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Deaf Genetic Testing and Psychological Well-Being in Deaf Adults

  • Original Research
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Journal of Genetic Counseling

Abstract

Limited data suggest that enhanced self-knowledge from genetic information related to non-medical traits can have a positive impact on psychological well-being. Deaf individuals undertake genetic testing for deaf genes to increase self-knowledge. Because deafness is considered a non-medical trait by many individuals, we hypothesized that deaf individuals receiving a genetic explanation for why they are deaf will experience increased psychological well-being. We report results from a prospective, longitudinal study to determine the impact of genetic testing (GJB2, Cx26; GJB6, Cx30) on perceived personal control (PPC), anxiety, and depression in deaf adults (N = 209) assessed following pre-test genetic counseling as well as 1-month and 6-months following test result disclosure. Participants were classified as Cx positive (n = 82) or Cx negative/inconclusive (n = 127). There was significant evidence for Cx group differences in PPC and anxiety over time (PPC: Cx group*time interaction p = 0.0007; anxiety: Cx group*time interaction p = 0.002), where PPC scores were significantly higher, and anxiety scores were significantly lower for the Cx positive group relative to the negative/inconclusive group following test result disclosure. Compared to pre-test, PPC scores increased at 1-month (p = 0.07) and anxiety scores decreased at 6-months (p = 0.03) for the Cx positive group. In contrast, PPC scores decreased (p = 0.009, p < 0.0001) and anxiety scores increased (p = 0.09, p = 0.02) for the Cx negative/inconclusive group at 1- and 6-months post test result disclosure. Genetic testing for deaf genes affects the psychological well-being of deaf individuals. Increasing deaf adults’ access to genetic testing may potentially enhance self-knowledge and increase psychological well-being for those who receive a genetic explanation, which could offer downstream health benefits.

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Notes

  1. Use of the terms “deaf genes” and “deaf genetic testing” is intentional. “deaf genes” and “deaf genetic testing” are the American Sign Language-deaf-centric equivalent of the English language-hearing-centric concepts of “genes for deafness”/“genetic testing for deafness”. This is analogous to the idea that deaf people do not use people-first terminology to describe themselves (i.e., it is appropriate to say “deaf person” and inappropriate to say “person who is deaf” or “person with deafness”). Genetic counselors will be exposed to the terms “deaf genes” and “deaf genetic testing” when they provide genetic counseling to deaf adults interested in this testing.

  2. We use the term deaf (with a lower case d) to refer simply to an audiologic phenotype of hearing loss. Deaf (with a capital D) is used to refer to individuals who are members of the Deaf community, a distinct cultural group. The term Deaf is distinct from deaf; individuals within the Deaf community may be deaf or hard-of-hearing (Senghas and Monaghan 2002).

  3. “The notion that one is superior based on one’s ability to hear or to behave in the manner of one who hears.” (Humphries 1977)

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Acknowledgments

We thank the deaf and hard-of-hearing community of California who participated in this research. This work was supported by the National Human Genome Research Institute (Ethical, Legal, and Social Issues Branch) [R01 HG003871]. We also thank the Brocher Foundation for supporting the analysis phase of this research during a resident fellowship in August, 2011 at the Brocher Foundation, Hermance, Switzerland.

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Correspondence to Christina G. S. Palmer.

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Palmer, C.G.S., Boudreault, P., Baldwin, E.E. et al. Deaf Genetic Testing and Psychological Well-Being in Deaf Adults. J Genet Counsel 22, 492–507 (2013). https://doi.org/10.1007/s10897-013-9573-7

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