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

Abstract

ObjectivesDisclosure of a hereditary condition in the family poses notable challenges for patients who often seek the assistance of genetic health professionals (GHPs). This study aimed to investigate GHPs’ opinions about the ideal time for disclosure to offspring and their responsibility to at-risk relatives.DesignCross-sectional qualitative study.SettingGenetic familial cancer clinics related to mostly secondary and tertiary care hospitals and centres in urban, regional and rural areas across all states of Australia.ParticipantsGHPs (N=73) including clinical geneticists, genetic counsellors, medical specialists, nurses, surgeons and mental health specialists (eg, psychiatrists, psychologists) who had worked with BRCA1 and BRCA2 families for an average of 9 years.ResultsFocus groups and interviews were transcribed and analysed thematically. GHPs perceived that life stage, maturity, parents’ knowledge and capacity to disseminate information influenced parent–offspring disclosure. In general, GHPs recommended early informal conversations with offspring about a family illness. GHPs considered that facilitation of disclosure to relatives using counselling strategies was their responsibility, yet there were limitations to their role (eg, legal and resource constraints). Variability exists in the extent to which genetic clinics overcome challenges to disclosure.ConclusionsGHPs’ views on the ideal time for the disclosure of genetic risk are generally dependent on the patient’s age and relative’s ability to disclose information. A responsibility towards the patient and their at-risk relative was widely accepted as a role of a GHP but views vary depending on legislative and specialty differences. Greater uniformity is needed in genetic procedural guidelines and the role of each discipline (eg, geneticists, genetic counsellors, oncologists, nurses and mental health specialists) in genetic clinics to manage disclosure challenges.

Pakistani healthcare professionals’ perceptions of communication with patients and their relatives about hereditary breast cancer: a qualitative study in a LMIC

“…HCPs considered communication with patients' relatives about HBC beyond their remit. This finding aligns with research emphasising that patients are ultimately responsible for intrafamilial communication (Young et al 2020). Nevertheless, HCPs acknowledged the challenges for patients in initiating such communication.…”

Genetic and genomic nursing competency among nurses in tertiary general hospitals and cancer hospitals in mainland China: a nationwide survey

“…The confidence domain measures confidence in (1) discussing genetics with patients; (2) deciding what FH information is relevant to assessing genetic susceptibility; (3) determining the availability, risks, benefits and limitations of genetic testing; and (4) facilitating referrals for genetic services. The decision/adoption domain involves self-reported collection and assessment of FH within the past 3 months, as well as self-reported facilitation of referrals to genetic services.…”

Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review

“…Skills in conducting pedigree review and addressing family communication barriers are part of the repertoire of genetic counsellors and are easily applicable in a standard genetic counselling appointment [ 13 ]. Further research is needed to explore the feasibility of interventions with healthcare professionals other than genetic counsellors.…”

“…However, the DCA protocols used in these studies initially relied on the proband to contact relatives before sending a letter from the genetics clinic [ 21 , 22 ], a process that mimics the protocol followed by FMA protocols [ 24 ]. Indeed, genetics clinics are required to follow the respective legislation and guidelines as to whether a purely DCA protocol is used [ 13 , 14 ].…”

“…Yet, there remain privacy and confidentiality barriers preventing widespread implementation of DMA. Consequently, many genetic centres do not currently have legal authority to override a patient’s autonomy in dissemination of their genetic results [ 13 ] and/or guidelines do not mandate disclosure [ 14 ]. Furthermore, many countries do not have the legislation support to maintain a genetic registry which would be required to ensure DMA is conducted comprehensively and efficiently.…”