Abstract
Many children with chronic genetic diseases are followed by specialty clinics that provide genetic information as part of the care. Health services restrictions in the Republic of Ireland (ROI) can make the wait for an appointment with a genetic counsellor long. We examined whether genetic information was being adequately understood when presented by medical, but non-genetics staff to long term patients, using our national metabolic service as an example. The aim was to inform health professionals about the need or role of a genetic counsellor in a specialist setting. A questionnaire was used to assess knowledge among parents and patients affected by galactosaemia and Maple Syrup Urine Disease (MSUD). Twenty seven families with galactosemia and 10 with MSUD were interviewed in clinic. Comparative analysis showed significant differences in knowledge between parents of children with galactosemia and adult patients (p = 0.001) and between ethnicities (p > 0.05). While parents are well informed, the majority expressed a wish for more information about the condition and its transmission. Adult patients with galactosemia and parents from certain ethnic backgrounds could especially benefit from genetic counselling. This study highlights the need for a genetic counsellor in specialist clinics.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Armstrong, D., Michie, S., & Martea, T. (1998). Revealed identity: a study of the process of genetic counseling. Social Science & Medicine, 47, 1653–1658.
Badawi, N., Cahalane, S. F., McDonald, M., Mulhair, P., Begi, B., O’Donohue, A., et al. (1996). Galactosemia—a controversial disorder. Screening and outcome. Ireland 1972-1992. Irish Medical Journal, 89, 16–17.
Callanan, K., Evans, D., & Syron, M. (2002). Health needs of Irish Travellers: Attitudes and perceptions of the Travelling Community in the Western Health Board. Report by Traveller Health Unit and Department of Public Health.
Census (2002). Principal demographic results. Central Statistics Office Ireland.
Conover, W. J. (1980). Practical nonparametric statistics (2nd ed., pp. 225–226). New York: Wiley.
Conway, S. P., Pond, M. N., Watson, A., & Hamnett, T. (1996). Knowledge of adult patients with cystic fibrosis about their illness. Thorax, 51, 34–38.
Forrest, L. E., Delatycki, M. B., Skene, L., & Aitken, M. A. (2007). Communicating genetic information in families—a review of guidelines and position papers. European Journal of Human Genetics, 15, 612–618.
Gaff, C. L., Clarke, A. J., Atkinson, P., Sivell, S., Elwyn, G., Iredale, R., et al. (2007). Process and outcome in communication of genetic information within families: a systematic review. European Journal of Human Genetics, 15, 999–1011.
Hames, A., Beesley, J., & Nelson, R. (1991). Cystic fibrosis: what do patients know, and what else would they like to know? Respiratory Medicine, 85, 389–392.
Henley, L. D., & Hill, I. D. (1990). Errors, gaps and misconceptions in disease-related knowledge of cystic fibrosis patients and their families. Pediatrics, 85, 1008–1014.
Holton, J. B., Walter, J. H., & Tyfield, L. A. (2001). Galactosemia. In C. R. Scriver, A. L. Beaudet, W. S. Sly, & D. Valle, (eds); B. Childs, K. W. Kinzler, & B. Vogelstein (assoc eds), The metabolic and molecular basis of inherited disease, 8th edn (pp. 1553–1583). New York: McGraw-Hill.
Lewis-Gary, M. D. (2001). Transitioning to adult health care facilities for young adults with a chronic condition. Pediatric Nursing ProQuest Nursing & Allied Health Source, 27, 521–524.
McCollum, A. T., & Gibson, L. E. (1970). Family adaptation to the child with cystic fibrosis. The Journal of Pediatrics, 77, 571–578.
Morton, D. H., Strauss, K. A., Robinson, D. L., Puffenberger, E. G., & Kelley, R. I. (2002). Diagnosis and treatment of Maple Syrup Disease: a study of 36 patients. Pediatrics, 109, 999–1008.
Murphy, M., Mchugh, B., Tighe, O., O’Neill, C., Naughten, E., & Croke, D. T. (1999). Genetic basis of transferase-deficient galactosemia in Ireland and the population history of the Irish Travellers. European Journal of Human Genetics, 7, 549–554.
National Adult Literacy Agency, NALA (2002) Health literacy research report.
National Society of Genetic Counselors (NSGC) http://www.nsgc.org.
Nolan, T., Desmond, K., Herlich, R., & Hardy, S. (1986). Knowledge of cystic fibrosis in patients and their parents. Pediatrics, 77, 229–235.
Rantanen, E., Hietala, M., Kristoffersson, U., Nippert, I., Schmidtke, J., Sequeiros, J., et al. (2008). What is ideal genetic counselling? A survey of current international guidelines. European Journal of Human Genetics, 16, 445–452.
Schweitzer-Krantz, S. (2003). Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosemia. European Journal of Pediatrics, 162, 50–53.
Simon, E., Schwarz, M., & Wendel, U. (2007). Social outcome in adults with maple syrup urine disease. Journal of Inherited and Metabolic Disease, 264, 113–116.
Traveller Health Issue (2001). The Journal of Health Gain 5.
Tuchman, L. K., Schwartz, L. A., Sawicki, G. S., & Britto, M. T. (2010). Cystic fibrosis and transition to adult medical care. Pediatrics, 125, 566–573.
Waggoner, D. D., Buist, N. R. M., & Donnell, G. N. (1990). Long-term prognosis in galactosemia: results of a survey of 350 cases. Journal of Inherited and Metabolic Disease, 13, 802–818.
Westwood, G., Pickering, R. M., Latter, S., Lucassen, A., Little, P., & Karen Temple, I. (2006). Feasibility and acceptability of providing nurse counsellor genetics clinics in primary care. Journal of Advanced Nursing, 53(5), 591–604.
Widerman, E. (2003). Knowledge, interests and educational needs of adults diagnosed with cystic fibrosis after the age 18. Journal of Cystic Fibrosis, 2, 97–104.
Author information
Authors and Affiliations
Corresponding author
Appendix
Appendix
Questionnaire for Parents of a child with Galactosemia/MSUD
Rights and permissions
About this article
Cite this article
O’Shea, R., Murphy, A.M., Treacy, E. et al. Communication of Genetic Information by Other Health Professionals: The Role of the Genetic Counsellor in Specialist Clinics. J Genet Counsel 20, 192–203 (2011). https://doi.org/10.1007/s10897-010-9337-6
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s10897-010-9337-6