Despite recommendations for genetics evaluation and counseling for all children with confirmed deafness 14
, a significant percentage of children do not undergo evaluation 22
. The purpose of this study was to identify factors that are associated with why some parents pursue genetics evaluation for their deaf or hard-of-hearing child and others do not. The participants of the UCLA Genetics of Hearing Loss study serve as a model for the increasingly common scenario of parents whose children receive genetic testing for deafness outside of a standard clinical genetic setting, followed by a recommendation for a clinical genetics evaluation and counseling.
The findings from our study suggest that compared to 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 a genetics evaluation, 4) have family members who wanted the child to have an evaluation, and 5) have Asian or Hispanic background. In addition, qualitative data suggests that parents who took their child for a genetics evaluation were more likely to report that their child has multiple anomalies. Although the survey response rate was low, the study sample was found to be representative of the larger Genetics of Hearing Loss sample from which it was drawn on a variety of demographic, audiologic, and genetic indices, thereby increasing the credibility of these findings.
The importance of parental perceptions and pediatrician support in facilitating genetics evaluation for deaf children was recently reported 27
, and our results suggest that this is a robust finding that should be considered when developing strategies to increase uptake of genetics evaluations for deaf children. Although not previously reported, it is not surprising that parents of children with multiple malformations are more likely to seek genetics evaluation as clinical genetics has traditionally evaluated children with anomalies. However, the recommendation for genetics evaluation of deaf children is not limited to those with multiple anomalies, and perhaps greater awareness of the utility of genetics evaluation for apparently non-syndromic deaf children is needed.
Ethnic differences in parental perceptions of genetic testing for deafness have been observed previously35
, where parents of Asian or Hispanic background were more likely than Caucasian parents to view genetic testing in terms of helping with their child’s medical care. In this study, we observed a similar phenomenon in which parents of Asian or Hispanic background were more likely than Caucasian parents to take their child for a genetics evaluation. Further examinations revealed that the ethnic differences were not explained by differences in frequencies of multiple anomalies or GJB2/GJB6
result, suggesting instead that ethno-cultural differences may play a role in views about medico-genetic information. Similarly, the social and family context has been shown to influence decisions regarding prenatal and presymptomatic genetic testing 38, 39
, and this study extends these findings to suggest that the family also plays some role in influencing parents’ decisions regarding genetic evaluation for deafness.
Parents in this sample had a generally good understanding of what takes place during a genetics evaluation and their level of understanding was not substantively associated with their decisions to take their child for genetics evaluation. The two parental groups also did not substantively differ on potential psychosocial aspects associated with a genetics evaluation, nor did they have concerns about possible language barriers, suggesting that components of genetic counseling such as communication, risk assessment, and handling potentially uncomfortable information, neither facilitate nor hinder decisions about genetics evaluation for their child. Finally, structural factors such as access to a genetics clinic, a reliable method of transportation, or presence of health insurance were not problematic for parents in this sample and were not significantly associated with parental decision regarding genetics evaluation. Although the two parental groups differed weakly in terms of whether or not the health insurance would cover a visit to a genetics clinic, this difference appears to be explained by a lack of investigation on the part of those who did not take their child for a genetics evaluation rather than denial by the health insurance company.
This study has several limitations and so generalizing our findings should be done with caution. First, this is a very small study, with a relatively low response rate. Although the current study sample is representative of the larger group from which it was drawn, the small sample size yields limited power to identity additional variables associated with whether or not parents take their child to a genetics clinic. Second, although ethnically diverse, the socioeconomic and educational status of the participants was generally high, and this may explain why logistical factors and language did not seem to be particular impediments to attending the genetics clinic. Additional studies with larger and more socioeconomically diverse samples may help to further illuminate barriers to, and facilitators of, genetics evaluation. Third, it is important to bear in mind that all of the parents in this study were able to participate in a larger study on genetic testing and were counseled by a genetic counselor regarding the importance of genetics evaluation.
Algorithms have been proposed that recommend GJB2
testing as the first step in the evaluation of an apparently nonsyndromic deaf/hard of hearing child because a positive result eliminates the need for other medical tests 14, 40
. It is currently unclear whether GJB2
testing, along with pre- and post-test counseling, primarily will take place within or outside of a genetics clinic. However, it seems likely that non-genetics professionals such as pediatricians, otolaryngologists, and audiologists will play a large role in first-tier genetic testing due to the limited number of genetics professionals and the fact that parents of a deaf/hard of hearing child will have early and repeated contact with these healthcare professionals. When genetic testing takes place outside of a genetics clinic, it would seem logical that parents who receive a positive GJB2
result would remain within their primary care setting while those who receive a negative or inconclusive result would be referred for a genetics evaluation. A potential advantage of this step in the evaluation algorithm is that it would focus the limited genetics workforce on children with possibly less straightforward etiologies of their deafness, including syndromic forms of deafness, where clinical and family history data may be required to determine the best course of action. However, genetic testing is different from other routine testing, and raises a number of complex issues including the technicalities of genetic testing, the language of genetics, the relevance to other family members, and reproductive issues 14, 22
. In order for this triage step to be successful, non-genetics professionals need to understand and convey the complexities and subtleties of genetic information. However, recent studies raise concerns about non-geneticists’ understanding of genetic information (positive and
negative results) and their implications 22, 41
, illustrating a current limitation to this step in the algorithm. Possible solutions to this limitation include increasing the level of understanding of genetic information among non-genetics professionals and including genetic counselors within these non-traditional genetics settings, as has happened in other non-traditional genetics settings such as oncology. Given current limitations, empirical data are needed to determine if the potential advantages of focusing genetics referrals only on deaf/hard of hearing children with non-GJB2
etiologies outweigh the potential benefits of genetics referral for all parents of a deaf/hard of hearing child regardless of GJB2
results. Interestingly, in the current sample, the ability of prior GJB2/GJB6
testing to explain their child’s deafness did not appear to play a role in subsequent parental decision about genetics evaluation. This result provides empirical evidence that genetics evaluation can be perceived as important to parents regardless of the genetic test result and that genetics clinics should expect to counsel some parents whose children have received a genetic explanation for the deafness outside of traditional genetics clinics.
In closing, the importance of the pediatrician regarding genetics evaluation for deaf children has now been observed in two studies. Although referral is an important factor in facilitating genetics evaluation, the overall pediatrician referral rate appears to be low (4 of 24 families (~17%) received a referral in the current study; 24% in Powell et al27
), and one contributing factor may be poor understanding of the benefits and purposes of genetic evaluations or the inability to adequately convey this information to parents 27
. Our study suggests that efforts to educate pediatricians about the role of genetics evaluation for deaf children may be essential to ensure appropriate care for deaf or hard-of-hearing children as recommended by the American College of Medical Genetics.