Parental perspective of the benefits of genetic testing in children with congenital deafness

Abstract

Aim: The aim of the study was to assess the perceived value of genetic testing for congenital deafness in families attending a clinical genetic outpatients department at a children's hospital. The major testing objective was to provide information regarding deafness etiology, although families were advised that changes in treatment as a result of the test were unlikely. Using a 'willingness-to-pay' approach in the form of a questionnaire developed by Ryan et al. [J Med Genet 2003;40:1-5], parents were surveyed for their attitudes and willingness to pay for genetic testing.

Results: Forty-nine families provided data for analysis, representing 56% of clinic attendances throughout the period. Most of the parents were themselves unaffected by hearing loss (93%) and none were deaf, although almost a quarter (22%) reported a family member born deaf. Parents considered the major benefit gained from testing was to better achieve clarity of understanding arising from discussion and the possible ascertainment of etiology. The average sum parents were willing to pay for genetic testing was 200 Australian dollars (AUD, 2007) or approximately 123 euros (EUR), ranging from 150 to 295 AUD according to ability to pay (as measured by gross income). However, the amount that even the highest income level were willing to pay underestimated the full economic cost of genetic testing.

Conclusion: Genetic testing for deafness is highly valued by affected families despite the current limited overall expectation of definitive genetic diagnosis or changes in treatment. Parents considered the major benefits to be a better understanding of congenital deafness and the potential for assignment of causality.