“You're one of us now”: Young people describe their experiences of predictive genetic testing for Huntington disease (HD) and familial adenomatous polyposis (FAP)

2008 ◽  
Vol 148C (1) ◽  
pp. 47-55 ◽  
Author(s):  
Rony E. Duncan ◽  
Lynn Gillam ◽  
Julian Savulescu ◽  
Robert Williamson ◽  
John G. Rogers ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Young People ◽  
Familial Adenomatous Polyposis ◽  
Huntington Disease ◽  
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.

“Holding your breath”: Interviews with young people who have undergone predictive genetic testing for Huntington disease

2007 ◽  
Vol 143A (17) ◽  
pp. 1984-1989 ◽  
Author(s):  
Rony E. Duncan ◽  
Lynn Gillam ◽  
Julian Savulescu ◽  
Robert Williamson ◽  
John G. Rogers ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Young People ◽  
Huntington Disease ◽  
Predictive Genetic Testing

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

scholarly journals A Randomized Placebo-Controlled Prevention Trial of Aspirin and/or Resistant Starch in Young People with Familial Adenomatous Polyposis

2011 ◽  
Vol 4 (5) ◽  
pp. 655-665 ◽  
Author(s):  
John Burn ◽  
D. Timothy Bishop ◽  
Pamela D. Chapman ◽  
Faye Elliott ◽  
Lucio Bertario ◽  
...  
Keyword(s):  
Young People ◽  
Familial Adenomatous Polyposis ◽  
Resistant Starch ◽  
Prevention Trial ◽  
Adenomatous Polyposis
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