGRI NIH HHS RM1 HG007257NHGRI NIH HHS U24 HG009650NINDS NIH HHS U01 NS100600NINDS NIH HHS U01 NS107016NINDS NIH HHS U24 NS107168
6 · The paper itself

Abstract

introductionThere have been no specific guidelines regarding which genes should be tested in the clinical setting for Parkinson's disease (PD) or parkinsonism. We evaluated the types of clinical genetic testing offered for PD as the first step of our gene curation.

methodsThe National Institutes of Health (NIH) Genetic Testing Registry (GTR) was queried on 12/7/2020 to identify current commercial PD genetic test offerings by clinical laboratories, internationally.

resultsWe identified 502 unique clinical genetic tests for PD, from 28 Clinical Laboratory Improvement Amendments (CLIA)-approved clinical laboratories. These included 11 diagnostic PD panels. The panels were notable for their differences in size, ranging from 5 to 62 genes. Five genes for variant query were included in all panels (SNCA, PRKN, PINK-1, PARK7 (DJ1), and LRRK2). Notably, the addition of the VPS35 and GBA genes was variable. Panel size differences stemmed from inclusion of genes linked to atypical parkinsonism and dystonia disorders, and genes in which the link to PD causation is controversial.

conclusionThere is an urgent need for expert opinion regarding which genes should be included in a commercial laboratory multi-gene panel for PD.

Indexed as

Genetic Predisposition to DiseaseGenetic TestingHumansLaboratories, ClinicalParkinson DiseaseClinical laboratoriesGenetic testingMulti-gene panelsParkinson's disease

Identifiers

PMID34696975
PMCPMC8633166
OpenAlexW3206271349

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.