AI Article Synopsis
- The study investigated emotional reactions to Lynch syndrome mutation-positive test results in South African individuals, revealing eight different emotional responses, notably secrecy due to disbelief and misinterpretation of results as a cancer diagnosis.
- High disclosure rates of test results to family members contrasted with lower rates to healthcare providers, and while many participants communicated their results, discussions on implications and predictive testing options were often lacking.
- The findings emphasize the importance of understanding emotional responses and communication patterns to enhance genetic counseling for families affected by Lynch syndrome.
Article Abstract
Objective: Data pertaining to Lynch syndrome within a developing country are sparse. This study explored the emotional reaction to a mutation-positive test result among a group of individuals from South Africa. As genetic information is not only limited to the individual but extends to the biological family, communication patterns and uptake of testing among at-risk family members was also investigated.
Methods: Eighty individuals participated in this qualitative interview study.
Results: Eight emotional reactions were observed, of which two were of particular concern: (1) secrecy due to disbelief and (2) interpretation of a mutation-positive result as a cancer diagnosis. Disclosure rates of personal genetic test results were high to family members, but low to general healthcare providers. Disclosing the test result was not always followed by a discussion of implications of the genetic information or availability of predictive testing for at-risk family members. The uptake rate of predictive testing among the participants' siblings and children was 97% and 73.6%, respectively.
Conclusion: Awareness of concerning emotional reactions following the delivery of a genetic test result and insight into disclosure patterns, especially the information that is not communicated, will prove beneficial in improving the effectiveness of counselling and management in Lynch syndrome families.
Practice Implications: Implementation of these findings into the PT programme will have a positive effect on the genetic counseling process.
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| http://dx.doi.org/10.1016/j.pec.2013.02.001 | DOI Listing |
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