Consumer Motivations for Pursuing Genetic Testing and their Preferences for the Provision of Genetic Services for Hearing Loss

Genetic services for deafness are being increasingly sought due to the introduction of early hearing detection and intervention programs, as well as the rapid progress in the identification of deafness genes. This study aimed to assess the motivations of consumers for pursuing genetic testing as well as their preferences for provision of these services. We conducted 5 focus groups consisting of hearing parents of deaf children, deaf parents, and unmarried deaf adults. Motivations for pursuing genetic testing included determining the etiology, helping to alleviate the guilt associated with the diagnosis of hearing loss in a child, and acquiring information to help them and other family members prepare for the future. Most participants thought that a genetic counselor/geneticist would be the most appropriate professional to provide genetics services. For culturally Deaf individuals, the communication method was seen as more important than the type of professional. Parents preferred that genetic evaluation, including testing, occur either immediately at or a few months after the audiologic diagnosis of hearing loss.     

“My Plate is Full”: Reasons for Declining a Genetic Evaluation of Hearing Loss

The aim of this study was to obtain patient and parent perspectives on genetic evaluation of hearing loss, in order to identify motivators, expectations, and barriers. Three focus groups were conducted following a semi-structured discussion guide, led by an independent moderator. Participants were hearing parents of children with permanent hearing loss or deaf adults. Qualitative content analysis was used to develop a codebook and identify major themes and subthemes. Participant views were compared to national guidelines. The 28 participants comprised 23 parents representing 21 unique families and 5 deaf adults. 13/21 families and 0/5 adults reported comorbidities, 4/21 families and 3/5 adults had a positive family history, and 12/21 families versus 0/5 adults had utilized genetics services. A common theme among adults and parents was a curiosity as to the cause of hearing loss. Parents were motivated to detect comorbidities and optimize care for hearing loss. Some parents felt overwhelmed by the hearing loss and unprepared to pursue early genetic evaluation as recommended in guidelines. Several reported positive experiences following genetics consultation, while others reported unease and unmet expectations. Notably, both parents and adults expressed ambivalence regarding the desire for genetic knowledge. Financial concerns and difficulties obtaining a referral were cited as extrinsic barriers. For parents of children with hearing loss, both the presence of comorbidities and a positive family history were drivers of genetics consultation and/or genetic testing. We identified educational opportunities for both patients and providers that would improve informed decision-making and increase access to genetic services. Consideration of the patient/family perspective and their decision-making processes, along with flexibility in the approach to genetics evaluation and its timing, will optimize both the development and implementation of guidelines.     

Genetic counseling for deaf adults: Communication/language and cultural considerations

It has been estimated that at least 50% of congenital or early onset deafness loss has a genetic etiology. Genetic services have traditionally been utilized by hearing parents of deaf children. Deaf adults could also greatly benefit from genetic counseling services. However, many deaf adults do not seek genetic services due in part to the communication/language and cultural differences of this group. Deaf people communicate in various ways including the use of sign language, oral communication, writing, or a combination of these modes. Also, while some deaf individuals are part of the hearing culture, others are part of the Deaf culture which has its own language, values, and traditions. Culturally Deaf individuals do not see themselves as handicapped or disabled. The genetic professional's awareness of the communication/language and cultural needs of this group, as well as their agency's responsibilities under section 504 of the Rehabilitation Act of 1973, may increase the accessibility of genetic services and contribute to the provision of successful genetic counseling for deaf adults.Throughout this paper, the term deaf will be used to denote a person who audiologically has a hearing loss which may range from mild to profound and may be sensorineural, conductive, or mixed. However, the term Deaf is used to denote cultural deafness.     

Prenatal Diagnosis for Inherited Deafness—What is the Potential Demand?

