Views of healthcare professionals on the inclusion of genes associated with non-syndromic hearing loss in reproductive genetic carrier screening

DOI: https://doi.org/10.21203/rs.3.rs-1726721/v1

Abstract

Genes associated with non-syndromic hearing loss (NSHL) are frequently included in panels for reproductive genetic carrier screening (RGCS), despite a lack of consensus on whether NSHL is a condition appropriate for inclusion in RGCS. We conducted a national online survey using a questionnaire to explore the views of clinicians who facilitate RGCS or provide care to deaf individuals in Australia and New Zealand regarding the inclusion of such genes in RGCS. Results were analysed descriptively, and thematic analysis of free-text responses was performed. The questionnaire was completed by 386 respondents including genetic healthcare providers, obstetricians, ear nose and throat specialists and general practitioners. The majority of respondents agreed that genes associated with NSHL should be included in RGCS, but there were differences between the groups. 74% of clinicians working in a hearing clinic agreed these genes should be included compared to 67% of genetic healthcare providers, 54% of reproductive care healthcare providers and 44% of general practitioners. A majority of respondents agreed that moderate to profound deafness is a serious disability, although genetic healthcare providers were less likely to agree than other groups. Overall, respondents recognised that including NSHL upholds prospective parents’ right to information. However, they also identified major challenges, including concern that screening may express a discriminatory attitude towards those living with deafness. They also identified the complexity of defining the severity of deafness.

Introduction

Advances in testing technology have made it possible to include large panels of genes in reproductive genetic carrier screening (RGCS). Deciding which genes to include in RGCS is a complex issue, but there is general acceptance that the intent is not to identify prospective parents who have an increased chance of having a child with a mild condition. There is general agreement that conditions should only be included in a RGCS panel if there is a well-defined phenotype with onset early in life, and meet criteria in relation to severity (14). Whilst there is no guideline on conditions to include in screening, several groups have considered conditions appropriate for inclusion if they meet some or all of a list of clinical criteria including shortened life expectancy, cognitive impairment, physical disabilities or a requirement for burdensome treatment (5, 6). Screening for such conditions enables prospective parents to make informed reproductive decisions to avoid or prepare for the birth of a child with the condition.

The inclusion of mild and/or variable conditions is contentious, in part because this information may not be as useful for reproductive decision-making (79). There is no consensus definition of disease severity and groups have made varying judgements about whether conditions are severe enough to include in screening. At a societal level, offering screening for a genetic condition may send a message that consideration of reproductive options to avoid the condition is appropriate (10). Programs that screen for a large number of conditions, not all considered severe, have been subject to criticism as they can be perceived to express a discriminatory attitude towards those who live with the condition (11, 12).

One condition that has been controversial in its inclusion is non-syndromic hearing loss (NSHL) (1). It is noted that 18/23 commercial RGCS panels include GJB2, the gene most commonly associated with autosomal recessive NSHL (1). Despite the inclusion of GJB2 on many RGCS expanded panels, attitudes towards screening for NSHL in the general ‘low-risk’ population remain unclear. Data on the reproductive choices made by couples at increased chance of having a child who would be deaf are limited but it has been reported that some have used preimplantation genetic testing or prenatal diagnosis to avoid having a child who is deaf, whilst others have not altered their reproductive plans (13).

Hearing loss is the most common neurosensory deficit in children in developed countries and creates challenges to development and quality of life for affected individuals (14). Early diagnosis and intervention, however, have been shown to reduce developmental challenges and enhance quality of life for children who are born deaf (15). For this reason, newborn hearing screening has been widely implemented and proven successful at identifying babies with moderate-to-severe hearing loss (16). Autosomal recessive causes of NSHL are common with approximately 1 in 50 individuals being carriers of a pathogenic variant in GJB2, meeting the frequency criterion for RGCS in the recent American College of Medical Genetics practice guideline (5).

