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

Overview of attention for article published in neurogenetics, March 2018
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19 Mendeley
Title
Genetic test utilization and diagnostic yield in adult patients with neurological disorders
Published in
neurogenetics, March 2018
DOI 10.1007/s10048-018-0544-x
Pubmed ID
Authors

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

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.

Twitter Demographics

The data shown below were collected from the profiles of 2 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 19 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 19 100%

Demographic breakdown

Readers by professional status Count As %
Student > Master 3 16%
Professor 2 11%
Student > Postgraduate 2 11%
Researcher 2 11%
Other 2 11%
Other 3 16%
Unknown 5 26%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 4 21%
Medicine and Dentistry 4 21%
Agricultural and Biological Sciences 2 11%
Computer Science 1 5%
Neuroscience 1 5%
Other 1 5%
Unknown 6 32%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 29 March 2018.
All research outputs
#7,980,986
of 12,728,337 outputs
Outputs from neurogenetics
#182
of 273 outputs
Outputs of similar age
#161,793
of 272,966 outputs
Outputs of similar age from neurogenetics
#2
of 5 outputs
Altmetric has tracked 12,728,337 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 273 research outputs from this source. They receive a mean Attention Score of 4.3. This one is in the 24th percentile – i.e., 24% of its peers scored the same or lower than it.
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We're also able to compare this research output to 5 others from the same source and published within six weeks on either side of this one. This one has scored higher than 3 of them.