Evidence map›Paper›PMID 37310233›Full record

ArticleMovement disorders : official journal of the Movement Disorder Society2023

International Genetic Testing and Counseling Practices for Parkinson's Disease.

Rachel Saunders-Pullman, Deborah Raymond, Roberto A Ortega, Ali Shalash, Emilia Gatto, Mehri Salari, Maggie Markgraf, Roy N Alcalay, Deborah Mascalzoni, Niccolò E Mencacci and 19 more

Open access · hybridAbstract read
In one paragraph

Article in Movement disorders : official journal of the Movement Disorder Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.2field-weighted citation impact, top 13% 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

8 citing papers in PubMed, 14 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Consensus Guidance for Genetic Counseling in GBA1 Variants: A Focus on Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2024
    Review
  6. Review
  7. The clinical diagnosis of Parkinson's disease.Arquivos de neuro-psiquiatria · 2024
    Review
  8. Genetic Testing of Movements Disorders: A Review of Clinical Utility.Tremor and other hyperkinetic movements (New York, N.Y.) · 2024
    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

29 authors at 20 institutions in 16 countries.

Rachel Saunders-PullmanDepartment of Neurology, Mount Sinai Beth Israel, New York, New York, USA.ORCID 0000-0001-8132-8806
Deborah RaymondDepartment of Neurology, Mount Sinai Beth Israel, New York, New York, USA.
Roberto A OrtegaDepartment of Neurology, Mount Sinai Beth Israel, New York, New York, USA.ORCID 0000-0002-8044-3340
Ali ShalashDepartment of Neurology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Emilia GattoInstituto de Neurociencias Buenos Aires, Affiliated University of Buenos Aires, Buenos Aires, Argentina.
Mehri SalariFunctional Neurosurgery Research Center, Shohada-e Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran.ORCID 0000-0002-1675-681X
Maggie MarkgrafDepartment of Neurology, Mount Sinai Beth Israel, New York, New York, USA.
Roy N AlcalayDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.ORCID 0000-0002-5717-4875
Deborah MascalzoniInstitute for Biomedicine, Eurac Research, Affiliated Institute of the University of Lübeck, Bolzano, Italy.
Niccolò E MencacciKen and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.ORCID 0000-0003-3383-9665
Vincenzo BonifatiDepartment of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Marcelo MerelloMovement Disorders Section, Neuroscience Department Fleni, Buenos Aires, Argentina.ORCID 0000-0001-6898-7823
Sun Ju ChungDepartment of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.ORCID 0000-0003-4118-8233
Ivana NovakovicFaculty of Medicine, Institute of Human Genetics, School of Medicine, University of Belgrade, Belgrade, Serbia.
Soraya BardienDivision of Molecular Biology and Human Genetics, Department of Biomedical Sciences, Faculty of Medicine and Health Sciences, Stellenbosch University, Cape Town, South Africa.ORCID 0000-0002-3508-3438
Gian PalDepartment of Neurology, Rutgers-Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.ORCID 0000-0003-1048-6182
Anne HallResearch Advocate, Parkinson's Foundation, New York, New York, USA.
Nobutaka HattoriDepartment of Neurology, Faculty of Medicine, Juntendo University Tokyo, Japan.
Timothy LynchThe Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin, Ireland.
Avner ThalerMovement Disorders Unit, Neurological Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Carolyn M SueDepartment of Neurogenetics, Kolling Institute, Royal North Shore Hospital and University of Sydney, Sydney, Australia.
Tatiana ForoudDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Jennifer VerbruggeDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Jeanine SchulzeDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Lola CookDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.ORCID 0000-0001-6109-4598
Karen MarderDepartment of Neurology, Columbia University Irving Medical Center, New York, New York, USA.
Oksana SuchowerskyDepartments of Medicine (Neurology), Medical Genetics and Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Christine KleinInstitute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.
Tatyana SimuniKen and Ruth Davee Department of Neurology, Northwestern University, Feinberg School of Medicine, Chicago, Illinois, USA.
Indiana University School of MedicineMount Sinai Beth Israel · USColumbia University Irving Medical Center · USNorthwestern University · USAin Shams University · EGConsejo Nacional de Investigaciones Científicas y Técnicas · ARErasmus MC · NLParkinson's Foundation · USRIKEN Center for Brain Science · JPRutgers, The State University of New Jersey · USShahid Beheshti University of Medical Sciences · IRSouth African Medical Research Council · ZATel Aviv University · ILThe University of Sydney · AUUlsan College · KRUniversidad de Buenos Aires · ARUniversity College Dublin · IEUniversity Hospital Schleswig-Holstein · DEUniversity of Alberta · CAUniversity of Belgrade · RS

Funding

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
Evaluation of glucocerebrosidase pathway biomarkers in Parkinson DiseaseU01NS094148 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI KRAINC, DIMITRI, SAUNDERS-PULLMAN, RACHEL · 2015 to 2017
$1.4M
Molecular and Cellular Basis of the Gut-Brain Axis in Parkinsons DiseaseP20NS123220 · NINDS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI HAN, WENFEI · 2021 to 2022
$1.0M
Parkinson disease and DBS: cognitive effects in GBA mutation carriersK23NS097625 · NINDS · RUSH UNIVERSITY MEDICAL CENTER · PI PAL, GIAN D · 2017 to 2021
$936k
NINDS NIH HHS K23 NS097625NINDS NIH HHS P20 NS123220NINDS NIH HHS U01 NS094148NINDS NIH HHS U01 NS107016
6 · The paper itself

Abstract

backgroundThere is growing clinical and research utilization of genetic testing in Parkinson's disease (PD), including direct-to-consumer testing.

objectivesThe aim is to determine the international landscape of genetic testing in PD to inform future worldwide recommendations.

methodsA 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.

resultsCommon 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.

conclusionsThis 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.

Indexed as

Parkinson DiseaseCounselingGenetic TestingHumansdisparitiesgenetic counselinggeneticsgenetic testingParkinson's disease

Identifiers

PMID37310233
PMCPMC10461455
OpenAlexW4380422148

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.