Literature DB >> 23430402

Deaf genetic testing and psychological well-being in deaf adults.

Christina G S Palmer1, Patrick Boudreault, Erin E Baldwin, Michelle Fox, Joshua L Deignan, Yoko Kobayashi, Yvonne Sininger, Wayne Grody, Janet S Sinsheimer.   

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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Year:  2013        PMID: 23430402      PMCID: PMC3701749          DOI: 10.1007/s10897-013-9573-7

Source DB:  PubMed          Journal:  J Genet Couns        ISSN: 1059-7700            Impact factor:   2.537


  48 in total

1.  Attitudes of the broader hearing, deaf, and hard-of-hearing community toward genetic testing for deafness.

Authors:  Ariadna Martinez; Joyce Linden; Lisa A Schimmenti; Christina G S Palmer
Journal:  Genet Med       Date:  2003 Mar-Apr       Impact factor: 8.822

2.  A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.

Authors:  Ignacio del Castillo; Manuela Villamar; Miguel A Moreno-Pelayo; Francisco J del Castillo; Araceli Alvarez; Dolores Tellería; Ibis Menéndez; Felipe Moreno
Journal:  N Engl J Med       Date:  2002-01-24       Impact factor: 91.245

3.  Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

Authors:  S Prasad; R A Cucci; G E Green; R J Smith
Journal:  Hum Mutat       Date:  2000-12       Impact factor: 4.878

4.  Psychological impact of predicting individuals' risks of illness: a systematic review.

Authors:  C Shaw; K Abrams; T M Marteau
Journal:  Soc Sci Med       Date:  1999-12       Impact factor: 4.634

5.  Health insurance and discrimination concerns and BRCA1/2 testing in a clinic population.

Authors:  Emily A Peterson; Kara J Milliron; Karen E Lewis; Susan D Goold; Sofia D Merajver
Journal:  Cancer Epidemiol Biomarkers Prev       Date:  2002-01       Impact factor: 4.254

Review 6.  Psychological consequences of predictive genetic testing: a systematic review.

Authors:  M Broadstock; S Michie; T Marteau
Journal:  Eur J Hum Genet       Date:  2000-10       Impact factor: 4.246

7.  A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Authors:  Nathalie Pallares-Ruiz; Patricia Blanchet; Michel Mondain; Mireille Claustres; Anne-Francoise Roux
Journal:  Eur J Hum Genet       Date:  2002-01       Impact factor: 4.246

Review 8.  Extending preimplantation genetic diagnosis: the ethical debate. Ethical issues in new uses of preimplantation genetic diagnosis.

Authors:  John A Robertson
Journal:  Hum Reprod       Date:  2003-03       Impact factor: 6.918

Review 9.  Genetics: advances in genetic testing for deafness.

Authors:  A Eliot Shearer; Richard J H Smith
Journal:  Curr Opin Pediatr       Date:  2012-12       Impact factor: 2.856

10.  Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement.

Authors: 
Journal:  Genet Med       Date:  2002 May-Jun       Impact factor: 8.822

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  2 in total

1.  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.

Authors:  Christina G S Palmer; Patrick Boudreault; Erin E Baldwin; Janet S Sinsheimer
Journal:  PLoS One       Date:  2014-11-06       Impact factor: 3.240

2.  Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community.

Authors:  Yoko Kobayashi; Patrick Boudreault; Karin Hill; Janet S Sinsheimer; Christina G S Palmer
Journal:  BMC Med Res Methodol       Date:  2013-11-25       Impact factor: 4.615

  2 in total

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