ArticleJournal of genetic counseling2013
"Grasping the grey": patient understanding and interpretation of an intermediate allele predictive test result for Huntington disease.
Article in Journal of genetic counseling, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled 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.
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.
Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Clinical and psychological outcomes of receiving a variant of uncertain significance from multigene panel testing or genomic sequencing: a systematic review and meta-analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- Assessing parental understanding of variant reclassification in pediatric neurology and developmental pediatrics clinics.Journal of community genetics · 2021Article
- Teenagers and Precision Psychiatry: A Window of Opportunity.Public health genomics · 2021Article
- Experiences and lessons learned by genetic counselors in returning secondary genetic findings to patients.Journal of genetic counseling · 2020Article
- Women's experiences of participating in a prospective, longitudinal postpartum depression study: insights for perinatal mental health researchers.Archives of women's mental health · 2017Article
- Obsessive-Compulsive Disorder: The Process of Parental Adaptation and Implications for Genetic Counseling.Journal of genetic counseling · 2016Article
- "Something Extra on Chromosome 5": Parents' Understanding of Positive Prenatal Chromosomal Microarray Analysis (CMA) Results.Journal of genetic counseling · 2016Article
- Social and behavioral research in genomic sequencing: approaches from the Clinical Sequencing Exploratory Research Consortium Outcomes and Measures Working Group.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Review
- Incidental findings from clinical genome-wide sequencing: a review.Journal of genetic counseling · 2014Review
- Knowledge of and interest in genetic results among Parkinson disease patients and caregivers.Journal of genetic counseling · 2014Article
- "Nothing is absolute in life": understanding uncertainty in the context of psychiatric genetic counseling from the perspective of those with serious mental illness.Journal of genetic counseling · 2013Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Since the discovery of the genetic mutation underlying Huntington disease (HD) and the development of predictive testing, the genetics of HD has generally been described as straightforward; an individual receives either mutation-positive or negative predictive test results. However, in actuality, the genetics of HD is complex and a small proportion of individuals receive an unusual predictive test result called an intermediate allele (IA). Unlike mutation-positive or negative results, IAs confer uncertain clinical implications. While individuals with an IA will usually not develop HD, there remains an unknown risk for their children and future generations to develop the disorder. The purpose of this study was to explore how individuals understood and interpreted their IA result. Interviews were conducted with 29 individuals who received an IA result and 8 medical genetics service providers. Interviews were analyzed using the constant comparative method and the coding procedures of grounded theory. Many participants had difficulty "Grasping the Grey" (i.e. understanding and interpreting their IA results) and their family experience, beliefs, expectations, and genetic counseling influenced the degree of this struggle. The theoretical model developed informs clinical practice regarding IAs, ensuring that this unique subset of patients received appropriate education, support, and counseling.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.