Evidence map›Paper›PMID 40879094›Full record

ArticleJournal of genetic counseling2025

Subspecialty neurology genetic counselors-A cost effective solution to substantial time costs associated with genomic testing in the neurology clinic.

John Coleman, Patrick Moloney, Claire Giffney, Mary O Regan, David Webb, Kenny Lynch, Leona Connolly, Janna Kenny, Susan Byrne

Abstract read
In one paragraph

Article in Journal of genetic counseling, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

9 authors.

John ColemanDepartment of Clinical Genetics, Children's Health Ireland, Crumlin, Dublin, Ireland.ORCID 0000-0001-6246-3201
Patrick MoloneyFutureNeuro, Royal College of Surgeons Ireland, Dublin, Ireland.
Claire GiffneyDepartment of Clinical Genetics, Children's Health Ireland, Crumlin, Dublin, Ireland.
Mary O ReganDepartment of Pediatric Neurology, Children's Health Ireland Crumlin, Dublin, Ireland.
David WebbDepartment of Pediatric Neurology, Children's Health Ireland Crumlin, Dublin, Ireland.
Kenny LynchDepartment of Pediatric Neurology, Children's Health Ireland Crumlin, Dublin, Ireland.
Leona ConnollyDepartment of Pediatric Neurology, Children's Health Ireland Crumlin, Dublin, Ireland.
Janna KennyDepartment of Clinical Genetics, Children's Health Ireland, Crumlin, Dublin, Ireland.
Susan ByrneFutureNeuro, Royal College of Surgeons Ireland, Dublin, Ireland.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

To understand the modality and results of genetic testing in a tertiary pediatric neurology center, we undertook a review of testing to provide insights into both direct and indirect costs of testing within the department. The financial cost of 5 years (2017-2022) of genetic testing sent by the neurology department in Children's Health Ireland, Crumlin, was calculated using the local testing cost directory and converted to USD based on the relevant exchange rate. We calculated the indirect clinical costs based on previously reported time estimates. This included an estimate for face-to-face patient-related activity and additional patient-related activity. We explored the challenges raised from the data. Eight hundred and twenty-three genetic tests were requested on 541 patients over the 5-year study period by 2.5 neurology consultants full-time equivalents (FTE). The total direct cost of testing was $802,278 over the 5-year period ($160,462.68 per annum). For indirect costing, the estimate of 45 min per person for face-to-face-related testing activities took the neurology consultants 617.25 h to obtain consent and deliver results, which equates to 16.6 weeks of consultant clinical time during the study period. With regard to indirect time, an additional 3 h of patient-related activity equates to 43.9 working weeks over the study period. We estimate a potential saving of $217,127.8 if these duties were provided by a genetic counselor rather than a consultant. The addition of a genetic counselor would significantly free up neurology consultant time as the estimated activity of the patient-facing activity and patient-related activity equals an estimated 60.6 consultant work weeks over the 5-year study period. New genetic and genomic testing modalities have led to massive improvements in diagnostic rates in neurology conditions. While we had anticipated that our study would demonstrate significant direct costs, we had not expected such substantial indirect (time associated) costs associated with genetic testing. This study highlights the benefit of additional subspecialty genetic counselors to support care in mainstream genetic testing.

Indexed as

Cost-Benefit AnalysisGenetic CounselingGenetic TestingNeurologyHumansIrelandconsentcost of testinggenetic testingindirect costneurologytime

Identifiers

PMID40879094
PMCPMC12322617

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Registered trials

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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.