Background:
Predictive testing for BRCA1 and/or BRCA2 mutations provides numerous benefits for at-risk relatives. Targeted screening, medical prevention, and risk-reducing surgery can improve survival outcomes for mutation-carriers, and avoid unnecessary costs for non-carriers. This benefit is dependent on communication of the mutation, however significant barriers and challenges are faced in disseminating this information. Unless specifically elicited by the genetic counsellor, many of these challenges remain unidentified. Understanding these challenges can help genetic health professionals improve their counselling practice and follow-up procedures, and ultimately enhance the public health benefit of predictive testing.
Aim:
This study aims to determine the major dissemination challenges within families, and the follow-up needs of those experiencing difficulties.
Methods:
BRCA1/BRCA2-carriers identified from four hospitals were invited to participate in the study. A telephone interview of consenting patients assessed their experience disseminating information about the genetic finding to all at-risk family members, and their attitudes to follow-up. Thematic analysis was conducted in order to determine key themes.
Results:
Interviews have been completed for 165 patients. Three major themes have emerged to date: 1) barriers to informing relatives 2) challenges experienced after informing, and 3) relatives’ reluctance to follow-up with predictive testing. Barriers to informing relatives include emotional barriers, geographical barriers, family dynamics, and misunderstanding. Challenges experienced after informing include frustration, blame, regret, guilt and evasive behaviour. Relatives’ reluctance to follow-up with predictive testing stems from emotional reasons, reinforcement issues, ignorance, misinformation, or lifestyle and practical issues. Patients reported either a need for psychosocial support and help to contact relatives, or information updates without direct clinical contact.
Conclusions:
This study will provide evidence of common barriers and challenges to family communication faced by BRCA1/2-carriers, and help guide counselling practice and follow-up procedures. Identifying the preferred method of follow-up at results disclosure may be beneficial in directing ongoing patient support.