Evidence map›Paper›PMID 32185241›Full record

ArticleNeurology. Genetics2020

Genetic testing utilization for patients with neurologic disease and the limitations of claims data.

Samuel J Mackenzie, Chun Chieh Lin, Peter K Todd, James F Burke, Brian C Callaghan

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology. Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Disparities in Genetic Testing for Inborn Errors of Immunity.The journal of allergy and clinical immunology. In practice · 2025
    Article
  4. Article
  5. Article
  6. 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

5 authors.

Samuel J MackenzieDivision of Pediatric Neurology (S.J.M.), Department of Pediatrics, University of Michigan; Department of Neurology (C.C.L, P.K.T., J.F.B, B.C.C.), University of Michigan; Department of Veterans Affairs Ann Arbor Healthcare System (P.K.T., J.F.B, B.C.C.); and the Institute for Healthcare Policy and Innovation (J.F.B, B.C.C.), University of Michigan, Ann Arbor, MI.ORCID 0000-0002-5571-7370
Chun Chieh LinDivision of Pediatric Neurology (S.J.M.), Department of Pediatrics, University of Michigan; Department of Neurology (C.C.L, P.K.T., J.F.B, B.C.C.), University of Michigan; Department of Veterans Affairs Ann Arbor Healthcare System (P.K.T., J.F.B, B.C.C.); and the Institute for Healthcare Policy and Innovation (J.F.B, B.C.C.), University of Michigan, Ann Arbor, MI.
Peter K ToddDivision of Pediatric Neurology (S.J.M.), Department of Pediatrics, University of Michigan; Department of Neurology (C.C.L, P.K.T., J.F.B, B.C.C.), University of Michigan; Department of Veterans Affairs Ann Arbor Healthcare System (P.K.T., J.F.B, B.C.C.); and the Institute for Healthcare Policy and Innovation (J.F.B, B.C.C.), University of Michigan, Ann Arbor, MI.
James F BurkeDivision of Pediatric Neurology (S.J.M.), Department of Pediatrics, University of Michigan; Department of Neurology (C.C.L, P.K.T., J.F.B, B.C.C.), University of Michigan; Department of Veterans Affairs Ann Arbor Healthcare System (P.K.T., J.F.B, B.C.C.); and the Institute for Healthcare Policy and Innovation (J.F.B, B.C.C.), University of Michigan, Ann Arbor, MI.
Brian C CallaghanDivision of Pediatric Neurology (S.J.M.), Department of Pediatrics, University of Michigan; Department of Neurology (C.C.L, P.K.T., J.F.B, B.C.C.), University of Michigan; Department of Veterans Affairs Ann Arbor Healthcare System (P.K.T., J.F.B, B.C.C.); and the Institute for Healthcare Policy and Innovation (J.F.B, B.C.C.), University of Michigan, Ann Arbor, MI.

Funding

Hexanucleotide repeat translation in ALS and Frontotemporal DementiaR01NS099280 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Peter K Todd · 2016 to 2026
$4.9M
NINDS NIH HHS R01 NS099280
6 · The paper itself

Abstract

objectiveTo determine the utilization of genetic testing in patients seen by a neurologist within a large private insurance population.

methodsUsing the Optum health care claims database, we identified a cross-sectional cohort of patients who had been evaluated by a neurologist no more than 30 days before initial genetic testing. Within this group, we then categorized genetic testing between 2014 and 2016 on the basis of the Current Procedural Terminology (CPT) codes related to molecular and genetic testing. We also evaluated the International Classification of Disease Version 9 Clinical Code Classifications (ICD-9 CCS) associated with testing.

resultsFrom 2014 to 2016, a total of 45,014 claims were placed for 29,951 patients who had been evaluated by a neurologist within the preceding 30 days. Of these, 29,926 (66.5%) were associated with codes that were too nonspecific to infer what test was actually performed. Among those claims where the test was clearly identifiable, 7,307 (16.2%) were likely obtained for purposes of neurologic diagnosis, whereas the remainder (17.2%) was obtained for non-neurological purposes. An additional 3,793 claims (8.4%) wherein the test ordered could not be clearly identified were associated with a neurology-related ICD-9 CCS.

conclusionsAccurate assessment of genetic testing utilization using claims data is not possible given the high prevalence of nonspecific codes. Reducing the ambiguity surrounding the CPT codes and the actual testing performed will become even more important as more genetic tests become available.

Identifiers

PMID32185241
PMCPMC7061285

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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.