Quantifying family dissemination and identifying barriers to communication of risk information in Australian BRCA families

Abstract

PurposeRecommendations for BRCA1 and BRCA2 mutation carriers to disseminate information to at-risk relatives pose significant challenges. This study aimed to quantify family dissemination, to explain the differences between fully informed families (all relatives informed verbally or in writing) and partially informed families (at least one relative uninformed), and to identify dissemination barriers.MethodsBRCA1 and BRCA2 mutation carriers identified from four Australian hospitals (n=671) were invited to participate in the study. Distress was measured at consent using the Kessler psychological distress scale (K10). A structured telephone interview was used to assess the informed status of relatives, geographical location of relatives, and dissemination barriers. Family dissemination was quantified, and fully versus partially informed family differences were examined. Dissemination barriers were thematically coded and counted.ResultsA total of 165 families participated. Information had been disseminated to 81.1% of relatives. At least one relative had not been informed in 52.7% of families, 4.3% were first-degree relatives, 27.0% were second-degree relatives, and 62.0% were cousins. Partially informed families were significantly larger than fully informed families, had fewer relatives living in close proximity, and exhibited higher levels of distress. The most commonly recorded barrier to dissemination was loss of contact.ConclusionLarger, geographically diverse families have greater difficulty disseminating BRCA mutation risk information to all relatives. Understanding these challenges can inform future initiatives for communication, follow-up and support.

Talking across generations: Family communication aboutBRCA1andBRCA2genetic cancer risk

“…In Australia, and most countries worldwide, the clinical procedure to inform relatives of a known BRCA1/2 pathogenic variant is to encourage the proband or presenting patient to disseminate the information to the rest of the family. However, the current study and other research (Healey et al, 2017)…”

“…In Australia, and most countries worldwide, the clinical procedure to inform relatives of a known BRCA1/2 pathogenic variant is to encourage the proband or presenting patient to disseminate the information to the rest of the family. However, the current study and other research (Healey et al, ) suggest that while such methods assist in ensuring families are aware of their cancer risk, family dynamics and communication patterns influence whether relatives are informed. Interventions to support parents and families with communicating genetic risk have been developed (Bodurtha et al, ; Hodgson et al, ; Mendes, Chiquelho, Santos, & Sousa, ; Santerre‐Theil et al, ).…”

When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals’ views regarding disclosure of BRCA genetic cancer risk

“…Factors, such as age, gender and the type of genetic condition, can influence offspring’s understanding of genetic information 2 3. GHPs are also concerned about non-disclosure to offspring, which does occur, although less commonly than to extended relatives 4 5. Reasons for non-disclosure include: parental guilt, fear of burdening others and a relative's inability to cope 5.…”

“…GHPs are also concerned about non-disclosure to offspring, which does occur, although less commonly than to extended relatives 4 5. Reasons for non-disclosure include: parental guilt, fear of burdening others and a relative's inability to cope 5. Approximately one-third of patients want GHP involvement during the family communication process,4 6 especially when families are emotionally and geographically distant 6.…”

Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?

“…For individuals who withhold genetic risk information from their relatives, the most commonly reported explanation is not knowing a relative personally (d’Agincourt‐Canning, ; Landsbergen, Verhaak, Kraaimaat, & Hoogerbrugge, ; Mesters, Ausems, Eichhorn, & Vasen, ; Wilson et al, ). Disconnection and loss of contact resulting from divorce, separation and adoption have also been reported to impede family communication processes (Forrest et al, ; Healy et al, ). Personal views and feelings about communication and the utility of genetic testing can act to motivate or inhibit disclosure (d’Agincourt‐Canning, ; Hamilton, Bowers, & Williams, ).…”