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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.

Palmer CG, Boudreault P, Baldwin EE, Sinsheimer JS - PLoS ONE (2014)

Bottom Line: This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results.Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed.We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results.

View Article: PubMed Central - PubMed

Affiliation: Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, United States of America; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America; Institute for Society and Genetics, University of California Los Angeles, Los Angeles, California, United States of America.

ABSTRACT
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.

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Related in: MedlinePlus

Responses to “belief about why deaf” by assessment timepoint.*p = 0.02; **p<0.0001; ***p<0.0001; Cx = connexin; GC = genetic counseling; M = month.
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pone-0111512-g004: Responses to “belief about why deaf” by assessment timepoint.*p = 0.02; **p<0.0001; ***p<0.0001; Cx = connexin; GC = genetic counseling; M = month.

Mentions: As a check on participants' understanding of their genetic test results, we performed two additional analyses. First, we evaluated the relationship between Connexin result and belief about why deaf, with the expectation that those with a Connexin-positive result would be more likely to report that they have a genetic form of deafness, and those with a Connexin-negative and Connexin-inconclusive result would be more likely to report that they are deaf for reasons ‘not determined’ after they learned their genetic test results. As shown in Figure 4, at baseline the distribution of participant responses for the reason they are deaf did not differ as a function of their underlying Connexin result (FE p = 0.16), and nearly a third reported that the reason they are deaf was undetermined. While the percentage of participants reporting an undetermined reason for their deafness increased to ∼60% at the pre-test genetic counseling assessment time point, prior to knowing their Connexin test result, those in the Connexin-negative group were less likely to indicate a genetic explanation compared to the Connexin-positive and inconclusive groups (FE p = 0.02). This result provides additional evidence that pre-test genetic counseling appropriately set expectations about genetic test results. One-month following receipt of Connexin results,>95% of participants with a Connexin-positive result reported a genetic explanation for their deafness; the Connexin-inconclusive group was fairly evenly split between attributing a genetic explanation and reporting that the etiology of their deafness was undetermined; and the Connexin-negative group was least likely to report that they have a genetic type of deafness (FE p<0.0001). Of note both the Connexin-negative and Connexin-inconclusive groups were more likely to report that the reason they are deaf is ‘undetermined’ than ‘not genetic’. This result suggests that communication between the genetic counselor and participant was effective in conveying the important concepts of genetic heterogeneity and that ruling out one genetic explanation does not imply ‘not genetic’. Results were similar at 6-months following receipt of Connexin results (FE p<0.0001).


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.

Palmer CG, Boudreault P, Baldwin EE, Sinsheimer JS - PLoS ONE (2014)

Responses to “belief about why deaf” by assessment timepoint.*p = 0.02; **p<0.0001; ***p<0.0001; Cx = connexin; GC = genetic counseling; M = month.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4222828&req=5

pone-0111512-g004: Responses to “belief about why deaf” by assessment timepoint.*p = 0.02; **p<0.0001; ***p<0.0001; Cx = connexin; GC = genetic counseling; M = month.
Mentions: As a check on participants' understanding of their genetic test results, we performed two additional analyses. First, we evaluated the relationship between Connexin result and belief about why deaf, with the expectation that those with a Connexin-positive result would be more likely to report that they have a genetic form of deafness, and those with a Connexin-negative and Connexin-inconclusive result would be more likely to report that they are deaf for reasons ‘not determined’ after they learned their genetic test results. As shown in Figure 4, at baseline the distribution of participant responses for the reason they are deaf did not differ as a function of their underlying Connexin result (FE p = 0.16), and nearly a third reported that the reason they are deaf was undetermined. While the percentage of participants reporting an undetermined reason for their deafness increased to ∼60% at the pre-test genetic counseling assessment time point, prior to knowing their Connexin test result, those in the Connexin-negative group were less likely to indicate a genetic explanation compared to the Connexin-positive and inconclusive groups (FE p = 0.02). This result provides additional evidence that pre-test genetic counseling appropriately set expectations about genetic test results. One-month following receipt of Connexin results,>95% of participants with a Connexin-positive result reported a genetic explanation for their deafness; the Connexin-inconclusive group was fairly evenly split between attributing a genetic explanation and reporting that the etiology of their deafness was undetermined; and the Connexin-negative group was least likely to report that they have a genetic type of deafness (FE p<0.0001). Of note both the Connexin-negative and Connexin-inconclusive groups were more likely to report that the reason they are deaf is ‘undetermined’ than ‘not genetic’. This result suggests that communication between the genetic counselor and participant was effective in conveying the important concepts of genetic heterogeneity and that ruling out one genetic explanation does not imply ‘not genetic’. Results were similar at 6-months following receipt of Connexin results (FE p<0.0001).

Bottom Line: This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results.Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed.We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results.

View Article: PubMed Central - PubMed

Affiliation: Department of Psychiatry & Biobehavioral Sciences, University of California Los Angeles, Los Angeles, California, United States of America; Department of Human Genetics, University of California Los Angeles, Los Angeles, California, United States of America; Institute for Society and Genetics, University of California Los Angeles, Los Angeles, California, United States of America.

ABSTRACT
Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results.

Show MeSH
Related in: MedlinePlus