Clinicians’ Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss

Abstract

Exome sequencing (ES) is an effective method for identifying the genetic cause of hearing loss in infants diagnosed through newborn hearing screening programs. ES has the potential to be integrated into routine clinical care, yet little is known about the experiences of clinicians offering this test to families. To address this gap, clinicians involved in a clinical study using ES to identify the cause of infants’ hearing loss were interviewed to explore their experiences with offering and returning results to parents. Interview transcripts were analysed using inductive content analysis. Twelve clinicians participated: seven genetic counsellors, four clinical geneticists, and one paediatrician. Most clinicians were supportive of offering ES to infants with hearing loss, primarily because results may inform the child’s clinical management. However, some expressed concerns, questioning the utility of this information, particularly for isolated hearing loss. Clinicians had differing views regarding the optimal time to offer ES to families; while some felt that families can manage everything at once, others recommended delaying testing until parents have come to terms with their child’s diagnosis. These findings show the complexity involved in determining how ES should be offered to families following the diagnosis of a child with hearing loss, particularly with regards to when testing is suggested.

Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

“… 50 The feeling of being overwhelmed is likely to be exacerbated by the fact that they have a new baby, particularly if this is their first child. 51 As such, follow-up appointments should be made to ensure families feel adequately supported and have opportunities to ask questions and clarify information once they have had time to get over the initial shock. It should be noted that existing NBS programs already have good structures in place to support families who receive a diagnosis.…”

“…50 The feeling of being overwhelmed is likely to be exacerbated by the fact that they have a new baby, particularly if this is their first child. 51 As such, follow-up appointments should be made to ensure families feel adequately supported and have opportunities to ask questions and clarify information once Parents should also be informed of the other potential implications that result from the diagnosis, such as the potential for them to be carriers of the condition, depending on the condition's mode of inheritance, and the implications and what this means for their reproductive options in the future to potentially avoid having another affected child if they wish. The potential for cascade carrier testing in relevant blood relatives should also be mentioned.…”

Multidimensional Family-Centred Early Intervention in Children with Hearing Loss: A Conceptual Model

“…There are also possible disadvantages of genetic testing, especially when offered early after HL diagnosis. Parents may still struggle to cope with the recent HL diagnosis and the family system may be irritated and stressed [ 169 ]. In addition, genetic testing results may also be potentially harmful, depending on the characteristics and roles of the genes involved, the family situation and clinical relevance of the genetic factors.…”

Special Issue “Early Intervention for Hearing Loss in Children: Drafting from Theory to Clinical Practice”

“…The retrospective chart analysis by Minami et al [ 5 ] examines the results of newborn hearing screening in individuals with congenital cytomegalovirus (cCMV) associated hearing loss and demonstrates high risk of missing this condition through newborn hearing screening. Consequently universal cCMV screening is recommended.…”

“…Identification of the genetic cause of hearing loss has become common in Western countries. Notini et al [ 5 ] present a collection of clinicians’ experiences and views with offering and returning results from exome sequencing to parents of infants with hearing loss. Whereas most clinicians are supportive of exome sequencing for children with hearing loss some of them doubt the utility of this information in case of isolated hearing loss.…”