ArticleEuropean journal of human genetics : EJHG2018
Decision making and experiences of young adults undergoing presymptomatic genetic testing for familial cancer: a longitudinal grounded theory study.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Public perspectives on healthcare professional-directed communication of hereditary genetic risks: a mixed-method systematic review.European journal of human genetics : EJHG · 2026Pooled it
- Parents' perceptions of diagnostic genetic testing for children with inherited retinal disease in China.Molecular genetics & genomic medicine · 2019Trial
- Cascade testing as the missing link in cancer prevention among Lynch syndrome families.Familial cancer · 2026Article
- "Would you want to know?" Questions of utility and responsibility in Italian laypersons' preferences about genetic risk communication.Journal of community genetics · 2025Article
- Research methodologies in genetic counseling: Grounded theory.Journal of genetic counseling · 2025Article
- Developing a questionnaire to explore lay people's preferences for communicating hereditary conditions within families: insights from a cognitive interview study.Journal of community genetics · 2025Article
- Need for specially designed educational support groups: Young women's experiences of being identified with BRCA pathogenic variants.Journal of genetic counseling · 2025Article
- Survivorship after adolescent and young adult cancer: models of care, disparities, and opportunities.Journal of the National Cancer Institute · 2024Article
- Cascade testing in Italian Hereditary Breast Ovarian Cancer families: a missed opportunity for cancer prevention?Familial cancer · 2024Article
- Racial segregation and genomics-related knowledge, self-efficacy, perceived importance, and communication among medically underserved patients.Genetics in medicine open · 2024Article
- Adolescent and young adult cancers: unmet needs and closing the gaps.Current opinion in pediatrics · 2023Review
- Factors impacting adolescent and young adult cancer patients' decision to pursue genetic counseling and testing.Supportive care in cancer : official journal of the Multinational Association of Supportive Care in Cancer · 2022Article
- Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using Semi-Structured Interviews.Diagnostics (Basel, Switzerland) · 2022Article
- 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
- Sudden shift to remote genetic counseling during the COVID-19 pandemic: Experiences of genetics professionals in Italy.Journal of genetic counseling · 2021Article
- A scoping review of social and behavioral science research to translate genomic discoveries into population health impact.Translational behavioral medicine · 2021Article
- How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study.European journal of human genetics : EJHG · 2020Article
- A framework for youth-friendly genetic counseling.Journal of community genetics · 2020Article
- Parental perspectives on decision-making about hypospadias surgery.Journal of pediatric urology · 2019Article
- Presymptomatic genetic testing for hereditary cancer in young adults: a survey of young adults and parents.European journal of human genetics : EJHG · 2019Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Enabling informed choice is an essential component of care when offering young adults presymptomatic testing for a genetic condition. A systematic review on this topic revealed that many young adults grew up with little information regarding their genetic risk and that parents had applied pressure to them during the testing decision-making process. However, none of the studies retrieved were conducted in South European countries. To address this gap, we undertook a qualitative study based on grounded theory to explore the psychosocial implications of presymptomatic testing for hereditary cancer in Italian young adults aged 18-30 years. Interviews were conducted on three occasions: 1 month before counselling, and 2 weeks and 6 months after results. Data were coded and grouped under themes. A total of 42 interviews were conducted. Four themes emerged: knowledge, genetic counselling process, decision making and dealing with test results. Although participants grew up with little or no information about their genetic risk, none expressed regret at having the test at a young age. Pre-test counselling was appreciated as a source of information, rather than support for decision making. Decisions were often made autonomously and sometimes conflicted with parents' wishes. Participants reported no changes in health behaviours after testing. This evidence highlights the need for a comprehensive, longitudinal counselling process with appropriate timing and setting, which supports 'parent-to-offspring' risk communication first and decision making by young adults about presymptomatic testing and risk management afterwards. In conclusion, it is clear that counselling approaches for presymptomatic testing may require modification both for young adults and their parents.
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