Communicating BRCA1/2 genetic test results within the family: A qualitative analysis

Abstract

Genetic testing for BRCA1/2 mutations associated with hereditary breast and ovarian cancer reveals significant risk information about one's chances of developing cancer. It is important to study communication processes in families where members are undergoing genetic testing because the information received is crucial not just to the individual concerned but also to other members of the biological family. This study investigates family communication of BRCA1/2 test results from both the informants' and recipients' perspectives. A total of 10 female patients and 22 of their relatives were interviewed. Patients' and their relatives described feelings of responsibility for sharing genetic information within the family to enable others to reduce their risks of developing cancer. However, there were limits to an individuals' responsibility once key family members had been informed, who then had to take responsibility for continuing dissemination of information. Whilst there was an implicit responsibility to inform the family of a mutation, information was edited or withheld in the best interest of relatives, dependent upon their perceived emotional readiness, resilience and current life stage and circumstances. The pre-existing family culture and the impact previous cancer diagnoses had upon the family also influenced the process of communication. Findings are discussed in relation to extant literature and implications for clinical practice are considered.

Accuracy of recall of information about a cancer-predisposing BRCA1/2 gene mutation among patients and relatives

“…These differences may have contributed to the lower level of accuracy among relatives. As previous research has suggested, there are a number of possible reasons why information may not be recalled following genetic counselling about a BRCA1/2 mutation, including lack of understanding, 24 individual interpretation or perceived lack of relevance 8 and not valuing the information sufficiently to retain it. 11 A lower level of accuracy was seen for hereditary cancer than for genetics among patients and relatives.…”

“…5 Families prefer information to be passed on by the patient; 6 yet, although most families do appear to communicate genetic information, 5 patients do not always share all information with all at-risk relatives. 7,8 There are many barriers to family communication about hereditary cancer, 9 including lack of a close relationship, 6 reluctance to upset relatives, 10 youth or emotional readiness of relatives, 11 family culture, 8 perception of the risks and benefits of the information 12 and personal beliefs about the causes of genetic illness. 13 Information about a cancer-predisposing gene mutation does not necessarily lead to changes in risk perception, 1 although the way in which information is communicated within families may influence the uptake of genetic counselling and screening.…”

The Concept of “Genetic Responsibility” and Its Meanings: A Systematic Review of Qualitative Medical Sociology Literature

“…Where consequences seemed more controllable and not necessarily fatal, the obligation was thought to be weaker. For instance, Dancyger et al (2011) reported that information was edited or withheld in HBOC families if those who were tested considered the recipient's capacity to cope with the information as diminished.…”

Development of the Informing Relatives Inventory (IRI): Assessing Index Patients’ Knowledge, Motivation and Self-Efficacy Regarding the Disclosure of Hereditary Cancer Risk Information to Relatives

“…Genetic counselors encourage counselees to inform at-risk relatives about their genetic test result and the availability of surveillance measures [4]. This holds in particular for the first person within a family who attends genetic counseling: 'the index patient'.…”

“…This holds in particular for the first person within a family who attends genetic counseling: 'the index patient'. Index patients are central in sharing information and facilitating informed decision-making concerning risk management options for relatives [4].…”