Peer-reviewed article
Parental experience of whole genome sequencing for children with sensorineural hearing loss.
Johanna Elander, Maria Värendh, Johannes K Ehinger, Karin Stenfeldt, Stephen Widén ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This study explores parents' experiences of genetic testing (whole genome sequencing) for children with sensorineural hearing loss. The research found that parents valued genetic information for understanding their child's condition and planning for the future, but also experienced uncertainty and concern. The genetic test itself does not change treatment options. Parents expressed mixed feelings about the benefits and challenges of knowing genetic diagnoses.
Key points
- Parents experienced uncertainty related to information provided, test results, and child-related factors
- Parents valued genetic knowledge for making the future more predictable and for practical family planning implications
- A genetic diagnosis can cause concern and anxiety for families
- Genetic testing provided valuable personal information despite not influencing treatment decisions
- Knowledge from genetic testing can be ethically complex and challenging for parents
Limitations
This is a qualitative study with only 10 parent interviews, so findings cannot be generalised to all families or populations. The study does not measure health outcomes or the actual impact of genetic testing on child wellbeing or family decisions.
Abstract
PURPOSE: The purpose of this in-depth interview study was to explore how parents of children with sensorineural hearing loss (SNHL) experienced genetic testing and whether they experienced risks and benefits. BACKGROUND: Most children with SNHL have a genetic etiology, which can be identified through genetic sequencing. A genetic test does not influence treatment, and whether patients and parents perceived genetic tests as valuable is unclear. METHODS: In this study, 10 parents of children with SNHL who underwent genetic testing were interviewed, and the content was analyzed using inductive thematic analysis. RESULTS: Three global themes were identified. In the first theme, (1) Limited knowledge creates uncertainty, parents described uncertainty related to the information provided, the test result itself and child-related factors. The second theme, (2) Genetic knowledge is considered important for the family and the future, explored the importance of knowledge. Parents wanted an explanation to make the future predictable, and the test had practical implications. In the last category, (3) Knowledge adds complexity and can be challenging, ethical considerations and risks associated with knowledge were highlighted. CONCLUSION: The main conclusion was that parents experienced that genetic testing provided valuable personal information and had practical implications. However, a genetic diagnosis can cause concern and may affect family planning.