As RGCS is potentially relevant to anyone planning a pregnancy or in early pregnancy, most people accessing RGCS will not have lived experience of a condition. There is a reliance on, and trust in, the decision-makers who choose which conditions are included in RGCS panels as consumers will have an expectation that information gained from screening will be useful to them (17). The broader implications of the inclusion of each condition need careful consideration and consultation. Although public policy on RGCS should not be based solely on the clinical perspectives, it is prudent to consider the views of those who will be discussing RGCS with prospective parents and clinicians who provide care for deaf children.

Despite its importance, there is currently little knowledge of the attitudes of healthcare professionals (HCP) towards RGCS for NSHL. This study sought to understand the views of HCP on the inclusion of NSHL in RGCS and their attitudes toward the severity of NSHL as a health condition. The study looked at NSHL as an exemplar of moderate or mild health conditions that may be considered for inclusion in RGCS.

Methods

Survey Development

The survey was developed to explore the views of HCP on inclusion of genes for NSHL in RGCS and was exploratory rather than hypothesis driven (S1). In addition to demographic questions and knowledge questions, eight agree-disagree statements were designed to assess the key issues in the inclusion of genes associated with NSHL in a population-wide RGCS program. A consumer representative and several HCP providing reproductive care and care for those with hearing loss were consulted in preparing the questionnaire. The survey collected data on (1) knowledge and experience of NSHL and RGCS; (2) attitudes to inclusion of NSHL in RGCS, and (3) views on the impact of deafness on a child. The survey was approved by the Sydney Children’s Hospital Network Human Research Ethics Committee, pilot tested with three genetic counsellors and distributed (between November 2020 and October 2021) via HCP organisations. It took between approximately 10 minutes to complete.

Survey Recruitment

HCP were recruited using two approaches:

  1. Genetic HCP (genetic counsellors and clinical geneticists) were recruited through the Australasian Society of Genetic Counsellors and the Human Genetics Society of Australasia; obstetricians and gynaecologists (including registrars and fertility specialists) through the Royal Australian and New Zealand College of Obstetricians and Gynaecologists; HCP working in hearing clinics (including ear nose and throat specialists and paediatricians) through the Childhood Hearing Australasian Medical Professionals Network and the Australasian Newborn Hearing Committee; and general practitioners through several webcasts organised by HealthEd, a private medical education company that organises seminars and learning resources for GPs. The webcasts covered topics unrelated to NSHL or RGCS.

  2. Dissemination through directors of hearing support clinics across Australia to snowball the invitation to professionals in their network likely to work with children who are deaf.

Governing bodies did not permit a direct recruitment approach to organisation membership. As a result, the number of HCP in each group who received the invitation (i.e. the denominator) is unknown.

Statistics and data analysis

Survey data were collected, stored and managed in Research Electronic Data Capture Version 10.0.1 (20) hosted at the University of New South Wales. Descriptive statistics were computed for all items. Respondents were grouped for analysis using medical field of practice (genetic HCP; reproductive care HCP; general practitioner; and hearing support HCP). Statistical analysis was performed using IBM Statistical Package for the Social Sciences software (SPSS version 23.0, SPSS Inc., Chicago, IL). Categorical data were reported as frequencies and percentages with differences assessed by chi-square values. Statistical significance was assessed at p<0.05.

Respondents were asked one open-ended question on the topic and the free text answers were separated according to professional group in Excel (Microsoft). Thematic analysis (21) was used to interpret the free text comments, and coding resulted in themes relating to the inclusion of NSHL in RGCS. Coding and analysis were checked by LF, MD and EK until consensus was reached.

Results

A total of 386 health professionals completed the questionnaire. Participant information was provided at the start of the survey, and informed consent was implied by voluntary completion of the survey. The majority of participants identified as female (N = 271, 69%). Across all professions, 14% (N = 54) had worked less than five years, 45% (N = 174) had worked between six and twenty years, and 41% (N = 174) had worked in their profession for over 20 years. HCP were grouped into fields of practice to allow for comparison of professions. These were (i) Genetic HCP (N = 94; Genetic counsellors and clinical geneticists); (ii) Reproductive care HCP (N = 153; Obstetricians, gynaecologists, obstetric trainees); (iii) General practitioners (N = 103) and (iv) Hearing support staff (N = 34; audiologists, ENT specialists, neonatologists, paediatricians and newborn hearing coordinators) (see Table 1).

