You are seeing this message because your Web browser does not support basic Web standards. Find out more about why this message is appearing and what you can do to make your experience on this site better.


ABOUT JAMA
Advanced Search

Welcome   | My Account | E-mail Alerts | Access Rights | Sign In


  Vol. 278 No. 15, October 15, 1997 TABLE OF CONTENTS
  JAMA
  •  Online Features
  ARTICLE
 This Article
 •Send to a friend
 • Save in My Folder
 •Save to citation manager
 •Permissions
 Citing Articles
 •Citation map
 •Citing articles on HighWire
 •Contact me when this article is cited
 Related Content
 •Similar articles in JAMA

Prenatal genetic carrier testing using triple disease screening

C. M. Eng, C. Schechter, J. Robinowitz, G. Fulop, T. Burgert, B. Levy, R. Zinberg and R. J. Desnick
Department of Human Genetics, Mount Sinai School of Medicine, New York, NY 10029, USA. ceng@smtplink.mssm.edu

CONTEXT: Rapid progress in gene discovery has dramatically increased diagnostic capabilities for carrier screening and prenatal testing for genetic diseases. However, simultaneous prenatal carrier screening for prevalent genetic disease has not been evaluated, and patient acceptance and attitudes toward this testing strategy remain undefined. OBJECTIVE: To evaluate an educational, counseling, and carrier testing program for 3 genetic disorders: Tay-Sachs disease (TSD), type 1 Gaucher disease (GD), and cystic fibrosis (CF) that differ in detectability, severity, and availability of therapy. DESIGN: Potential participants received education and genetic counseling, gave informed consent, chose screening tests, and completed pre-education and posteducation questionnaires that assessed knowledge, attitudes toward genetic testing, and disease testing preferences. SETTING: Medical genetics referral center. PATIENTS: Volunteer sample of 2824 Ashkenazi Jewish individuals enrolled as couples who were referred for TSD testing. INTERVENTION: Genetic counseling, education, and if chosen, genetic testing for any or all 3 disorders. MAIN OUTCOME MEASURE: Acceptance of screening for each of the 3 disorders. Secondary outcomes include attitudes toward genetic testing and reproductive considerations. RESULTS: Of the 2824 individuals tested for TSD, 97% and 95% also chose testing for CF and GD, respectively. The frequency of detected carriers was 1:21 for TSD, 1 :25 for CF, and 1:18 for GD. Twenty-one carriercoupleswere identified, counseled, and all postconception couples opted for prenatal diagnosis. Pre-education and posteducation questionnaires revealed that patients initially knew little about the diseases, but acquired disease information and increased knowledge of genetic concepts. Education and genetic counseling increased understanding and retention of genetic concepts and disease-related information, and minimized test-related anxiety. Although individuals sought screening for all 3 diseases, reproductive attitudes and decisions varied directly with disease severity and treatability. CONCLUSIONS: These findings emphasize the importance of genetic counseling for prenatal carrier testing and may improve understanding, acceptance, and informed decision making for prenatal carrier screening for multiple genetic diseases.

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Carrier Screening for Gaucher Disease: Lessons for Low-Penetrance, Treatable Diseases
Zuckerman et al.
JAMA 2007;298:1281-1290.
ABSTRACT | FULL TEXT  

Dissecting a population genome for targeted screening of disease mutations
Pastinen et al.
Hum Mol Genet 2001;10:2961-2972.
ABSTRACT | FULL TEXT  

Gene testing in the biotech century: Are physicians ready?
Caulfield
CMAJ 1999;161:1122-1124.
FULL TEXT  

Report Card on Molecular Genetic Testing: Room for Improvement?
Grody and Pyeritz
JAMA 1999;281:845-847.
FULL TEXT  

Genetic Counseling Improves Decision Making
JWatch Women's Health 1997;1997:7-7.
FULL TEXT  





HOME | CURRENT ISSUE | PAST ISSUES | TOPIC COLLECTIONS | CME | SUBMIT | SUBSCRIBE | HELP
CONDITIONS OF USE | PRIVACY POLICY | CONTACT US | SITE MAP
 
© 1997 American Medical Association. All Rights Reserved.