# Parental experience of whole genome sequencing for children with sensorineural hearing loss

## TL;DR

This study explores how parents of children with hearing loss feel about genetic testing, finding that while it provides useful information, it can also create uncertainty and ethical concerns.

## Contribution

The study provides novel insights into parental experiences and perceptions of genetic testing for children with sensorineural hearing loss.

## Key findings

- Parents felt genetic testing offered valuable personal and practical information.
- Uncertainty and ethical concerns were also reported alongside the benefits of testing.
- Genetic knowledge influenced family planning and future expectations.

## Abstract

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.

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.

In this study, 10 parents of children with SNHL who underwent genetic testing were interviewed, and the content was analyzed using inductive thematic analysis.

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.

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.