The majority of respondents, N = 319 (83%), have ordered RGCS for their patients and the majority (N = 303, 79%) intend to order RGCS for patients in the future.

Perceptions of childhood bilateral moderate-to-profound deafness

Overall the majority of respondents (69%, n = 296) agreed that moderate-to-profound deafness is a serious disability and only 9% (n = 34) of respondents disagreed with this statement (see Fig. 1). Attitudes on whether moderate-to-profound deafness is a serious disability were significantly different between the groups of HCP (p < 0.05). The genetic HCP overall were less likely to agree that deafness is a serious disability.

Whilst the majority in all HCP groups disagreed that being deaf has little impact on a child’s physical and mental development there was a significant difference between the HCP groups (p < 0.05). The genetic HCP and the hearing clinic HCP were more likely to agree that deafness has little impact on a child’s growth and development, but this was not observed in relation to the impact of deafness on a child’s mental development, with the hearing clinic HCP more often disagreeing that deafness had little impact on a child’s mental development. Across all HCP, 21% of respondents (N = 82) agreed that deafness has very little impact on a child’s growth or physical development whilst only 13% (N = 52) agreed that it has very little impact on a child’s mental development.

Responses to the statement about deafness being a disadvantage rather than a disability were more divided, with 37% (N = 140) of participants agreeing that it is a ‘disadvantage but not a disability’ while 43% (N = 160) disagreed with this statement. The majority across all HCP groups (77%, N = 296) agreed that there are good treatment and management options for children who are deaf with only a very small number (4%, N = 14) disagreeing with this statement.

Attitudes to including non-syndromic hearing loss in RGCS

Overall, the small majority of all respondents (55%, N = 213) agree that deafness should be included in RGCS with the remainder mostly unsure (32%, N = 125) rather than unsupportive (12%, N = 48) (see Fig. 2). There was a significant difference (p = 0.004) between the groups on the issue of whether genes for NSHL should be included in RGCS. The hearing clinic HCP were more likely to agree (67%; N = 25) that they should be included compared to genetic HCP (67%; N = 63), reproductive care HCP (52%; N = 80) and general practitioners (44%; N = 45). However, a very small proportion of hearing clinic HCP (3%) and less than 15% of the other HCP groups disagree with this statement and do not support inclusion of the genes for NSHL in RGCS

Most participants (79%, N = 304) agree that couples in the general population would want to know about their chances of having a deaf child. Similarly, most respondents, 86% (N = 331) agree that couples should be able to choose whether to learn about their chances of having a deaf child.

The majority (57%; N = 220) disagree with the statement that deafness is not a condition that warrants consideration of reproductive choices.

Whilst only a minority of all HCP agree that deafness does not warrant consideration of reproductive options, there was also a significant difference when comparing across all HCP groups (p = 0.016). Genetic HCP were much more likely to disagree with this statement, i.e. to support the idea that deafness is a condition that warrants consideration of reproductive choices.

Analysis shows no significant correlations between the responses and how often a clinician provides clinical care for a deaf patient.

Thematic analysis

Although the quantitative responses indicated strong support for including NSHL in RGCS, there was considerable nuance in the free text comments highlighting implementation challenges that are both principled and practical in nature. Free text responses were received from 122 HCP (32%). These were analysed for common patterns and further abstracted into several themes representing both concerns and benefits of including genes associated with NSHL in RGCS.

Five major themes emerged from the free text comments in this survey: (1) Parental choice is facilitated through informed decision making, (18) inclusion of NSHL in a RGCS panel is akin to eugenics and also expresses a discriminatory attitude to those living with deafness, (19) defining the severity of deafness is complex, (4) need for wider consultation on this topic with people who have a lived experience of deafness, (5) there should be consideration of limitations on the reproductive decisions available to prospective parents after screening for NSHL. Quotes are shown to illustrate these themes. Whilst the complexity of defining the severity of deafness was a theme represented across all HCP groups, the other themes were identified in specific HCP groups as seen in Box 1.

