Economic Evaluation of the Familial Cancer Programme in Western Australia: Predictive Genetic Testing for Familial Adenomatous Polyposis and Hereditary Non-Polyposis Colorectal Carcinoma

2006 ◽  
Vol 9 (2) ◽  
pp. 98-106 ◽  
Author(s):  
N. Breheny ◽  
E. Geelhoed ◽  
J. Goldblatt ◽  
H. Ee ◽  
P. O’Leary
Keyword(s):  
Economic Evaluation ◽  
Genetic Testing ◽  
Familial Adenomatous Polyposis ◽  
Colorectal Carcinoma ◽  
Western Australia ◽  
Familial Cancer ◽  
Predictive Genetic Testing ◽  
Adenomatous Polyposis

scholarly journals Cost comparison of predictive genetic testing versus conventional clinical screening for familial adenomatous polyposis

Gut ◽  
1999 ◽  
Vol 44 (5) ◽  
pp. 698-703 ◽  
Author(s):  
B Bapat ◽  
H Noorani ◽  
Z Cohen ◽  
T Berk ◽  
A Mitri ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Familial Adenomatous Polyposis ◽  
Family Members ◽  
Screening Strategy ◽  
Predictive Genetic Testing ◽  
Cost Comparison ◽  
Adenomatous Polyposis ◽  
Clinical Screening ◽  
The Cost

BACKGROUNDMutations of theAPC gene cause familial adenomatous polyposis (FAP), a hereditary colorectal cancer predisposition syndrome.AIMSTo conduct a cost comparison analysis of predictive genetic testing versus conventional clinical screening for individuals at risk of inheriting FAP, using the perspective of a third party payer.METHODSAll direct health care costs for both screening strategies were measured according to time and motion, and the expected costs evaluated using a decision analysis model.RESULTSThe baseline analysis predicted that screening a prototype FAP family would cost $4975/£3109 by molecular testing and $8031/£5019 by clinical screening strategy, when family members were monitored with the same frequency of clinical surveillance (every two to three years). Sensitivity analyses revealed that the genetic testing approach is cost saving for key variables including the kindred size, the age of screening onset, and the cost of mutation identification in a proband. However, if theAPC mutation carriers were monitored at an increased (annual) frequency, the cost of the genetic screening strategy increased to $7483/£4677 and was especially sensitive to variability in age of onset of screening, family size, and cost of genetic testing of at risk relatives.CONCLUSIONSIn FAP kindreds, a predictive genetic testing strategy costs less than conventional clinical screening, provided that the frequency of surveillance is identical using either strategy. An additional significant benefit is the elimination of unnecessary colonic examinations for those family members found to be non-carriers.

scholarly journals Colonic Interposition in a Woman with Attenuated Familial Adenomatous Polyposis: Does the Location of the Colon Affect Polyp Formation?

2008 ◽  
Vol 22 (7) ◽  
pp. 634-636 ◽  
Author(s):  
Melanie D Beaton ◽  
Brian Taylor ◽  
David Driman ◽  
Peter Ainsworth ◽  
Paul C Adams
Keyword(s):  
Colorectal Cancer ◽  
Genetic Testing ◽  
Gastrointestinal Tract ◽  
Familial Adenomatous Polyposis ◽  
Colorectal Carcinoma ◽  
Esophageal Atresia ◽  
Adenomatous Polyposis ◽  
Lower Gastrointestinal Tract ◽  
Colonic Interposition ◽  
Attenuated Familial Adenomatous Polyposis

Attenuated familial adenomatous polyposis (AFAP) is a rare but well-established cause of colorectal carcinoma and multiple polyps. The present paper describes a case of a woman diagnosed with colorectal cancer at 34 years of age and subsequently found to have AFAP by genetic testing. During infancy, the patient underwent surgical correction of esophageal atresia with colonic interposition. While she had developed adenomatous polyps in her native cecum, there was no evidence of polyps or cancer in the segment of large intestine interposed between her upper esophagus and stomach. Therefore, various environmental differences between the upper and lower gastrointestinal tract may play a role in the expression of AFAP phenotype.

Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia

1995 ◽  
Vol 162 (9) ◽  
pp. 464-467 ◽  
Author(s):  
Ian R Walpole ◽  
Jack Goldblatt ◽  
Deborah A Kool ◽  
Ted Edkins ◽  
Rhona Creegan ◽  
...  
Keyword(s):  
Familial Adenomatous Polyposis ◽  
Gene Mutation ◽  
Genetic Counselling ◽  
Mutation Analysis ◽  
Western Australia ◽  
Adenomatous Polyposis ◽  
Gene Mutation Analysis

Psychosocial issues in genetic testing for familial adenomatous polyposis: a review of the literature

2008 ◽  
Vol 17 (8) ◽  
pp. 737-745 ◽  
Author(s):  
K. F. L. Douma ◽  
N. K. Aaronson ◽  
H. F. A. Vasen ◽  
E. M. A. Bleiker
Keyword(s):  
Genetic Testing ◽  
Familial Adenomatous Polyposis ◽  
Psychosocial Issues ◽  
Adenomatous Polyposis ◽  
Review Of The Literature
Sign in / Sign up

Export Citation Format

Share Document