Genetic testing for inherited deafness is now available within some genetics centres. This study used a structured questionnaire to assess the potential uptake of prenatal diagnosis (PND) for inherited deafness, and document the opinions of deaf and hearing individuals toward PND and termination of pregnancy (TOP) for hearing status. Participants were self-selected from the whole of the UK, of whom 644 were deaf, 143 were hard of hearing or deafened, and 527 were hearing individuals who had either a deaf parent or child. The results showed that 21% of deaf, 39% of hard of hearing and deafened, and 49% of hearing participants said they would consider PND for deafness. Six percent of deaf, 11% of hard of hearing and deafened, and 16% of hearing participants said they would consider a TOP if the fetus was found to be deaf. Two percent of deaf participants said they would prefer to have deaf children and would consider a TOP if the fetus was found to be hearing.     

Parental Narratives About Genetic Testing for Hearing Loss: A One Year Follow Up Study

Few studies examine whether and how parental attitudes towards genetic testing change over time. In this study we interviewed parents of 14 children with newly identified hearing loss at two time points: after referral to genetics and 1 year later. Qualitative analyses of parental narratives indicate that parental attitudes did not change significantly over this time. Parents who perceived genetic testing to be useful continued to value it after testing, while parents who did not perceive it as being useful for their child’s future held the same view a year later. The only parents who changed their views regarding the usefulness of genetic testing for hearing loss were those who reported that their children underwent significant changes in their hearing loss or were faced with other life threatening conditions. Parents were also often unaware of the role of the genetic counselor and how genetic counseling could help address many of their lingering questions and concerns. These emergent themes indicate the need for geneticists and genetic counselors to be aware of and sensitized to the questions and attitudes that bring parents to a genetic evaluation, as well as the reasons why parents may not follow up with genetic testing for hearing loss when recommended.     

The genetics of deafness

Deafness is an etiologically heterogeneous trait with many known genetic and environmental causes. Genetic factors account for at least half of all cases of profound congenital deafness, and can be classified by the mode of inheritance and the presence or absence of characteristic clinical features that may permit the diagnosis of a specific form of syndromic deafness. The identification of more than 120 independent genes for deafness has provided profound new insights into the pathophysiology of hearing, as well as many unexpected surprises. Although a large number of genes can clearly cause deafness, recessive mutations at a single locus, GJB2 or Connexin 26, account for more than half of all genetic cases in some, but not all populations. The high frequency may well be related to the greatly improved social, educational, and economic circumstances of the deaf that began with the introduction of sign language 300-400 years ago, along with a high frequency of marriages among the deaf in many countries. Similar mechanisms may account for the rapid fixation of genes for speech after the first mutations appeared 50,000-100,000 years ago. Molecular studies have shown that mutations involving several different loci may be the cause for the same form of syndromic deafness. Even within a single locus, different mutations can have profoundly different effects, leading to a different pattern of inheritance in some cases, or isolated hearing loss without the characteristic syndromic features in others. Most cases of genetic deafness result from mutations at a single locus, but an increasing number of examples are being recognized in which recessive mutations at two loci are involved. For example, digenic interactions are now known to be an important cause of deafness in individuals who carry a single mutation at the Connexin 26 locus along with a deletion involving the functionally related Connexin 30 locus. This mechanism complicates genetic evaluation and counseling, but provides a satisfying explanation for Connexin 26 heterozygotes who, for previously unknown reasons, are deaf. A specific genetic diagnosis can sometimes be of great clinical importance, as in the case of the mitochondrial A1555G mutation which causes gene carriers to be exquisitely sensitive to the ototoxic effects of aminoglycosides. This potentially preventable genetic-environmental interaction was the most common cause of genetic deafness in countries where these antibiotics were used indiscriminately in the past. Advances in genetic knowledge along with the use of cochlear implants have posed unique ethical dilemmas for society as well as the deaf community. Since most deaf children are born to hearing parents, it seems likely that deaf culture, and intermarriages among those born with deafness will recede during this century. Will future critics view this as one of the medical triumphs of the 21(st) Century, or as an egregious example of cultural genocide? On the other hand, genetics can provide empowering knowledge to the deaf community that for the first time can allow many deaf couples to know whether their children will be hearing or deaf even before they are conceived.     

