This cross-sectional survey provides important insights into the knowledge of and attitudes towards including genes associated with NSHL in RGCS among genetic clinicians, general practitioners, reproductive care specialists and hearing clinic HCP. Whilst a majority of all clinicians responding to the survey agree that genes associated with NSHL should be included in RGCS, there were significant concerns expressed, including the availability of reproductive options for avoiding the birth of children with deafness and the possibility that inclusion of NSHL-linked genes would express a discriminatory attitude to those living with deafness.
Our sample is unique because it captures HCP across different disciplines who may be involved with ordering RGCS, discussing results and/or managing children with NSHL. The greatest divergence was between HCP working in a hearing clinic and genetic HCP. Whilst all clinicians were familiar with deafness and had provided care on some level for patients with moderate to profound hearing loss the genetic HCP were least likely to agree that it is a serious disability. Although both genetics HCP and HCP working in hearing clinics see children with severe conditions, the mix is likely to be different, with genetics HCP spending a greater proportion of their time with more severely affected patients. This may be a partial explanation for this difference between the groups. This result highlights the subjectivity of HCP’s attitudes, based on their comparative exposure/experience of illness and disability. The views of experienced HCP of the impact of NSHL on the physical and mental development of children varied widely. For example, the hearing clinic HCP were more likely to perceive deafness as having a significant impact on the mental development of children than genetic HCP. Thus, achieving any consensus for policymaking is likely to be difficult. In line with this, it has been demonstrated that genetics professionals do not always concur about the seriousness of genetic conditions (22, 23). There is a spectrum of opinions rather than a clear division and basing RGCS policies on clinician views alone would be challenging and could complicate implementation of population wide RGCS.
The questionnaire results demonstrate the difficulties in attempting to define the severity of NSHL. This is significant for RGCS as it is often genetic (1, 24) and reproductive care HCP (1, 5, 24) who have been involved in writing the recommendations and guidelines for which conditions to include in screening. As most people undergoing RGCS will not have a lived experience of deafness, they rely on the expertise of those who choose the conditions to be included in RGCS. Consumers will have an expectation that information gained from screening will be useful to them. As demonstrated by our findings, there is no consensus on the perception of severity of moderate to profound deafness between different HCP groups. Deafness has previously been classified as a moderately severe condition (7, 9, 13) but was excluded from a recently published extended RGCS gene panel used in Australia with some of the view that these genes should be included and others of the opposite view (1). We found that whilst most respondents consider deafness to be a serious health condition, they also think that the available medical care means it need not have a significant impact on overall quality of life. Although severity is not the only criterion used by policy makers in RGCS program design, it will always play a role.
The importance of considering the perspective of those with a personal experience of deafness was also expressed here, but only by genetic HCP who, based on their training, recognise that deafness can be experienced differently by individuals and their families and that these diverse perspectives should be included in any decision about selecting conditions for RGCS. Empirical research reveals that people who live with genetic conditions and their families often have views on the severity of their condition that differ significantly compared to those not familiar with the lived experience of the condition (25). Whilst clinician views have often been prioritised in selecting which genes to include in RGCS, there is a growing body of evidence recognising the importance of the patient’s perception of the seriousness of a condition (26).
Offering screening for a genetic condition sends an implicit message that there are valid reasons for avoiding the birth of a child with that condition, or that knowing about the condition prenatally can be beneficial for clinical management. Some respondents in this study were concerned that inclusion of genes associated with NSHL in RGCS expresses a discriminatory attitude towards those living with deafness. This is not the only study to raise potential for harm from the use of genetic technologies for deafness in the reproductive setting, threatening the future of the Deaf community with the loss of a form of cultural diversity (27–29). Studies of individuals who are deaf and of hearing people who have indirect experience of deafness (children of deaf adults and parents of deaf children) show that they may feel that genetic testing for deafness in the reproductive setting expresses a negative view of deafness (29–31).
Whilst some HCP expressed concerns about the inclusion of NSHL genes they also identified benefits, such as providing parental choice through informed decision making. Providing education about the screening test and the included conditions is paramount for individuals to be able to make an informed decision. As evidenced in this study it may prove difficult to include deafness in a statement that informs prospective parents that RGCS will screen for serious, childhood onset conditions.