Journal article

Problems assessing uptake of Huntington disease predictive testing and a proposed solution

Roslyn J Tassicker, Betty Teltscher, M Kaye Trembath, Veronica Collins, Leslie J Sheffield, Edmond Chiu, Lyle Gurrin, Martin B Delatycki

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2009

Abstract

The uptake of predictive testing for Huntington disease informs our understanding of decision making by those at risk and assists with planning for service provision. Uptake figures have been reported from several centers based on the total number of people who have undertaken predictive testing as a percentage of those estimated to be at 50% risk in the region. This method produced a figure of 35% from our own service, much higher than observation of the local pedigrees indicated, and higher than other published reports. We have identified some errors in the commonly used formula. The major errors are the use of the cumulative total of those who have had testing with a static denominator of..

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Funding Acknowledgements

We thank Pamela Marshall, Social Worker in Predictive Testing, Huntington Disease Service, Launceston General Hospital, whose astute clinical observations and concern about uptake calculations also prompted this paper; and for comment on the text. We also thank Mavis Tassicker for comment on statistical concepts. MB Delatycki is a National Health and Medical Research Council Practitioner Fellow.