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The Perceived Advantages and Disadvantages of Presymptomatic Testing for Machado-Joseph Disease: Development of a New Self-Response Inventory

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Journal of Genetic Counseling

This study describes the construction of a self-response inventory to evaluate the perception of advantages and disadvantages of the Machado-Joseph disease presymptomatic testing, in 44 individuals at-risk for this disease. The results showed that the reliability of this inventory was satisfactory. Factor analysis revealed a bidimensional structure: perceived advantages (pros) and perceived disadvantages (cons) of presymptomatic testing. Social desirability was found unrelated to the total scores of our inventory. Additional correlation studies, with other scales, confirmed the convergent validity of the instrument. These results suggest adequate construct validity. This inventory thus seems to be a proper instrument to assess expectations involved in the decision-making process of Machado-Joseph disease presymptomatic testing.

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Notes

  1. The National Program of Presymptomatic Testing and Genetic Counseling in MJD was approved in 1995 and it began being implemented in January 1996. Along this first year, it was promoted the formation of national centers and the constitution of the respective teams as well as the elaboration of the consultation protocol. Still in the same year (1996) consultations had their beginning, as defined by the protocol, in four of the six centers. The balance of 1996 was positive, as this period corresponded to the implantation of the program and to the definition of its guiding principles, both in terms of investigation and clinical assistance.

  2. This classifying system is simple, objective and more accessible (Nunnally, 1978) for the majority of individuals, who are thus not faced with the difficulty of having to choose between too close answering (e.g., I completely agree and agree; I completely disagree and disagree). On the other hand, in Likert scales, the answers do not always express the true attitude of individuals, since many of them are led to answer the items in systematically extreme or neutral ways (Simões, 1987).

  3. Whereas some statisticians advise against the use of factor analysis with dichotomous variables (e.g., Gorsuch, 1983; Streiner, 1994), several other authors (Cattell, 1978; Kim and Mueller, 1978; Rummel, 1970) and extensive data show that it can be useful. Drawing a parallel with dummy variable regression, Cattell (1978) stated that a loading for 0–1 scaled variables can be interpreted in two ways: as the probability of its presence (if the loading is positive) or absence (if negative), given that the factor exists. Also, Kim and Mueller (1978) allow the use of factorial analysis with dichotomous data, if the underlying metric correlations between the variables are moderate (.70) or lower. This last condition was fulfilled (as we referred in the First Stage: Reliability Study), so it was possible to perform factor analysis.

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ACKNOWLEDGMENTS

We wish to acknowledge all subjects for their participation in this research and we are grateful for access to at-risk individuals provided by A. Freire Gonçalves and Cristina Januário, University of Coimbra Hospitals. We express our special gratitude to Alice Rolim for her help in the translation of the original paper into English. This work has been funded by the Portuguese Science and Technology Foundation (FCT) through a fellowship to LR (PRAXIS XXI/BM/12789/97).

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Authors and Affiliations

  1. Centro de Genética Preditiva e Preventiva (CGPP), Institute for Molecular and Cell Biology (IBMC), University of Porto, Campo Alegre, 823, 4150-180, Porto, Portugal

    Luísa Rolim, Jorge Sequeiros & Manuela Fleming

  2. Psychology and Sciences of Education College, University of Coimbra, Coimbra, Portugal

    José A. Zagalo-Cardoso

  3. ICBAS, University of Porto, Porto, Portugal

    Constança Paúl, Jorge Sequeiros & Manuela Fleming

  4. Centro de Genética Preditiva e Preventiva (CGPP), Institute for Molecular and Cell Biology (IBMC), University of Porto, Campo Alegre, 823, 4150-180, Porto, Portugal

    Luísa Rolim

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  1. Luísa Rolim
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  2. José A. Zagalo-Cardoso
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  3. Constança Paúl
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Correspondence to Luísa Rolim.

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This article is based on the master thesis of Luísa Rolim and some portions were presented at the European Meeting on Psychosocial Aspects of Genetics (June 12–15, 2004) in Munich, Germany. CGPP, IBMC (JS) is a partner of EuroGentest—Genetic Testing in Europe (www.eurogentest.org) and of PHGEN—Public Health Genomics Network (www.phgen.nrw.de).

Appendix: Perceived Advantages and Disadvantages of Presymptomatic Testing Inventory

Appendix: Perceived Advantages and Disadvantages of Presymptomatic Testing Inventory

INSTRUCTIONS: Next, you will find some reasons why you could decide taking or not taking the presymptomatic testing.

Signal with a cross (×) in the square referred as YES or NO, depending on your agreement or disagreement with the reason which is presented in each sentence.

In the end, see if you have answered all the questions.

Thank you very much for your collaboration!

Copyright 2000 by Rolim

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Rolim, L., Zagalo-Cardoso, J.A., Paúl, C. et al. The Perceived Advantages and Disadvantages of Presymptomatic Testing for Machado-Joseph Disease: Development of a New Self-Response Inventory. J Genet Counsel 15, 375–391 (2006). https://doi.org/10.1007/s10897-006-9033-8

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