Evidence map›Paper›PMID 28361381›Full record

ArticleJournal of genetic counseling2017

Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.

Aysegül Ibisler, Sebastian Ocklenburg, Susanne Stemmler, Larissa Arning, Jörg T Epplen, Carsten Saft, Sabine Hoffjan

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In one paragraph

Article in Journal of genetic counseling, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed, 1 pooled it
–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

8 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Article
  6. Review
  7. Article
  8. Should we implement population screening for fragile X?Genetics in medicine : official journal of the American College of Medical Genetics · 2017
    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

7 authors.

Aysegül IbislerDepartment of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany. ayseguel.ibisler@ruhr-uni-bochum.de.ORCID http://orcid.org/0000-0002-9289-6021
Sebastian OcklenburgDepartment of Biopsychology, Institute of Cognitive Neuroscience, Ruhr-University Bochum, Bochum, Germany.
Susanne StemmlerDepartment of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.
Larissa ArningDepartment of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.
Jörg T EpplenDepartment of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.
Carsten SaftCenter for Rare Diseases Ruhr (CeSER), Bochum, Germany.
Sabine HoffjanDepartment of Human Genetics, Huntington Center NRW, Ruhr-University Bochum, Universitätsstraße 150, 44801, Bochum, Germany.

Funding

Medizinische Fakultät, Ruhr-Universität Bochum K040-09
6 · The paper itself

Abstract

We present a prospective study of counselees seeking predictive testing for Huntington's disease at the Huntington Center North Rhine-Westphalia (Bochum, Germany) between 2010 and 2012. The aim was to observe the decision-making process of at-risk individuals and explore their experiences following the decision as well as the impacts of positive and negative mutation results. Data were collected using two standardized questionnaires as well as via a semi-standardized telephone interview one year after the initial counseling session. Seventy-two  individuals participated in at least one of the three phases of the survey, including 31 individuals in the telephone interview. Sociodemographic data were in accordance with previous reports. The process of predictive testing was generally perceived in a positive manner, with almost all interviewees reporting a balanced emotional state one year after initial counseling, regardless of the decision for or against the test. The most important reasons named in favor of or against testing were assembled as well as different aspects regarding the satisfaction with the reached decision. In line with and expanding previous observations on gender-related differences in decision-making, our results suggest that gender-related aspects should be more strongly taken into account in genetic counseling during the predictive testing and counseling processes.

Indexed as

DNA Mutational AnalysisAdultDecision MakingFemaleGenetic CounselingGenetic TestingHumansHuntington DiseaseMaleProspective StudiesSurveys and QuestionnairesDecision-makingGender differencesGenetic counselingHuntington’s diseaseMotivationPredictive testing

Identifiers

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.