Volume 10 Supplement 2
Familial Aspects of Cancer 2011 Research and Practice
When is it best to test? Attitudes of health professionals regarding genetic testing for Familial Adenomatous Polyposis (FAP)
© Lynch et al; licensee BioMed Central Ltd. 2012
Published: 12 April 2012
Familial Adenomatous Polyposis (FAP) is a well described autosomal dominant syndrome, whereby individuals develop multiple (up to thousands) of adenomatous polyps in the large bowel, conferring an extremely high risk of bowel cancer if left untreated.
If the family specific mutation is known, genetic testing can be offered to at risk individuals to determine the need for endoscopic surveillance. Guidelines suggest starting endoscopic surveillance from the early teens. Most individuals with FAP undergo colectomy between the ages of 15 and 25 years .
Recent studies have shown that many adults with FAP want their children to undergo genetic testing before the age of 12 years, the approximate age at which genetic testing is usually offered in Australia [2, 3].
Health professionals working in cancer genetics in Australia and New Zealand completed a web based survey aimed at examining their attitudes and experiences regarding genetic testing for young people at risk of FAP.
Findings from the survey provide an insight into the views and practices of health professionals working in this area, including: the age at which they believe testing young people is most appropriate; their experiences regarding parental requests for testing of younger children; and whether the option of prenatal testing and pre-implantation genetic diagnosis is routinely discussed with individuals who have FAP and are also of child bearing age. These have important implications for clinical practice within the Australian cancer genetics community.
- Vasen , et al.: Guidelines for the clinical management of familial adenomatous polyposis (FAP). Gut 2008, 57: 704–713. 10.1136/gut.2007.136127PubMedView ArticleGoogle Scholar
- Douma KF, et al.: Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis. Eur J Hum Genet 2010, 18: 186–193. 10.1038/ejhg.2009.151PubMed CentralPubMedView ArticleGoogle Scholar
- Andrews , et al.: Impact of familial adenomatous polyposis on young adults: attitudes toward genetic testing, support and information needs. Genet Med 2006, 8: 697–703. 10.1097/01.gim.0000245574.75877.b9PubMedView ArticleGoogle Scholar
This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.