Attitudes to Genetic Testing for Deafness: The Importance of Informed Choice

With recent progress in the identification of genes for deafness, it is highly likely that genetic testing, including pre-natal testing, for deafness will become more widely available. In a context where there are concerns about pre-natal testing, and where many in the Deaf community contest the understanding of deafness as a disability, it is important to examine the attitudes of Deaf/deaf people toward genetic testing. This qualitative study employed in-depth interviews to investigate the views about genetic testing for deafness of 19 participants, who were identified as functionally deaf or hearing impaired, or as belonging to the Deaf community. The key findings are that participants were generally supportive of genetic testing for deafness but only when full information about all relevant aspects of deafness is given to prospective users of genetics services. Participants emphasized informed choice, stating that information about medical and technological options for deaf people should be provided, together with information about communication, education, and the experience of being deaf. Although there was less support for pre-natal diagnosis and termination of pregnancy for deafness, most participants nonetheless felt that individual choice was important and that pre-natal diagnosis should be made available to those who wanted to use it.     

Metacognitive development of deaf children: lessons from the appearance-reality and false belief tasks

'Theory of mind' development is now an important research field in deaf studies. Past research with the classic false belief task has consistently reported a delay in theory of mind development in deaf children born of hearing parents, while performance of second-generation deaf children is more problematic with some contradictory results. The present paper is aimed at testing the metacognitive abilities of deaf children on two tasks: the appearance-reality paradigm designed by Flavell, Flavell and Green (1983) and the classic false belief inference task (Wimmer & Perner, 1983; Hogrefe, Wimmer & Perner, 1986). Twenty-eight second-generation deaf children, 60 deaf children of hearing parents and 36 hearing children, aged 5 to 7, were tested and compared on three appearance-reality and three false belief items. Results show that early exposure to language, be it signed or oral, facilitates performance on the two theory of mind tasks. In addition, native signers equal hearing children in the appearance-reality task while surpassing them on the false belief one. The differences of performance patterns in the two tasks are discussed in terms of linguistic and metarepresentational development.     

Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session

Given the medical and cultural perspectives on deafness it is important to determine if genetic counselors’ attitudes toward deaf people can affect counseling sessions for deafness genes. One hundred fifty-eight genetic counselors recruited through the National Society of Genetic Counselors Listserv completed an online survey assessing attitudes toward deaf people and scenario-specific comfort levels discussing and offering genetic testing for deafness. Respondents with deaf/Deaf friends or who work in prenatal or pediatric settings had more positive attitudes toward deaf people than those without deaf/Deaf friends or those working in ‘other’ settings. More positive attitudes toward deaf people correlated with higher comfort level talking about genetic testing for the two scenarios involving culturally Deaf clients; and correlated with higher comfort level offering genetic testing to culturally Deaf clients wishing to have a deaf child. Attitudes and comfort level were not correlated in the scenarios involving hearing or non-culturally deaf clients. These results suggest that genetic counselors’ attitudes could affect information provision and the decision making process of culturally Deaf clients. Cultural sensitivity workshops in genetic counseling training programs that incorporate personal interactions with culturally Deaf individuals are recommended. Additional suggestions for fostering personal interactions are provided.     

Ethnic Differences in Parental Perceptions of Genetic Testing for Deaf Infants

As genetic testing becomes an integral part of the evaluation of deaf infants and children, it is important to understand parental views on genetic testing. The purpose of this study is to examine parental reasons for, and beliefs about, genetic testing for deafness in early-identified infants, and to determine if they differ as a function of ethnicity. We present baseline data collected from 56 Caucasian, 59 Hispanic, and 24 Asian parents of deaf children participating in a longitudinal, prospective study on genetic testing for connexin-related deafness. The overall finding is that reasons for, and beliefs about, genetic testing for deafness varied as a function of ethnicity. Virtually all parents sought genetic testing to understand why their child is deaf. However, Asian and/or Hispanic parents were more likely than Caucasian parents to view family planning, helping with their child's medical care, and helping the family as other important reasons for testing, and were more likely than Caucasian parents to perceive genetic testing to be useful for these purposes. Asian and Hispanic parents were more likely than Caucasian parents to perceive genetic testing in harmful terms. Genetic testing fulfills a cognitive need for parents to understand why their child is deaf, yet differences in responses suggest that Asian and Hispanic parents may seek testing for other purposes. Understanding different perspectives on genetic testing for deafness will enhance genetic counselors' cultural competence and facilitate the pre-test genetic counseling session.     

