The Process of Disclosure: Mothers’ Experiences of Communicating X-Linked Carrier Risk Information to At-Risk Daughters

Abstract

When a boy is diagnosed with an X-linked condition such as Duchenne or Becker muscular dystrophy (D/BMD), the mother learns not only of her own potential carrier risk but also that of her daughters. Before the daughters are seen in the Genetics Clinic, responsibility for disclosing carrier risk information falls mainly to their mothers. We know little about if when and how these daughters are being told about their risk, and how mothers find the experience. Should we be doing more to help and support them? Using qualitative methods, six mothers known to the Manchester Centre for Genomic Medicine were interviewed about the disclosure of D/BMD carrier risk information to their daughters. The four key themes that arose are presented: communication process, facilitators of disclosure, barriers to disclosure and support and information. Despite the participants’ endeavours to be open and honest with their daughters and their belief that they had fully disclosed, key information was often withheld. Major barriers to discussion of the future, including reproductive options, were apparent. These were partly overcome by the involvement of genetic counsellors (GCs). The participants suggested a greater involvement of GCs, proactively sending appointments and written information, and offering carrier testing more flexibly.