Tay-Sachs disease carrier screening

A 21-year experience

G. D'Souza, C. L. McCann, J. Hedrick, C. Fairley, H. L. Nagel, Jessica Kushner, R. Kessel

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

This paper presents the findings of a community-based carrier screening program for Tay-Sachs disease, initiated on the University of Wisconsin-Madison campus in 1978. The Madison Community Tay-Sachs Screening Program (MCTSSP) is a collaborative, interdisciplinary program that organizes and conducts periodic screening for Tay-Sachs disease (TSD) for the purpose of identifying Tay-Sachs carriers. We present and analyze data on cartier detection with regard to various demographics, including family history of TSD, ancestry, gender, medication exposure, and illness. Individuals participating in the MCTSSP between 1978 and 1999 were primarily of the target population, and the carrier rate was within the expected range (1/25). Despite aggressive publicity efforts and a well-established program, attendance at the screens has declined. A recent survey of Jewish undergraduate students at the University of Wisconsin-Madison showed poor recall of family screen history and carrier status and reinforced the perception that utilization of the Madison screening program has been low. Ways to increase awareness of and interest in carrier screening for TSD are explored.

Original languageEnglish (US)
Pages (from-to)257-263
Number of pages7
JournalGenetic Testing
Volume4
Issue number3
DOIs
StatePublished - Dec 7 2000
Externally publishedYes

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Tay-Sachs Disease
Health Services Needs and Demand
History
Demography
Students

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

D'Souza, G., McCann, C. L., Hedrick, J., Fairley, C., Nagel, H. L., Kushner, J., & Kessel, R. (2000). Tay-Sachs disease carrier screening: A 21-year experience. Genetic Testing, 4(3), 257-263. https://doi.org/10.1089/10906570050501470

Tay-Sachs disease carrier screening : A 21-year experience. / D'Souza, G.; McCann, C. L.; Hedrick, J.; Fairley, C.; Nagel, H. L.; Kushner, Jessica; Kessel, R.

In: Genetic Testing, Vol. 4, No. 3, 07.12.2000, p. 257-263.

Research output: Contribution to journalArticle

D'Souza, G, McCann, CL, Hedrick, J, Fairley, C, Nagel, HL, Kushner, J & Kessel, R 2000, 'Tay-Sachs disease carrier screening: A 21-year experience', Genetic Testing, vol. 4, no. 3, pp. 257-263. https://doi.org/10.1089/10906570050501470
D'Souza G, McCann CL, Hedrick J, Fairley C, Nagel HL, Kushner J et al. Tay-Sachs disease carrier screening: A 21-year experience. Genetic Testing. 2000 Dec 7;4(3):257-263. https://doi.org/10.1089/10906570050501470
D'Souza, G. ; McCann, C. L. ; Hedrick, J. ; Fairley, C. ; Nagel, H. L. ; Kushner, Jessica ; Kessel, R. / Tay-Sachs disease carrier screening : A 21-year experience. In: Genetic Testing. 2000 ; Vol. 4, No. 3. pp. 257-263.
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