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

Reasons for the underutilization of genetics services by families of children with autism spectrum disorders (ASD) are not well understood. We report the identification of factors associated with this underuse. Survey-based study of parents and/or guardians of children with ASD. One hundred fifty-five families completed the questionnaire. Thirty-one of 155 (20%) children had seen a genetics professional. Forty-nine of 154 (32%) children had undergone genetic testing. Parents whose child saw a genetics professional were more likely to 1) Have a primary provider refer for or suggest a genetics evaluation 2) Have asked for a referral, and/or 3) Know another person with a genetic cause of ASD. amilies of children with ASD who have not received genetics services are less aware of their availability and utility. They are also less likely to have their provider recommend a clinical genetics evaluation. Efforts should be taken to increase awareness of both health providers and parents regarding the usefulness of genetics services for ASD.     

Practical Considerations for Counselors Working With Hearing Children of Deaf Parents

Counseling literature has not adequately addressed various experiences encountered by hearing children of deaf adults. Awareness and understanding of these unique experiences would better prepare counselors to work with such clients. The authors review such experiences in the context of Deaf culture and believe such a review will enable the counselor to establish more effective counseling relationships with these children and their deaf parents.     

Deaf and hearing adults' recollections of childhood and beyond

Whereas the average age of earliest reportable personal memory among adults is 3 to 3½, there is considerable individual and group variability in the age of earliest autobiographical memory. Some of the variability is thought to be attributable to differential narrative socialisation. In the present research we tested the hypothesis that by virtue of later exposure to language, individuals born deaf to hearing parents will have earliest memories from later in life, relative to hearing individuals. The average age of single earliest identifiable memory for adults who are deaf and adults who are hearing did not differ. Nevertheless, adults who are deaf were found to have less dense representations of early autobiographical memories and to include in their narrative reports fewer categories of information, including visual-spatial information, relative to hearing adults. Participants' ratings of their memories on a number of dimensions were found to have low utility in predicting the content of autobiographical reports from both early and later in life (i.e., after age 10 years).     

Deaf and hearing adults' recollections of childhood and beyond

Whereas the average age of earliest reportable personal memory among adults is 3 to 3 1/2, there is considerable individual and group variability in the age of earliest autobiographical memory. Some of the variability is thought to be attributable to differential narrative socialisation. In the present research we tested the hypothesis that by virtue of later exposure to language, individuals born deaf to hearing parents will have earliest memories from later in life, relative to hearing individuals. The average age of single earliest identifiable memory for adults who are deaf and adults who are hearing did not differ. Nevertheless, adults who are deaf were found to have less dense representations of early autobiographical memories and to include in their narrative reports fewer categories of information, including visual-spatial information, relative to hearing adults. Participants' ratings of their memories on a number of dimensions were found to have low utility in predicting the content of autobiographical reports from both early and later in life (i.e., after age 10 years).     

Disordered Communication and Grieving in Deaf Member Families

When a deaf child is born to hearing parents, a grieving process is initiated in the parents. Unresolved grieving over their child's deafness often makes it difficult for hearing parents to accept the importance of signing, thus increasing the child's problems — further source of grief for these parents. Clinical illustrations are provided of (1) the reciprocal relationship between disruption of the mourning process and disturbance of communication between family members, and (2) the transmission of the dysfunctional relationship between hearing parents and deaf children to the subsequent relationship between the deaf children, when they reach adulthood, and their hearing children.     

