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. Genet Med 2009:11(4):248 -255.

Are There Cultural Differences in Parental Interest in Early Diagnosis and Genetic Risk Assessment for Autism Spectrum Disorder?

“…This observation is consistent with previous findings showing the importance of physicians referral in accessing genetics services for children with ASD (51); ASD, Down syndrome and/or mental retardation (52); or hearing loss (53). However, little information is available in the literature about healthcare provider’s attitudes toward genetic testing.…”

Underutilization of Genetics Services for Autism: The Importance of Parental Awareness and Provider Recommendation

“…Other studies have highlighted elements contributing to the utilization of genetics services for condition other than ASD. In the case of childhood onset hearing loss, a supportive pediatrician and benefits to the child/family were found to be associated with higher utilization rates (Palmer et al 2009). In studies on breast cancer, awareness, risk perception, knowledge, perception of benefits and worry were reported as factors related to utilization (Lerman et al 2002;MacNew et al 2010;Press et al 2001).…”

“…Parents' understanding of the genetic contribution to ASD and familiarity with other individuals who have a diagnosed genetic etiology for ASD (Kinney et al 2010;Lerman et al 2002;Riedijk et al 2005;Simon and Petrucelli 2009), in addition to parents' own distress and anxiety surrounding their child's condition, might also play a role (Lerman et al 2002;Lerman et al 1997;Meiser 2005;Thomas et al 2007). Lastly, it is possible that nongenetics providers are infrequently suggesting genetics services to their patients with ASD, and/or are under referring these patients for evaluation and counseling (Kogan et al 2008;Krauss et al 2003;McGrath et al 2009;Palmer et al 2009).…”

Access to genetic testing and genetic counseling in vulnerable populations: the d/Deaf and hard of hearing population

“…According to a study by Burton et al (2006), Deaf adults expressed a positive motivation to seek genetic testing to clarify their own selfidentity and to prepare for future children. As well, parents of deaf children may avail of the results of a positive genetic test for deafness as it provides accurate information about the cause of deafness and about other medical implications, as well as providing an estimate of the chance of reoccurrence in other children (Palmer et al 2009). A confirmed genetic etiology of deafness can benefit siblings of deaf individuals as well, as they may be interested to know whether they carry a gene for deafness, and this may influence their family planning options (Smith and Hone 2003).…”