Deaf Genetic Testing and Psychological Well‐Being in Deaf Adults

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 for the Cx positive group (p=0.03). 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.

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

“…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.…”

Emotional Intelligence and Psychological Well-Being among Hearing-Impaired: Does it Relates?

“…All these studies, however, have contradicted the studies done by [19] and [20]. Meanwhile, [21] found that genetic excuse (parents status of hearing) did have a significant association with the students' psychological well-being.…”

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

“…For consistency, these variables are treated using the same categorizations described in other publications from this study [6], [36], [40]. Potential confounders such as enrollment site, genetic counselor, and interpreter were recorded for each participant.…”