ArticleEuropean journal of human genetics : EJHG2014
Experiences of predictive testing in young people at risk of Huntington's disease, familial cardiomyopathy or hereditary breast and ovarian cancer.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 3 of them syntheses that pooled it.
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Who cites it
24 citing papers in PubMed, 3 syntheses or guidelines pooled it, 47 citations in OpenAlex.
- Experiences of young people growing up in a family with Huntington's disease: A meta-ethnography of qualitative research.Journal of genetic counseling · 2025Pooled it
- Acceptability of predictive testing for ischemic heart disease in those with a family history and the impact of results on behavioural intention and behaviour change: a systematic review.BMC public health · 2022Pooled it
- Impact of presymptomatic genetic testing on young adults: a systematic review.European journal of human genetics : EJHG · 2016Pooled it
- Impact of Genetic Testing for Cardiomyopathy on Emotional Well-Being and Family Dynamics: A Study of Parents and Adolescents.Circulation. Genomic and precision medicine · 2021Trial
- Young people's experience of predictive genetic testing for inherited cardiac conditions: a qualitative study.European journal of human genetics : EJHG · 2026Article
- Predictive genetic testing in amyotrophic lateral sclerosis (ALS): Experiences of decision-making and engagement with UK genetic counseling services.Journal of genetic counseling · 2026Article
- Quality of Life in Adult Individuals Living With or at Risk of a Hereditary Cancer Predisposition Syndrome: A Scoping Review of the Qualitative Literature.Cancer medicine · 2025Article
- Need for specially designed educational support groups: Young women's experiences of being identified with BRCA pathogenic variants.Journal of genetic counseling · 2025Article
- Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study.Journal of genetic counseling · 2025Article
- Genetic counselling as a route to enhanced autonomy: using a sequential mixed methods research approach to develop a theory regarding presymptomatic genetic testing for young adults at risk of inherited cancer syndromes.Journal of community genetics · 2021Article
- Patient-Reported Outcomes following Genetic Testing for Familial Hypercholesterolemia, Breast and Ovarian Cancer Syndrome, and Lynch Syndrome: A Systematic Review.Journal of personalized medicine · 2021Review
- Young people's moral attitudes and motivations towards direct-to-consumer genetic testing for inherited risk of Alzheimer disease.European journal of medical genetics · 2021Article
- Examining the uptake of predictive BRCA testing in the UK; findings and implications.European journal of human genetics : EJHG · 2021Article
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
- Psychosocial Impact of Predictive Genetic Testing in Hereditary Heart Diseases: The PREDICT Study.Journal of clinical medicine · 2020Article
- A framework for youth-friendly genetic counseling.Journal of community genetics · 2020Article
- I Would Never Take Preventive Medication! Perspectives and Information Needs of People Who Underwent Predictive Tests for Rheumatoid Arthritis.Arthritis care & research · 2020Article
- Ethics in genetic counselling.Journal of community genetics · 2019Review
- Brain and behavior development in autism from birth through infancy.Dialogues in clinical neuroscience · 2017Article
- Prospective Evaluation of Predictive DNA Testing for Huntington's Disease in a Large German Center.Journal of genetic counseling · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While debate has focused on whether testing of minors for late onset genetic disorders should be carried out if there is no medical benefit, less is known about the impact on young people (<25 years) who have had predictive testing often many years before the likely onset of symptoms. We looked at the experiences of young people who had had predictive testing for a range of conditions with variable ages at onset and options for screening and treatment. A consecutive series of 61 young people who had a predictive test aged 15-25 years at the Clinical Genetic Service, Manchester, for HD, HBOC (BrCa 1 or 2) or FCM (Hypertrophic Cardiomyopathy or Dilated Cardiomyopathy), were invited to participate. Thirty-six (36/61; 59%) agreed to participate (10 HD, 16 HBOC and 10 FCM) and telephone interviews were audiotaped, transcribed and analysed using Interpretative Phenomenological Analysis. None of the participants expressed regret at having the test at a young age. Participants saw the value of pretest counselling not in facilitating a decision, but rather as a source of information and support. Differences emerged among the three groups in parent/family involvement in the decision to be tested. Parents in FCM families were a strong influence in favour of testing, in HBOC the decision was autonomous but usually congruent with the views of parents, whereas in HD the decision was autonomous and sometimes went against the opinions of parents/grandparents. Participants from all three groups proposed more tailoring of predictive test counselling to the needs of young people.
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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.