Abstract for presentation at 11th International Congress of Human Genetics

The Psychosocial Impact of Familial Adenomatous Polyposis on Young Adults

  • Dr Lesley Andrews, Prince of Wales Hospital, Sydney, Australia
  • Dr Shab Mirekesandari, Prince of Wales Hospital, Sydney, Australia
  • Dr Bettina Meiser, Prince of Wales Hospital, Sydney, Australia
  • Prof Finlay Macrae, Royal Melbourne Hospital, Melbourne, Australia
  • Prof Michael Solomon, Royal Prince Alfred Hospital, Sydney, Australia
  • Dr Belinda Thewes, Prince of Wales Hospital, Sydney, Australia
  • Ms Jennifer Irle, Prince of Wales Hospital, Sydney, Australia

    • This study aims to evaluate the psychosocial impact on young adults of being at risk, having genetic testing and the surgical interventions related to Familial Adenomatous Polyposis (FAP).
    Phase 1: Ten Hereditary Cancer Clinic patients aged 18-35 with either a clinical or genetic diagnosis of FAP, or at 1 in 2 risk, had a semi-structured telephone interview (4males, 6 females). Many described a significant impact on employment due to frequent bowel movements, and time off for medical appointments. Social activities were restricted by the frequent need for a toilet and avoiding others seeing their surgical scars. Several described a negative impact on intimate relationships, fears of fertility and concerns about the risk for their children.
    Phase 2: An FAP-specific questionnaire was developed using qualitative data from phase1 and validated psychometric measures. 73 participants (23 males, 50 females)were recruited through 4 Australian Hereditary Bowel Cancer Registries. The average age at participation was 27 years and 22 years at the last genetic consultation. 57 participants had clinical FAP; 45 had undergone either IRA or IPAA. One quarter of all participants had Impact of Event total scores indicative of a significant stress response. Those who had undergone surgery had statistically significant higher levels of distress related to body image. Participants’ highest areas of unmet support needs were with regard to anxiety about their children having FAP (37%) and fear of cancer (30%).
    Although 74% would consider prenatal genetic testing, only 11% would consider termination of an affected pregnancy. Two thirds thought the preferred age for genetic testing of offspring was less than 10years. These findings demonstrate that FAP has a considerable psychosocial impact on young adults, with many having unmet support needs. The length of time since the last genetic consultation, and the young age at which these consultations took place, suggests that regular follow may address these unmet needs, particularly in those counselled as adolescents. The parental desire to test children before it is clinically indicated may be a source of distress and conflict with genetic services.

    Conference Organiser - ICMS Pty Ltd