Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study

Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, Lee Elle; Linden, Joyce; Kobayashi, Yôko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne S.; Grody, Wayne W.; Palmer, Christina G.S.

doi:10.1093/deafed/enq012

Cited by 30 publications

(46 citation statements)

References 40 publications

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“…Genetic testing would be welcomed even by communities in which genetic counseling and testing are not usually applied, if it is offered in accordance with their cultural norms and beliefs. Therefore, while Middleton et al [12] identified predominantly negative attitudes toward genetic research and genetic testing for deafness, more current research demonstrates a growing interest in the deaf community in pursuing genetic testing [13,14,22]. The reasons for pursuing genetic testing vary, as described in these studies, but a strong motivation is to learn why they are deaf.…”

Section: Discussionmentioning

confidence: 93%

Parental attitudes toward genetic testing for prelingual deafness in China

Dong²,

Wang

et al. 2010

International Journal of Pediatric Otorhinolaryngology

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Section: Discussionmentioning

confidence: 93%

Parental attitudes toward genetic testing for prelingual deafness in China

Dong²,

Wang

et al. 2010

International Journal of Pediatric Otorhinolaryngology

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“…Benefits can include providing etiologic information, identifying (or allaying concerns about) comorbidities that may need referral for specialty care, planning for future medical and educational needs, facilitating estimations of the likelihood of recurrence, allowing families to better plan for the birth of a deaf or hard-of-hearing child, relieving the guilt that some parents may feel about having a child with hearing loss, enhancing ACMG PrACtiCe Guidelines psychological well-being, dispelling misinformation, and facilitating referral for unrelated hereditary conditions such as familial cancer. 48,[70][71][72][73][74][75][76][77][78][79] Furthermore, if mitochondrial DNA mutations associated with genetic susceptibility to aminoglycoside ototoxicity are discovered, it may be possible for relatives to avoid precipitating medications. [53][54][55] As with any genetics evaluation, clear communication between the genetics professionals and their patients is important for the provision of effective genetics services.…”

Section: The Importance Of Genetic Evaluation and Genetic Counseling mentioning

confidence: 99%

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Alford

Arnos

Fox

et al. 2014

Genetics in Medicine

211

134

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DEFINITIONSDeaf: a community with a distinct culture and language shaped by the experience of being deaf or hard of hearing, which may include deaf, hard-of-hearing, and hearing individuals deaf: an auditory phenotype characterized by a total or neartotal loss of the ability to hear hard of hearing: an auditory phenotype characterized by a partial loss of the ability to hear hearing loss: an auditory phenotype characterized by any degree of loss of the ability to hear; depending on cause, hearing loss can be temporary or permanent-this guideline focuses on permanent hearing loss Hearing loss is a common and complex condition that can occur at any age, can be inherited or acquired, and is associated with a remarkably wide array of etiologies. The diverse causes of hearing loss, combined with the highly variable and often overlapping presentations of different forms of hearing loss, challenge the ability of traditional clinical evaluations to arrive at an etiologic diagnosis for many deaf and hard-of-hearing individuals. However, identifying the etiology of a hearing loss may affect clinical management, improve prognostic accuracy, and refine genetic counseling and assessment of the likelihood of recurrence for relatives of deaf and hard-of-hearing individuals. Linguistic and cultural identities associated with being deaf or hard of hearing can complicate access to and the effectiveness of clinical care. These concerns can be minimized when genetic and other health-care services are provided in a linguistically and culturally sensitive manner. This guideline offers information about the frequency, causes, and presentations of hearing loss and suggests approaches to the clinical evaluation of deaf and hard-of-hearing individuals aimed at identifying an etiologic diagnosis and providing informative and effective patient education and genetic counseling.

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“…Exploratory and pilot studies have identified interest in furthering research as among the primary reasons given for testing for genetic causes of sudden cardiac death, smoking susceptibility, deafness, and a variety of cancers [28][29][30][31][32]. For quantitative studies involving genetic tests for conditions including BRCA, Alzheimer's, and Pancreatitis, testing intention has previously been associated with wanting to help advance research [33][34][35][36][37].…”

Section: Doi: 107243/2054-992x-4-4mentioning

confidence: 99%

Can genetic research motivate parents to pursue genomic testing for children with autism spectrum disorder?

Floyd¹,

Liu²

2017

J Autism

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Advanced genomic tests such as Chromosomal Microarray Analysis (CMA) have been clinically offered to children with Autism Spectrum Disorder(ASD). However, the actual utilization of these tests is low among parents of children with ASD. The aim of this study is to examine the association between parental perceptions regarding autism research and their intention to take their children to undergo recommended genomic tests. We conducted a web-based survey using a community strategy in Eastern North Carolina among parents of children with ASD. Our final sample constituted 204 parents. The majority were mothers, married and Caucasian. Parents' test intention was high among this sample, and those desiring to help and expressing favorable perceptions toward ASD genetic research were more likely to test. Our findings suggest a link between parental attitudes towards genetic research and their decision to test a child with ASD. This study can influence patient education approaches of health professionals in counseling parental genetic testing decision, as well as informing policy creation about access and outreach for parents toward ASD research.

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Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study

Cited by 30 publications

References 40 publications

Parental attitudes toward genetic testing for prelingual deafness in China

Parental attitudes toward genetic testing for prelingual deafness in China

American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss

Can genetic research motivate parents to pursue genomic testing for children with autism spectrum disorder?

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