Evidence map›Paper›PMID 39473968›Full record

ArticleNeurology. Clinical practice2025

Randomized Trial of Telegenetic Counseling for Gene Testing in Huntington Disease.

Deborah A Hall, Marc Rosenbaum, Jacob Hawkins, Bichun Ouyang, Christa Cooper, Neepa Patel

Abstract read
In one paragraph

Article in Neurology. Clinical practice, 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. Review
  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

6 authors.

Deborah A HallDepartment of Neurological Sciences, Rush University Medical Center, Chicago, IL.ORCID https://orcid.org/0000-0003-2772-7851
Marc RosenbaumDepartment of Neurological Sciences, Rush University Medical Center, Chicago, IL.ORCID https://orcid.org/0000-0001-5799-3646
Jacob HawkinsDepartment of Neurological Sciences, Rush University Medical Center, Chicago, IL.ORCID https://orcid.org/0009-0005-6424-2468
Bichun OuyangDepartment of Neurological Sciences, Rush University Medical Center, Chicago, IL.ORCID https://orcid.org/0000-0002-0452-7219
Christa CooperDepartment of Neurological Sciences, Rush University Medical Center, Chicago, IL.ORCID https://orcid.org/0000-0001-9395-2980
Neepa PatelDepartment of Neurological Sciences, Rush University Medical Center, Chicago, IL.ORCID https://orcid.org/0000-0002-0073-9783

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background and Objectives: The purpose of the study was to determine the feasibility and patient satisfaction of telegenetic counseling, or counseling done by video, for Huntington disease (HD). Background: Genetic counseling is necessary for presymptomatic or symptomatic HD genetic testing, but the lack of access to counseling because of geography or expense is a critical gap for many patients. The hypothesis of this study was that there would be no difference in patient satisfaction between telegenetic counseling (tele-GC) or in-person counseling (in-person GC) for HD testing. Methods: This was a prospective, randomized, unblinded study of either tele-GC or in-person GC for HD gene testing. Participants had standardized genetic counseling in the clinic or through a Health Insurance Portability and Accountability Act (HIPAA) appropriate telemedicine platform first and then crossed over. A study coordinator interviewed the participant using a telehealth survey after each encounter. Results: A total of 19 in-person GC and 15 tele-GC participants were included: 68% women, 41 ± 15 years, 80% White, 10% Hispanic, and +CAG repeat length = 45 ± 4.4 (n = 15) ( Discussion: Telegenetic counseling is a feasible option for HD gene testing, if patients are able to overcome technical issues. Having a video visit with both audio and video components, rather than an audio-only phone call, should be considered when using telegenetic counseling for HD. Finally, in-person counseling may be preferred to increase understanding of the genetic counseling materials in patients, especially in motor manifest HD.

Identifiers

PMID39473968
PMCPMC11515112

What OpenQuestion holds

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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.