Communicating cancer risk within an African context: Experiences, disclosure patterns and uptake rates following genetic testing for Lynch syndrome

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