Evidence map›Paper›PMID 32568103›Full record

ArticleJournal of Huntington's disease2020

Family Communication Patterns and Challenges of Huntington's Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results.

Kelsey Stuttgen, Juli Bollinger, Allison McCague, Rachel Dvoskin, Debra Mathews

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of Huntington's disease, 2020. 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
1.3field-weighted citation impact, top 19% of its field
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, 12 citations in OpenAlex.

  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

5 authors at 3 institutions in 1 country.

Kelsey StuttgenBerman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
Juli BollingerBerman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
Allison McCagueBerman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
Rachel DvoskinBerman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
Debra MathewsBerman Institute of Bioethics, Johns Hopkins University, Baltimore, MD, USA.
Johns Hopkins Berman Institute of Bioethics · USJohns Hopkins University · USJohns Hopkins Medicine · US

Funding

Predoctoral Training Program in Human GeneticsT32GM007814 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 1985 to 2021
$10.6M
Families At Risk: Long-term Impact of Huntington's Presymptomatic Genetic TestiR01HG008045 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI MATHEWS, DEBRA JH · 2014 to 2018
$1.5M
NHGRI NIH HHS R01 HG008045NIGMS NIH HHS T32 GM007814
6 · The paper itself

Abstract

backgroundCommunicating genetic information within families can provide individuals with the emotional support, alert family members to their own potential risk, and strengthen relationships. However, these communications have the potential to cause emotional distress to individuals and family members if family members are informed of a risk they do not wish to know or discuss. Communication about the decision to pursue testing and test results are especially sensitive in Huntington's disease (HD), where individuals often feel strongly about either knowing or not knowing their genetic status.

objectiveTo examine family communication patterns of genetic risk, the decision to pursue testing, and test results not just years, but decades after testing for HD, and examine how family communication of genetic risk information affects family relationships over the long-term.

methodsIn this qualitative study, 39 semi-structured interviews were conducted with probands who went through genetic testing for HD. Clinic notes from these individuals were also analyzed.

resultsFamily communication patterns varied based on relation (e.g., significant others, child, extended family) and were influenced by a variety of factors. Sharing with spouses and children had a positive influence on the relationship in most cases. Sharing with extended family members had varying effects on relationships. Negative effects were more likely when family members were in denial, had not pursued testing for themselves, or did not support testing.

conclusionCommunication to significant others and children, should be discussed with and supported in individuals seeking testing for HD, but for extended family members, potential effects on the relationship, emotional distress, and benefits should be discussed and weighed.

Indexed as

CommunicationFamily RelationsGenetic TestingAdultAgedFemaleHumansHuntington DiseaseMaleMiddle AgedQualitative ResearchRiskCommunicationfamily relationsgenetic testingHuntington’s disease

Identifiers

PMID32568103
PMCPMC7569676
OpenAlexW3036019325

What OpenQuestion holds

Textmetadata
LicenceTDM
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.