Evidence map›Paper›PMID 29967967›Full record

ArticleJournal of genetic counseling2018

Perspectives on Genetic Testing and Return of Results from the First Cohort of Presymptomatically Tested Individuals At Risk of Huntington Disease.

K M Stuttgen, J M Bollinger, R L Dvoskin, A McCague, B Shpritz, J Brandt, Debra J H Mathews

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of genetic counseling, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 2 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

4 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. Pooled it
  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

7 authors.

K M StuttgenBerman Institute of Bioethics, Johns Hopkins University, 1809 Ashland Avenue, Room 211, Baltimore, MD, 21205, USA.
J M BollingerBerman Institute of Bioethics, Johns Hopkins University, 1809 Ashland Avenue, Room 211, Baltimore, MD, 21205, USA.
R L DvoskinBerman Institute of Bioethics, Johns Hopkins University, 1809 Ashland Avenue, Room 211, Baltimore, MD, 21205, USA.
A McCagueBerman Institute of Bioethics, Johns Hopkins University, 1809 Ashland Avenue, Room 211, Baltimore, MD, 21205, USA.
B ShpritzDepartment of Psychiatry and Behavioral Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
J BrandtDepartment of Psychiatry and Behavioral Science, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Debra J H MathewsBerman Institute of Bioethics, Johns Hopkins University, 1809 Ashland Avenue, Room 211, Baltimore, MD, 21205, USA. dmathews@jhu.edu.

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

This qualitative study gathered opinions about genetic testing from people who received presymptomatic testing for Huntington's disease (HD) 20-30 years ago and have lived with the implications of that testing for decades. During the last section of a semi-structured interview, participants were asked open-ended questions about their opinions on the importance of autonomy in the decision to be tested for HD, whether a formal HD testing protocol is necessary, whether physician ordering for HD is acceptable without a formal protocol, whether online direct-to-consumer (DTC) genetic testing for HD is acceptable, and whether incidental/secondary findings should be returned in the context of whole exome/genome sequencing. Most-but not all-participants were in favor of an individual's right to decide whether and when to pursue HD testing, use of a formal HD testing protocol, and returning medically actionable secondary findings. However, the majority of participants were opposed not only to physician ordering and DTC HD testing in the absence of a formal protocol but also to returning a secondary finding of an expanded HD allele. This study presents the opinions of a unique and extremely well-informed cohort on issues that need to be taken into careful consideration by genetic counselors and other medical professionals who are developing genetic testing protocols, making decisions about the availability of genetic tests, and making decisions about whether and how to return incidental findings.

Indexed as

Decision MakingDirect-To-Consumer Screening and TestingGenetic TestingHealth Knowledge, Attitudes, PracticePatient PreferenceAgedFemaleFollow-Up StudiesHumansHuntington DiseaseMaleMiddle AgedQualitative ResearchDirect-to-consumer testingGenetic testingHuntington’s diseaseIncidental findingsQualitative research

Identifiers

PMID29967967
PMCPMC6212306

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.