(1) Parental choice is facilitated through informed decision making

Most of the genetic HCP advocated for inclusion of genes associated with NSHL into a wider RGCS panel based on giving prospective parents the information to make their own informed choice. However, some respondents were uncertain how NSHL-linked genes could be included even as an optional test even with a separate process of consent. Genetic HCP were more likely to comment on the need to provide information and choice to prospective parents.

I strongly believe in a couple's right to informed decision making - both regarding choosing whether to include deafness on their carrier screening test, and their right to reproductive decision making on the basis of that information.Genetic Counsellor

If screening identifies a risk of hearing loss couples can choose to ignore it whilst others can choose to act on it but to remove the choice is unfair.Genetic Counsellor

(2) Inclusion of NSHL in a RGCS panel is akin to eugenics and can also express a discriminatory attitude to those living with deafness

GPs and reproductive care HCP were more likely to raise concerns that align with both the eugenics critique and the ‘expressivist’ critique of including NSHL in RGCS. Comments highlighted a concern that to include NSHL in RGCS would express a discriminatory attitude to those living with deafness and that prospective parents should not be able to select the type of future people that will be born. This tension was further expanded on by respondents who believe that deafness is not a condition for which termination of pregnancy is warranted.

Developments in modern medicine do throw up ethical challenges - don't want to see a type of eugenics practised in Australia.GP

Population based carrier screening for any condition, whether associated with mild to severe disability, casts the condition and persons affected by the condition in a particular, usually negative, light. further [it] is highly discriminatory and derogatory towards those persons affected by those conditions.GP

Genetic HCP were more likely to provide a comment on the aspect of routinisation; if NSHL is included, prospective parents may feel obliged to follow a path of further testing.

Offering testing for deafness reinforces or provides a perception that deafness is a problem that needs to be eliminated.Genetic Counsellor

I worry that prospective parents will feel pressure to use prenatal testing or PGD to exclude deafness because it is included in carrier screening tests.Genetic Counsellor

(3) Defining the severity of deafness is complex

Many respondents raised the issue of the complexities associated with defining how severe deafness is as health condition or disability. Whilst they acknowledged the multitude of factors involved (socio-environmental context, cultural differences) they also acknowledged that the perception of severity is based on personal experiences and that this can vary greatly.

Congenital non-syndrome deafness has the potential to be a serious disability with deleterious effects on mental development but if the baby is identified early, fitted with appropriate amplification and commences hearing early intervention by 6 months of age, they can expect age appropriate communication outcomes for school entry.Paediatrician

“… the difference in perspectives, support systems and values that people and those around them can have, and how this can influence their experience of living with/caring for someone with hearing loss.Genetic Counsellor

… it is difficult to make generalised statements about the quality of life of a deaf child / person.Obstetrician

(4) There is a need for wider consultation on this topic with people who have a lived experience of deafness

Several respondents acknowledged that the views of HCP are not necessarily the most important voice in this discussion and that there is a need for wider consultation with people who have a lived experience of deafness.

I don't feel like I am the right person to say whether or not it should be included. Perhaps asking the Deaf community…Genetic Counsellor

(5) There should be limitations on the reproductive decisions available to prospective parents if NSHL is included in RGCS

Some respondents feel that if screening for NSHL is included the information should be available to facilitate planning and preparing for the birth of a deaf child but not for any decisions to avoid having a deaf child. Others suggested that the information should be constrained to use in preimplantation genetic testing with IVF but not for termination of pregnancy.

I have some concerns about deafness being a sufficient reason to terminate a pregnancy ... Deafness doesn't shorten a lifespan or cause suffering. I don't think terminating a potentially deaf baby is appropriate.General practitioner

Screening would allow planning for early intervention. Screening would allow for [preimplantation genetic testing]. It should not be a part of a plan for abortion.Fertility specialist

It's not enough to terminate a pregnancy over.Obstetrician

Discussion

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 (2729). 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 (2931).

