A qualitative reflexive thematic analysis into the experiences of being identified with a BRCA1/2 gene alteration: “So many little, little traumas could have been avoided”

BACKGROUND: BRCA1/2 alterations increase females’ lifetime breast cancer risk to 40 – 90%, ovarian cancer to 10 – 60%, and males’ lifetime prostate cancer risk to ~ 10 – 25%. Psychosocial issues such as heightened distress can, therefore, occur in this population. This study aimed to explore the subjective experiences and needs of the BRCA1/2 alteration population in navigating cancer risk reduction measures. METHOD: This study aimed to explore the experiences and identify the needs of 18 BRCA1/2 alteration carriers, recruited through strategic sampling. A public and patient panel (N = 6) collaborated on study development. Data were analysed using reflexive thematic analysis. RESULTS: Two themes were identified: (i) Healthcare Services as a Burden to Navigate, and (ii) Burden Experienced Through Interactions with Healthcare Professionals. Results indicated uncertainty regarding care pathways, alongside a lack of relevant information. Participants felt unsupported by healthcare professionals, and as though healthcare professionals often perceive them as a burden. CONCLUSIONS: These findings suggest that the quality of interactions in healthcare systems are of relevance to the BRCA1/2 alteration population, and that uncertainty surrounding access to services and information is prevalent. The establishment of specialist hereditary cancer clinics could reduce such burden. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12913-022-08372-w.