Genetic carrier testing for cystic fibrosis
Institute for Clinical Systems Improvement
Record ID 32003000551
English
Authors' objectives:
This review aims to assess the available evidence on the effectiveness of genetic carrier testing for cystic fibrosis.
Authors' recommendations:
With regard to genetic carrier testing for cystic fibrosis the ICSI Technology Assessment Committee finds:
Genetic carrier testing for CF should be offered to individuals planning a pregnancy or seeking prenatal care if they have a family history of CF, if they are reproductive partners of individuals who have CF, or if they or their partner are Caucasian (including Ashkenazi Jews).
Information about genetic carrier testing for CF should be provided and testing should be made available to couples in other racial and ethnic groups who are planning a pregnancy or seeking prenatal care.
Genetic carrier testing for cystic fibrosis requires pre-test counseling and informed consent. All tested individuals should be informed of their result and given an interpretation of the result. For couples who both test positive, formal genetic counseling should be done. Laboratory testing should be done by a reliable reference laboratory with experience in molecular testing and that complies with the quality assurance guidelines developed by the American College of Medical Genetics and the College of American Pathologists. Genetic carrier testing for cystic fibrosis is acceptably safe when these criteria are met.
A typical panel does not include all possible mutations. However, based on the ACOG/ACMG panel of 25 mutations, genetic testing sensitivities (false negative rates) are approximately: 97% (3%) Ashkenazi Jewish, 80% (20%) European Caucasian, 57% (43%) Hispanic American, and 69% (31%) African American (Conclusion Grade III). Testing specificities are about 100% assuming stringent quality assurance.
Authors' methods:
Review
Details
Project Status:
Completed
URL for project:
http://www.icsi.org/index.asp
Year Published:
2003
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
United States
MeSH Terms
- Cystic Fibrosis
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.