Factors influencing parental decision about genetics evaluation for their deaf or hard-of-hearing child

Abstract

Purpose: To identify factors that are associated with why parents of deaf children who have had GJB2/GJB6 testing as part of a genetics research study do or do not take their children for genetics evaluation.

Methods: Self-administered questionnaire was completed by parents of a deaf child participating in a GJB2/GJB6 testing study.

Results: A total of 30 parents (representing 24 children) completed the questionnaire; 11 of 24 children (46%) underwent a genetics evaluation. Compared with parents who did not take their child for a genetics evaluation, those who did were more likely to (1) have supportive pediatricians, (2) feel it was important or would be helpful to their child, (3) recall the recommendation for evaluation, (4) have family members who wanted the child to have an evaluation, and (5) be Hispanic or Asian. Genetic test results, knowledge of genetics evaluation, psychosocial factors, language concerns, or structural factors were not substantively associated with attending a genetics evaluation.

Conclusion: Parental perceptions, family environment, and pediatricians play a role in decisions regarding genetics evaluation. Because genetic testing for deafness likely will occur outside of traditional genetics clinics and without comprehensive genetics evaluation, efforts to increase pediatricians' awareness of the usefulness of genetics evaluation may be essential to ensure appropriate care for deaf and hard-of-hearing children as recommended by the American College of Medical Genetics.