“Where Does it Come from?” Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya

Genetic testing and counseling have become integral to the timely control of heritable cancers, like the childhood eye cancer retinoblastoma. This study aimed to determine attitudes, knowledge and experiences related to retinoblastoma genetics, among survivors and parents of children with retinoblastoma in Kenya. This qualitative study used focus groups as the primary data collection method, coupled with a brief demographic questionnaire. Study settings were Kenyatta National Hospital and Presbyterian Church of East Africa Kikuyu Hospital. Thematic analysis was used to identify key themes. Thirty-one individuals participated in five focus groups. Two main concepts emerged: (1) the origins of retinoblastoma are unclear, and (2) retinoblastoma is associated with significant challenges. The lack of clarity surrounding the origins of retinoblastoma was linked to limited knowledge of retinoblastoma genetics, and limited genetic counseling delivery and uptake. The challenges associated with retinoblastoma were discussed in terms of the impact of the diagnosis on individuals and families, and unmet healthcare needs related to the diagnosis. Next steps will incorporate these findings to develop evidence-informed and accessible cancer genetic services in Kenya.     

“MORE” is “LESS”: Sign language comprehension in deaf and hearing children

Matched groups of deaf children of deaf parents and hearing children of hearing parents were required to indicate which of two glasses contained more or less water. The deaf comprehended the meaning of the highly iconic sign “LESS” across all ages while comprehension of the noniconic sign “MORE” was a function of age. These data, reflecting a “MORE is LESS” effect, were the reverse of the findings for the hearing given speech. When given sign, the performance of the hearing was similar to that of the deaf except for the absence of an age-related increase in “MORE” accuracy. Analyses of response biases revealed differential preferences for the two groups. Results are discussed in terms of the relative iconicity of the two signs and Clark's Semantic Feature Hypotheses.     

听觉障碍对聋人视觉功能影响的理论之争：缺陷还是补偿？

听觉通道受损,是否会影响聋人的视觉功能？有三种理论对此做出了解释。缺陷理论：聋人视觉功能存在缺陷,包括听觉脚手架假说和劳动分工假说。补偿理论：聋人视觉功能会表现出增强,包括响应增强假说、知觉增强假说、超通道功能假说和背侧通路假说。整合理论：聋人视觉功能既可能表现为缺陷,也可能表现为增强,与实验任务和被试年龄有关。本文评述了听觉障碍对聋人视觉功能影响的三种理论,并对其今后的发展趋势进行了展望。     

Cognitive consequences of congenital deafness

Comparing congenitally deaf children with hearing children on a variety of information processing tasks provides a natural test of the developmental consequences accompanying the long term loss of a particular sensory input. In this experiment, two sequential and two spatial tasks were used to evaluate the way deaf and hearing individuals process these different types of information. When deaf students were asked to recall the order of a string of lights, they performed as well as hearing students. Deaf students were at a significant disadvantage, however, when processing sequentially presented digits. Deaf students performed as well as hearing students on two complex, standardized spatial tasks. The loss of a major sensory modality had minimal effect on three of the four tasks investigated in the present study. Explanations for the single task with a performance differential are considered.     

Autobiographical narratives of deaf and hearing adults: an examination of narrative coherence and the use of internal states

To examine the impact of early linguistic experiences on later verbal report of autobiographical memory, 13 hearing adults and 13 deaf adults born to hearing parents described events that occurred before and after the age of 10 years. The contextual, temporal, and thematic coherence of the narratives was rated. The use of emotional, perceptual, mental, and physiological states was also recorded. There were differences in the coherence of the narratives and use of internal states according to the age at which the events occurred. There were no group differences in coherence, but hearing adults provided longer narratives than deaf adults. When narrative length was controlled, deaf adults included more emotional states than hearing adults. Results suggest that early unavailability of language does not impact the coherence of adults' narratives, although certain features of linguistic expression specific to ASL may result in greater saturation of emotional states references in autobiographical narratives of deaf adults.