Psychological impact of a genetic diagnosis on hearing impairment—An exploratory study

Abstract

Objective: Genetic testing for hereditary hearing impairment has become more routinely available as a diagnostic tool in the outpatient clinic. However, little is known about the psychological impact of a genetic diagnosis. To evaluate this impact, an exploratory study was conducted.Design: Prospectively, 48 individuals who underwent genetic testing for hereditary hearing impairment were included in this study. Study participants were asked to fill out the following questionnaires: Hospital Anxiety Depression Scale, Impact of Event Scale, Self-Efficacy 24, Illness Cognition Questionnaire and the Inventory for Social Reliance. Questionnaires were filled out on three occasions: before genetic testing, directly after counselling on either positive or negative test results, and six weeks thereafter.Results: No significant differences were found between the group that received a genetic diagnosis for their hearing impairment and the group that did not. Conclusion:This study did not demonstrate differences between receiving a genetic diagnosis or not; however, special attention to psychological well-being should be offered to hearing-impaired patients who seek a genetic diagnosis for their hearing impairment. Additionally, the psychological impact of sensorineural hearing impairment might be greater than the impact of a genetic diagnosis itself. Based on the current exploratory study, there are no psychological reasons in favour of or against genetic testing for hereditary hearing impairment.

Comprehensive medical evaluation of pediatric bilateral sensorineural hearing loss

“… 50 There are also ethical and social concerns with genetic testing, including the psychological impact on the patient and the family, medical implications for family members, and the potential for discrimination relating to employment and insurance. 51 , 52 Genetic testing does not always identify the etiology, or it may identify variations of unknown significance (VUS), particularly when WGS or WES is used. Furthermore, follow‐up is recommended when there are VUSs, because features related to certain mutations may become more apparent as the child grows, at which point additional testing may be indicated.…”