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NIH Apr 1, 1993 | R01
Genetic Testing in the Ashkenazi Jewish Population
Institution: Mount Sinai School of Medicine
FOA Number: N/A
Abstract
The objective of this research is to conduct and evaluate a pilot program for the simultaneous screening of carriers for CF, Tay Sachs Disease (TSD) and Gaucher's Disease (GD) in the Ashkenazi Jewish population. This ethnic group is unique since 95 percent of CF and GD carriers can be detected, providing the rationale to introduce CF and GD screening in conjunction with TSD carrier screening programs. This pilot study will address issues of education, improved and cost effective test methods, effective counseling and potential psychologic harm, as well as ethical and health policy considerations. 10,000 Ashkenazi Jewish participants (about 5,000 couples) will be recruited for the study. Comparison of screening for these diseases will permit identification of screening issues related to differences in disease severity, availability of treatment, and detection accuracy for carrier couples.
FUNDING AGENCY:
Funder:
NIHInstitute:
NATIONAL HUMAN GENOME RESEARCH INSTITUTEFunding Type:
R01Project Number:
R01HG000644Start Date:
Apr 1, 1993End Date:
Mar 31, 1996PROJECT TERMS:
Amniocentesis, Anxiety, chorionic villus sampling, Cystic Fibrosis, Cytogenetics, depression, disease carrier state, Ethics, family genetics, Family Planning, Gaucher's disease, gel electrophoresis, Genetic Counseling, genetic disorder diagnosis, Health education, health related legal, human subject, Jewish, mass screening, polymerase chain reaction, Prenatal Diagnosis, psychological tests, Questionnaires, Tay Sachs disease
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