Evidence map›Paper›PMID 25127731›Full record

ArticleJournal of genetic counseling2015

Interest in genetic testing in Ashkenazi Jewish Parkinson's disease patients and their unaffected relatives.

Manisha Gupte, Roy N Alcalay, Helen Mejia-Santana, Deborah Raymond, Rachel Saunders-Pullman, Ernest Roos, Martha Orbe-Reily, Ming-X Tang, Anat Mirelman, Laurie Ozelius and 5 more

Open access · greenAbstract read
In one paragraph

Article in Journal of genetic counseling, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.

0numbers the graph read from it
0cells of the map it votes in
16citing papers in PubMed
1.1field-weighted citation impact, top 22% 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, 30 citations in OpenAlex.

  1. Trial
  2. 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
  3. Article
  4. Article
  5. Article
  6. Genetic Testing in Parkinson's Disease.Movement disorders : official journal of the Movement Disorder Society · 2023
    Article
  7. Article
  8. The Role of Genetic Testing for Parkinson's Disease.Current neurology and neuroscience reports · 2021
    Review
  9. Experience in Genetic Counseling forMovement disorders clinical practice · 2021
    Article
  10. Therapy of Parkinson's Disease Subtypes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020
    Review
  11. Article
  12. Article
  13. Article
  14. Attitudes Toward Genetic Testing for Celiac Disease.Journal of genetic counseling · 2016
    Article
  15. Article
  16. Disclosure of research results in genetic studies of Parkinson's disease caused by LRRK2 mutations.Movement disorders : official journal of the Movement Disorder Society · 2015
    Article
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

15 authors at 6 institutions in 2 countries.

Manisha GupteDepartment of Neurology, College of Physicians and Surgeons, Columbia University, 630 W 168th St, New York, NY, 10032, USA.
Roy N Alcalay
Helen Mejia-Santana
Deborah Raymond
Rachel Saunders-Pullman
Ernest Roos
Martha Orbe-Reily
Ming-X Tang
Anat Mirelman
Laurie Ozelius
Avi Orr-Urtreger
Lorraine Clark
Nir Giladi
Susan Bressman
Karen Marder
Columbia University · USAlbert Einstein College of Medicine · USTel Aviv University · ILIcahn School of Medicine at Mount Sinai · USMount Sinai Beth Israel · USTel Aviv Sourasky Medical Center · IL

Funding

CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024156 · NCRR · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2006 to 2011
$53.0M
Satellite Diagnostic and Treatment Clinic CoreP50AG008702 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI DE JAGER, PHILIP L · 1989 to 2019
$46.3M
Clinical and Translational Science AwardUL1TR000040 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2012 to 2015
$26.2M
TRANSLATIONAL APPROACHES TO NEUROPROTECTION OF AXONS IN PDrP50NS038370 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BURKE, ROBERT E · 1999 to 2014
$24.0M
Institutional Career Development CoreKL2TR001874 · NCATS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GENKINGER, JEANINE M., SHIMBO, DAICHI · 2016 to 2025
$13.6M
Imaging genetics of spasmodic dysphoniaR01DC011805 · NIDCD · MASSACHUSETTS EYE AND EAR INFIRMARY · PI Kristina Simonyan · 2012 to 2026
$8.8M
Torsin Function in DrosiphilaP01NS037409 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI RAMESH, VIJAYA · 1999 to 2007
$8.5M
Identification of Susceptibility Genes for Essential TremorR01NS073872 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLARK, LORRAINE N, LOUIS, ELAN D · 2011 to 2019
$7.4M
Coenzyme Q10 in Huntingtons DiseaseU01NS052592 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI CUDKOWICZ, MERIT E · 2008 to 2013
$7.3M
GENETIC EPIDEMIOLOGY OF PARKINSONS DISEASER01NS036630 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MARDER, KAREN S · 1998 to 2008
$6.8M
Molecular Genetic Analysis of Lysosomal Storage Disorder Genes in PDR01NS060113 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI CLARK, LORRAINE N · 2008 to 2011
$1.4M
The role of glucocerebrosidase in Parkinson's diseaseK02NS080915 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI ALCALAY, ROY · 2012 to 2016
$905k
NCATS NIH HHS KL2 TR001874NCATS NIH HHS UL1 TR000040NCRR NIH HHS UL1 RR024156NIA NIH HHS P50 AG008702NIDCD NIH HHS R01 DC011805NINDS NIH HHS K02 NS073836NINDS NIH HHS K02 NS080915NINDS NIH HHS NS050487NINDS NIH HHS NS060113NINDS NIH HHS P01 NS037409NINDS NIH HHS P50 NS038370NINDS NIH HHS R01 NS036630NINDS NIH HHS R01 NS060113NINDS NIH HHS R01 NS073872NINDS NIH HHS R21 NS050487NINDS NIH HHS R21 NS075881NINDS NIH HHS R56 NS036630NINDS NIH HHS R56NS036630NINDS NIH HHS U01 NS052592PHS HHS UL1 10628097
6 · The paper itself

Abstract

Our objective was to explore interest in genetic testing among Ashkenazi Jewish (AJ) Parkinson's Disease (PD) cases and first-degree relatives, as genetic testing for LRRK2 G2019S is widely available. Approximately 18 % of AJ PD cases carry G2019S mutations; penetrance estimations vary between 24 and 100 % by age 80. A Genetic Attitude Questionnaire (GAQ) was administered at two New York sites to PD families unaware of LRRK2 G2019S mutation status. The association of G2019S, age, education, gender and family history of PD with desire for genetic testing (outcome) was modeled using logistic regression. One-hundred eleven PD cases and 77 relatives completed the GAQ. Both PD cases and relatives had excellent PD-specific genetic knowledge. Among PD, 32.6 % "definitely" and 41.1 % "probably" wanted testing, if offered "now." Among relatives, 23.6 % "definitely" and 36.1 % "probably" wanted testing "now." Desire for testing in relatives increased incrementally based on hypothetical risk of PD. The most important reasons for testing in probands and relatives were: if it influenced medication response, identifying no mutation, and early prevention and treatment. In logistic regression, older age was associated with less desire for testing in probands OR = 0.921 95%CI 0.868-0.977, p = 0.009. Both probands and relatives express interest in genetic testing, despite no link to current treatment or prevention.

Indexed as

Genetic TestingAgedAge FactorsEducational StatusFamilyFemaleHumansJewsLeucine-Rich Repeat Serine-Threonine Protein Kinase-2MaleMiddle AgedMutationParkinson DiseasePatient SelectionProtein Serine-Threonine KinasesRiskLeucine-Rich Repeat Serine-Threonine Protein Kinase-2LRRK2 protein, humanProtein Serine-Threonine Kinases

Identifiers

PMID25127731
PMCPMC4331260
OpenAlexW2082710928

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.