Parental experience of whole genome sequencing for children with sensorineural hearing loss
Johanna Elander1,2, Maria Värendh1,3,4, Johannes K Ehinger1,2
1Otorhinolaryngology, Head and Neck Surgery, Department of Clinical Sciences Lund, Lund University, Lund, Sweden.
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.
