Evidence map›Paper›PMID 38741209›Full record

ArticleJournal of genetic counseling2025

Predictive genetic testing for Huntington's disease: Exploring participant experiences of uncertainty and ambivalence between clinic appointments.

L M Ballard, S Doheny, R Dimond, A M Lucassen, A J Clarke

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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. 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.

L M BallardClinical Ethics, Law & Society (CELS), Primary Care, Population Sciences and Medical Education, Aldermoor Health Centre, Aldermoor Close, Southampton, UK.ORCID 0000-0003-1017-4322
S DohenyInstitute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.ORCID 0000-0003-0529-7301
R DimondSchool of Social Science, Cardiff University, Cardiff, Wales, UK.ORCID 0000-0003-1974-7289
A M LucassenClinical Ethics, Law & Society (CELS), Primary Care, Population Sciences and Medical Education, Aldermoor Health Centre, Aldermoor Close, Southampton, UK.ORCID 0000-0003-3324-4338
A J ClarkeInstitute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University, Cardiff, UK.ORCID 0000-0002-1200-9286

Funding

Economic and Social Research Council ES/R003092/1
6 · The paper itself

Abstract

Ambivalence and uncertainty are key themes throughout the psychology of healthcare literature. This is especially so for individuals at risk of Huntington's disease (HD) deliberating the decision to undergo genetic testing because there is currently no treatment that modifies disease progression. A better understanding of the experience of making a decision about genetic prediction will help practitioners support and guide individuals through this process. Our aim was to capture participants' experiences of uncertainty and ambivalence in between their genetic counseling appointments. We explored these issues through the experiences of nine participants who were referred for predictive HD testing at four regional genetics services in England and Wales. Data consisted of recordings of clinic consultations, diaries, and an in-depth interview conducted at the end of the testing process. Data were analyzed thematically. Four themes were identified representing four possible futures, each future dependent on the decision to undergo testing and the result of that test. Our results showed that participants, as well as attending more to a future that represents their current situation of not having undergone predictive testing, also attended more to a distant future where a positive predictive result is received and symptoms have started. Participants attended less to the two futures that were more immediate once testing was undertaken (a future where a positive result is received and symptoms have not started and a future where a negative result is received). The use of diaries gave us a unique insight into these participants' experiences of ambivalence and uncertainty, psychological distress, and the emotional burden experienced. These findings help inform discussions within the clinic appointment as well as encourage researchers to consider diary use as a method of exploring what happens for individuals outside of clinical encounters.

Indexed as

Genetic TestingHuntington DiseaseAdultFemaleGenetic CounselingHumansMaleMiddle AgedUncertaintyambivalencedecision makingHuntington's diseasepredictive genetic testinguncertainty

Identifiers

PMID38741209
PMCPMC11735177

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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.