Aim: To describe the short and longer-term psychological consequences of waiting for the results of mutation searching (MS) amongst those at risk of hereditary breast and ovarian cancer (HBOC).
Design: A prospective study, with measures before the offer of a mutation search, and 1 week, 6 months and 12 months afterwards.
Sample: 21 unaffected women at risk of HBOC offered MS in an affected relative at one of two UK regional genetics centres.
Outcome measures: Standardized questionnaire measures of general anxiety, general distress, distress about cancer in the family and cancer-specific worries.
Results: Mutation searches were initiated in 15 of 21 families; two received results within 12 months. For the 13 still waiting for results, levels of anxiety and distress were within normal ranges at all time-points. They reported reduced worries about cancer 6 and 12 months post-search offer compared with earlier assessments, but experienced an increase in general anxiety 12 months since the search offer. These changes over time were not found in those not waiting for the results of a mutation search.
Conclusion: The majority of women were without a result 12 months after being offered MS. Whilst these women were less worried about cancer in the 6 months after initiating the testing process, their anxiety levels increased 12 months since the offer of a mutation search. Seeing a specialist seems to reduce cancer worries. There may, however, be long-term psychological costs of offering tests that are unlikely to give results in a foreseeable future.