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Education and testing strategy for large‐scale cystic fibrosis carrier screening
Author(s) -
Tatsugawa Zina H.,
Fox Michelle A.,
Fang Carolyn Y.,
Novak Jessica M.,
Cantor Rita M.,
Bass Harold N.,
DunkelSchetter Christine,
Crandall Barbara F.,
Grody Wayne W.
Publication year - 1994
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/bf01412373
Subject(s) - genetic counseling , psychosocial , population , medicine , genetic testing , carrier testing , scale (ratio) , public health , family medicine , pathology , genetics , biology , environmental health , psychiatry , prenatal diagnosis , pregnancy , fetus , physics , quantum mechanics
Population‐based screening for cystic fibrosis carrier mutations presents a number of challenges for genetic counselors, owing primarily to the inability of current DNA testing technology to identify all possible mutations and the difficulty involved in conveying the concept of residual risk to those patients who test negative. To address these issues, we are conducting a pilot study, as part of a consortium established by the National Center for Human Genome Research, to explore the efficacy, acceptance, and psychosocial impact of various approaches to carrier screening in an ethnically diverse Southern California population. This article reports the patient instructional and screening strategies we developed in the initial phase of the project in order to optimize our chances of answering these questions and delivering this service on a large scale.