The psychological consequences of offering mutation searching in the family for those at risk of hereditary breast and ovarian cancer - A pilot study

Aim: To describe the short and longer-term psychological consequences of wa iting for the results of mutation searching (MS) amongst those at risk of h ereditary breast and ovarian cancer (HBOC). Design: A prospective study, with measures before the offer of a mutation s earch, and 1 week, 6 months and 12 months afterwards. Sample: 21 unaffected women at risk of HBOC offered MS in an affected relat ive at one of two UK regional genetics centres. Outcome measures: Standardized questionnaire measures of general anxiety, g eneral distress, distress about cancer in the family and cancer-specific wo rries. Results: Mutation searches were initiated in 15 of 21 families; two receive d 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 re ported reduced worries about cancer 6 and 12 months post-search offer compa red with earlier assessments, but experienced an increase in general anxiet y 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 bei ng offered MS. Whilst these women were less worried about cancer in the 6 m onths after initiating the testing process, their anxiety levels increased 12 months since the offer of a mutation search. Seeing a specialist seems t o reduce cancer worries. There may, however, be long-term psychological cos ts of offering tests that are unlikely to give results in a foreseeable fut ure. Copyright (C) 2000 John Wiley & Sons, Ltd.