Evidence map›Paper›PMID 29589152›Full record

ArticleNeurogenetics2018

Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

Tanya M Bardakjian, Ingo Helbig, Colin Quinn, Lauren B Elman, Leo F McCluskey, Steven S Scherer, Pedro Gonzalez-Alegre

Abstract read
PubMed Publisher
In one paragraph

Article in Neurogenetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
–field-weighted citation impact
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

13 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Genetic diagnosis for adult patients at a genetic clinic.Cold Spring Harbor molecular case studies · 2022
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Article
  10. Solving unsolved rare neurological diseases-a Solve-RD viewpoint.European journal of human genetics : EJHG · 2021
    Article
  11. Genetic skin disorders: The value of a multidisciplinary clinic.American journal of medical genetics. Part A · 2021
    Article
  12. Article
  13. Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.Proceedings of the National Academy of Sciences of the United States of America · 2020
    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

7 authors.

Tanya M BardakjianDepartment of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.
Ingo HelbigDepartment of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.
Colin QuinnDepartment of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.
Lauren B ElmanDepartment of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.
Leo F McCluskeyDepartment of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.
Steven S SchererDepartment of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA.
Pedro Gonzalez-AlegreDepartment of Neurology, University of Pennsylvania, 330 South 9th Street, Second Floor, Philadelphia, PA, 19107, USA. pedro.gonzalez-alegre@uphs.upenn.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended. Of those, 182 (48%) were seen in subspecialty clinic setting and 195 (52%) in a General Neurogenetics Clinic. Genetic testing was completed in over 80% of patients in whom it was recommended. The diagnostic yield was 32% across disease groups. Stratified by testing modality, the yield was highest with directed testing (50%) and array comparative genomic hybridization (45%), followed by gene panels and exome testing (25% each). In conclusion, genetic testing can be successfully requested in clinic in a large majority of adult patients. Age is not a limiting factor for a genetic diagnostic evaluation and the yield of clinical testing across phenotypes (almost 30%) is consistent with previous phenotype-focused or research-based studies. These results should inform the development of specific guidelines for clinical testing and serve as evidence to improve reimbursement by insurance payers.

Indexed as

AdultAgedAged, 80 and overFemaleGenetic TestingHumansMaleMiddle AgedNervous System DiseasesRetrospective StudiesYoung AdultDiagnostic yieldNeurologyNext-generation sequencingWhole exome sequencing

Identifiers

PMID29589152

What OpenQuestion holds

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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.