Genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC)
Institute for Clinical Systems Improvement
Record ID 32003000552
English
Authors' objectives:
This review aims to assess the available evidence on the effectiveness of genetic testing for hereditary nonpolyposis colorectal cancer (HNPCC).
Authors' recommendations:
With regard to genetic testing for hereditary nonpolyposis colon cancer (HNPCC) the ICSI Technology Assessment Committee finds:
Genetic testing of HNPCC can reduce the number of surveillance colonoscopies and help target surveillance at high-risk patients (Conclusion Grade II), however, studies of the effect of genetic testing of HNPCC on more substantial outcomes such as mortality are limited. Further studies are needed to determine more substantial medical benefits of genetic testing for HNPCC.
Genetic testing requires pre- and post-test genetic counseling and written informed consent for both affected and at-risk individuals. Individuals who appear to be at-risk for HNPCC should be referred to a center with expertise in cancer genetics. Laboratory testing should be done by a reliable reference laboratory with experience in MSI, IHC, and germline testing. Genetic testing in HNPCC is acceptably safe when these criteria are met.
Criteria exist (see Potential Uses) to help determine who should be tested. Testing is not indicated for patients with sporadic colorectal cancer or family members of patients with sporadic colorectal cancer. Testing is also not indicated for mass screening of the general population.
If germline mutation analysis indicates a deleterious mutation, genetic testing of at-risk family members can provide true positive and negative results. If no deleterious mutation is found in the affected person, genetic testing of at-risk family members will only provide inconclusive results.
Authors' methods:
Review
Details
Project Status:
Completed
URL for project:
http://www.icsi.org/index.asp
Year Published:
2002
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Colorectal Neoplasms, Hereditary Nonpolyposis
Contact
Organisation Name:
Institute for Clinical Systems Improvement
Contact Address:
8009 34th Avenue South, Suite 1200, Bloomington, MN, USA. Tel: +1 952 814 7060; Fax: +1 952 858 9675
Contact Name:
icsi.info@icsi.org
Contact Email:
icsi.info@icsi.org
Copyright:
Institute for Clinical Systems Improvement (ICSI)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.