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  • Predictors of psychological distress among individuals with a strong family history of malignant melanoma
    (2008) Kasparian, Nadine; Meiser, Bettina; Butow, P; Simpson, John; Mann, G
    Journal Article
    Despite rapid advancements in molecular genetics research, little is known about the psychological experiences of individuals with a family history of melanoma. The present study aimed to identify factors contributing to psychological distress among affected and unaffected individuals with a strong family history of melanoma. A total of 121 adults who had recently been informed of the identification of a family-specific mutation in the CDKN2A melanoma susceptibility gene, completed a self-report questionnaire assessing cancer-specific and generalized distress, and a variety of potential predictors. Having a personal history of melanoma (OR = 3.37, p = 0.033), perceiving greater family implications of melanoma (OR = 2.52, p < 0.0001), and the tendency to monitor for threatening information (OR = 3.12, p = 0.008) were associated with melanoma-specific distress. Being childless (beta = 2.09, p = 0.007), perceiving sun exposure as an important cause of melanoma (beta = 1.15, p = 0.015), and perceiving greater family implications of melanoma (beta = 1.02, p = 0.002) were associated with greater generalized anxiety, while monitoring moderated the relationship between endorsement of a genetic model of melanoma and generalized anxiety (p = 0.005). As in other common familial cancers, distress was relatively uncommon in this familial melanoma cohort, even after notification of the presence of a family mutation. Participants do not contemplate their melanoma risk in isolation, but evaluate their risk vis-a-vis the experiences of their relatives.
  • Attitudes to genetic testing in families with multiple cases of bipolar disorder
    (2008) Meiser, Bettina; Kasparian, Nadine; Mitchell, Penny; Strong, Kathryn; Simpson, John; Tabassum, Laila; Mireskandari, Shab; Schofield, Peter
    Journal Article
    Objectives: This study assesses interest in genetic testing for gene variations associated with bipolar disorder and associated information needs. Methods: Two hundred individuals (95 unaffected and 105 affected with either bipolar disorder, schizoaffective disorder-manic type, or recurrent major depression) from families with multiple cases of bipolar disorder were assessed, using mailed, self-administered questionnaires. Results: The percentage of participants reporting interest in genetic testing was associated with the degree of certainty with which any test would indicate the development of bipolar disorder. Interest in genetic testing, given a 25% lifetime risk scenario, was lowest (with 77% of participants indicating interest), and highest for the 100% lifetime risk scenario (92%). Eighty percent of participants indicated interest in genetic testing of their own children; of these 30% reported wanting their children tested at birth, and 33% in early childhood. Forty-one percent of participants reported that they would be interested in preimplantation genetic diagnosis, and 54% in prenatal testing. Limitations: The possibility of ascertainment bias cannot be ruled out. Interest in hypothetical genetic testing for bipolar disorder may not necessarily translate into actual utilization. Conclusions: These results indicate that uptake of genetic testing for genotyping for low-risk alleles related to bipolar disorder is likely to be lower than for testing for high-penetrance gene mutations that follow Mendelian inheritance. The discrepancy between the desired age of testing children and the accepted current practice may be a source of distress and conflict for parents and health professionals alike.