ACCE Model System for Collecting, Analyzing and Disseminating Information on Genetic Tests
National Office of Public Health Genomics, CDC

Five tests for different disorders have been evaluated for the components of analytical validity, clinical validity, clinical utility, and related ethical/legal/social issues. The key goal of this effort was to facilitate the appropriate transition of genetic tests from investigational settings to use in clinical and public health practice. This goal was consistent with preliminary recommendations of the Department of Health and Human Services Secretary's Advisory Committee on Genetic Testing.

Draft Genetic Test Reviews
Final drafts of component sections of Genetic Test Reviews are posted online for viewing.  Full titles of the five reviews are listed below and references for peer reviewed journal articles derived from these drafts are provided. The matrix below indicates components that are currently available in Acrobat PDF and/or HTML formats.  Click on the corresponding check mark icon to view.  For those sections available in PDF format, you will need Free Adobe Acrobat Software .

Readers are welcome to e-mail comments to FBR at fbrinfo@fbr.org .  Please indicate the title of the Genetic Test Review in the subject heading of your e-mail.

Cystic Fibrosis1 Hemochromatosis2 Venous Thromboembolism3 Breast & Ovarian Cancer4 Colorectal Cancer5 Introduction (Genetic Test Brief) N/A N/A N/A (93KB) Disorder & Setting (217KB) (163KB) Analytic Validity   (61KB) (100KB) Clinical Validity (532KB) (166KB) (185KB) Clinical Utility N/A (189KB) (485KB) (214KB) Ethical, Legal & Social Issues (181KB) N/A N/A N/A (42KB) Master Reference List and Glossary N/A N/A N/A (188KB)

¹ Prenatal Screening for Cystic Fibrosis via CFTR Carrier Testing
² Screening for Hereditary Hemochromatosis in Adults via HFE Mutation Testing
³ Testing for Factor V Leiden and Prothrombin Mutations as a Risk Factor for Recurrent Venous Thrombosis in Adults
⁴Family History and BRCA 1/2 Testing for Identifying Women at Risk for Inherited Breast/Ovarian Cancer
⁵ DNA Testing Strategies Aimed at Preventing HNPCC

References

1. Palomaki GE, Haddow JE, Bradley LA, Fitzsimmons SC. Updated assessment of cystic fibrosis mutation frequencies in non-Hispanic Caucasians. Genet Med 2002; 4:90-4.
2. Richards CS, Bradley LA, Amos J, Allitto B, Grody WW, Maddalena A, McGinnis MJ, Prior TW, Popovich BW, Watson MS. Standards and Guidelines for CFTR Testing. Genet Med 2002; 4:379-91.
3. Haddow JE, Palomaki GE. ACCE: A Model Process for Evaluating Data on Emerging Genetic Tests. In: Human Genome Epidemiology: A Scientific Foundation for Using Genetic Information to Improve Health and Prevent Disease. Khoury M, Little J, Burke W (eds.), Oxford University Press, pp. 217-233, 2003.
4. Palomaki GE, Bradley LA, Richards CS, Haddow JE. Analytic validity of cystic fibrosis testing: A preliminary estimate. Genet Med 2003; 5:15-20.
5. Palomaki GE, Bradley LA, Richards CS, Haddow JE. Analytic validity of cystic fibrosis testing: A preliminary estimate. Genet Med 2003; 5:15-20.
6. Palomaki GE, Haddow JE, Bradley LA, Richards CS, Stenzel TT, Grody WW. Estimated analytic validity of HFE C282Y mutation testing in population screening: The potential value of confirmatory testing. Genet Med 2003;5:440-3.
7. Haddow JE, Palomaki GE, McClain M, Craig W: Hereditary hemochromatosis and hepatocellular carcinoma in males: a strategy for estimating the potential for primary prevention. J Med Screen 2003;10:11-13.
8. Palomaki GE, FitzSimmons SC , Haddow JE: Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med 2004;6:405-414.
9. Watson MS, Cutting GR, Desnik RJ, Driscoll DA, Klinger K, Mennuti M, Palomaki GE, Popovich BW, Pratt VM, Rohlfs EM, Strom CM, Richards CS, Witt DR, Grody WW: Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. Genet Med 2004;6:387-391.
10. McClain MR, Palomaki GE, Nathanson KL, Haddow JE: Adjusting the estimated proportion of breast cancer cases associated with BRCA1 and BRCA2 mutations: public health implications. Genet Med 2005;7:28-33.
11. McClain MR, Nathanson KL, Palomaki GE, Haddow JE: An evaluation of BRCA1 and BRCA2 founder mutations penetrance estimates for breast cancer among Ashkenazi Jewish women. Genet Med 2005;7:34-9.

Use the Genomics and Disease Prevention Information System (GDPInfo)to find relevant documents on genetic testing or the above disorders. Create a search in GDPInfo by topic (use check boxes), by disease (use disease menu) or a combination of both criteria.   Search Now.

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