An exploratory study of the information and support needs of individuals affected by one of two rare cancer syndromes: MEN2A or VHL

PURPOSE: Multiple endocrine neoplasia type 2A (MEN2A) and von Hippel Lindau syndrome (VHL) are rare, inherited, early onset cancer syndromes characterised by the development of tumours in one or more parts of the body. Genetic testing is typically carried out in young children with a family history of either condition. Individuals identified as gene carriers undergo lifelong surveillance in order to detect tumours at an early stage. Little is known, however, about the psychosocial experiences of individuals affected by MEN2A or VHL. This research aims to identify the unmet information and support needs of individuals affected by these rare cancer syndromes. METHODS: Patients with a confirmed diagnosis of MEN2A or VHL were ascertained via the Hereditary Cancer Clinic at Prince of Wales Hospital, New South Wales, Australia. A semi-structured individual interview was developed to assess five broad themes: impact of MEN2A/VHL on various life domains such as relationships, education and employment; current coping and support strategies; attitudes towards childbearing; family communication about the disease; and unmet information and support needs. RESULTS: Interviews with approximately 20 patients and 16 caregivers are currently underway, with 16 completed patient interviews and 8 completed caregiver interviews. Data will be analysed separately for patients and caregivers, using the qualitative data analysis software, QSR N6. Particular focus will be placed on potential thematic differences between patient groups and genders. CONCLUSION: The results of this qualitative study will inform the development of a survey instrument, which we aim to administer on an international scale through collaborations with the Association for Multiple Endocrine Neoplasia Disorders (AMEND) and the VHL Family Alliance. RESEARCH IMPLICATIONS: Studies describing the psychological experiences of participants in genetic testing programs for hereditary cancer disorders have focused almost exclusively on late-onset disorders. It is not known whether the results of these studies apply to those at risk for hereditary cancers with an early onset. CLINICAL IMPLICATIONS: Research in this area is needed in order to develop and effectively target appropriate education and support services for these patient groups. ACKNOWLEDGEMENT OF FUNDING: N. Kasparian is supported by a Clinical Research Australian Fellowship from the National Health & Medical Research Council of Australia (NH&MRC). This project is also supported by an Early Career Researcher Award (N. Kasparian) from The University of NSW.