Challenges of Non-Disclosure
Privacy laws prevent disclosure of one individual’s personal information without their express consent. This case presented counselling challenges when it was serendipitously identified that a 21 year old female was at risk of inheriting a BRCA1 mutation. She was referred to our service to investigate a malformed and shortened 4th right metatarsal. Collecting a pedigree revealed no significant family history including no reported cancer in the extended family. Diagnoses of Pseudo-pseudo hypoparathyroidism, Turner Syndrome, familial brachdactyly and Tricho-Rhino-Phalangeal syndrome Type 1 were considered. However, these have been discounted and no final diagnosis has yet been reached. On examination, a significant additional physical feature was her near absent breast development. At the time of her second clinic appointment, she had undergone breast augmentation. By this time the counsellor had become aware of the unreported strong family history of breast cancer and the BRCA1 familial mutation. We explore the legal and ethical issues involved in this case, the options that were available to us, and how the difficulties were subsequently resolved.