A qualitative study examining the experiences of people who have had BRCA1/2 genetic testing of talking to their relatives about their genetic testing and its implications for future research and clinical practice


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Kim Chivers Seymour1, Julia Addington-Hall1, Anneke Lucassen2, Claire Foster1
1University of Southampton, Southampton, UK, 2Princess Anne Hopistal, Southampton, UK

Background

Genetic testing for an inherited predisposition to cancer potentially reduces morbidity and mortality. Access to risk information is often dependent on whether genetic results are discussed within families. Research suggests that talking about a family history of cancer, associated risks and genetic testing can be difficult for concerned individuals and relatives. This research explored how people communicate genetic test information to their relatives; its implications; and how they could be supported in doing this.

Method

29 interviews were conducted with participants who had undergone genetic testing for BRCA1/2 due to their family history of breast/ ovarian cancer. Participants included 27 females and two males (age range 23-79 years; mean = 51.2 years).

Results

This research suggests the process of communication evolves over four distinct stages: 1) during a general awareness of the family history of cancer; 2) whilst undergoing genetic counselling; 3) when receiving the test result; and 4) when following up with specific family members. A number of challenges are raised at each of these stages.

Conclusion

There has been a call for research that acknowledges family communication regarding genetic testing as a process rather than a discrete event; this is achieved by exploring the four stages of family communication.  Participants found it hardest to communicate with those they contacted in the Stage four.  It was emotional closeness, rather than genetic relationship or geographic distance, which determined whether people were included in the earlier stages. Exceptions included: male relatives, who despite being emotionally close, were often left out of discussions; and when it was necessary to contact more distant relatives to get information. The longitudinal view identified gives deep insight into not only who but why certain family members were contacted at particular times. This understanding will allow future interventions to be targeted where it is most helpful.