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High school Tay–Sachs disease carrier screening: 5 to 11-year follow-up

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Abstract

The Melbourne high school Tay–Sachs disease (TSD) carrier screening program began in 1997. The aim of this study was to assess the outcomes of this screening program among those who had testing more than 5 years ago, to evaluate the long-term impact of screening. A questionnaire was used for data collection and consisted of validated scales and purposively designed questions. Questionnaires were sent to all carriers and two non-carriers for each carrier who were screened in the program between 1999 and 2005. Twenty-four out of 69 (34.8 %) carriers and 30/138 (21.7 %) non-carriers completed the questionnaire. Most participants (82 %) retained good knowledge of TSD and there was no evidence of a difference in knowledge between carriers and non-carriers. Most participants (83 %) were happy with the timing and setting of screening and thought that education and screening for TSD should be offered during high school. There was no difference between carriers and non-carriers in mean scores for the State Trait Anxiety Inventory and Decision Regret Scale. This evaluation indicated that 5–11 years post high school screening, those who were screened are supportive of the program and that negative consequences are rare.

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Acknowledgments

The authors thank the participants for completing the questionnaire. We thank the teachers and coordinators at the schools in which the program runs, and the Pratt Foundation for supporting the program.

Conflict of interest

MBD is a NHMRC Practitioner Fellow; SL is funded by a NHMRC Capacity Building Grant. There is no conflict of interest for any of the authors on this paper.

Ethics committee approval

This study was approved by the Royal Children's Hospital Human Research Ethics Committee (CA29176) and thus complies with the requirements for research conduct in Australia.

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Correspondence to Martin B. Delatycki.

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Curd, H., Lewis, S., Macciocca, I. et al. High school Tay–Sachs disease carrier screening: 5 to 11-year follow-up. J Community Genet 5, 139–146 (2014). https://doi.org/10.1007/s12687-013-0163-z

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  • DOI: https://doi.org/10.1007/s12687-013-0163-z

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