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.

Strengths And Limitations

The study was strengthened by participants’ anonymity, increasing the likelihood of truthful responses. A potential weakness of our study is that the survey has not previously been validated and was exploratory in design. A response bias is possible if individuals with experience of either NSHL or RGCS were more likely to respond to the survey.

The provider population of this study may not be representative of the wider GP or obstetric provider populations due to the relatively low number of respondents. The design of the study allowed for differences in attitudes between the various HCP groups to be observed but did not allow reasons for these differences to be determined.

Conclusion

Our study provides a useful insight into the attitudes of different HCP in Australia towards the inclusion of NSHL in RGCS. It shows that there are mixed views on whether NSHL should be included in RGCS and, if it is included, whether it should be an optional screening test set aside from an expanded panel which focuses on conditions generally considered more severe.

This highlights a need to be cautious if genes associated with NSHL are included on a testing panel without any separate consent process or provision of information specific to the lived experience of NSHL. Further consultation is needed from those with a lived experience of deafness to gain a deeper and more comprehensive insight into the benefits and harms of including NSHL in RGCS.

Many of the issues identified in this study are likely to be relevant to other countries and other conditions, particularly if a government funded population wide approach to screening is in place or being considered. The authors are currently conducting further research with other stakeholder groups to explore the attitudes of the general public interested in RGCS and those with a lived experience of deafness towards carrier screening for NSHL, in order to further guide the discussion.

List Of Abbreviations

GJB2 - Gap junction beta 2 gene

NSHL – Non syndromic hearing loss

RGCS – Reproductive genetic carrier screening

HCP – healthcare professional

CODA – Child of deaf adult

PND – Prenatal diagnosis

TOP – Termination of pregnancy

PGT – Preimplantation genetic testing

IVF – In-vitro fertilisation

Declarations

DATA AVAILABILITY STATEMENT

Data analysed during this study are not published but may be available from the corresponding author on reasonable request

ACKNOWLEDGEMENTS

Lucinda Freeman thanks Dr Ramesh Manocha at HealthEd for distribution of the survey and Nancy Briggs for her assistance with statistical analysis.

FUNDING

The work was undertaken under the auspices of the Australian Reproductive Genetic Carrier Screening Project (Mackenzie’s Mission) funded by the Australian Government’s Medical Research Future Fund as part of the Australian Genomics Health Futures Mission {GHFM73390(MRFF-G-MM)}. Lucinda Freeman is the recipient of an Australian Government Research Training Program scholarship.

AUTHOR CONTRIBUTION STATEMENT

LF/MBD/JLS and EK all designed the study. LF collected and analysed the data and drafted the manuscript. All authors contributed to reviewing the manuscript.

ETHICS COMMITTEE APPROVAL

This research study was approved by the Sydney Children’s Hospital Network Human Research Ethics Committee (2020/ETH01583).

COMPETING INTERESTS

The authors declare no competing interests

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Table

Table 1. Demographics of respondents

Demographic

N

%

Sex

 

 

 

Female

267

69%

 

Male

113

29%

 

Prefer not to say

6

2%

Years working in profession

 

 

 

0-5y

54

14%

 

6-10y

72

19%

 

11-20y

102

26%

 

20+y

158

41%

Healthcare Profession

 

 

 

General Practitioner

103

27%

 

Genetics

 

 

 

 

Genetic Counsellors

74

19%

 

 

Clinical Geneticists

20

5%

 

Reproductive Care 

 

 

 

 

Obstetrician

122

32%

 

 

Obstetrician Registrar

11

3%

 

 

Fertility specialist

20

5%

 

Hearing clinic 

 

 

 

 

Audiologist

8

2%

 

 

Neonatologist (running hearing clinic)

2

0.5%

 

 

Newborn hearing screening coordinator

1

0.3%

 

 

Paediatrician

17

4%

 

 

Ear Nose Throat Specialist

6

2%

 

Unknown

2

0.5%

Box

Box 1 is available in the Supplementary Files section.