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In our penultimate episode of the season, we begin by discussing the counselling issues and interventions raised in episode 3: Opening the envelope. We’ll then present this week’s case, where the GC faced a difficult situation in predictive test counselling for an adult-onset condition without any treatments. 

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Sound engineer: Shaun Allen

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References mentioned in our discussion:

  • Crook et al., (2022). Genetic counseling and testing practices for late-onset neurodegenerative disease: A systematic review. Journal of Neurology. https://doi.org/10.1007/s00415-021-10461-5 

  • Guimarães, et al. (2013). What Counts as Effective Genetic Counselling for Presymptomatic Testing in Late-Onset Disorders? A Study of the Consultand’s Perspective. Journal of Genetic Counseling  https://doi.org/10.1007/s10897-012-9561-3 

  • Howard, et al., (2024). Experiences of predictive genetic testing in inherited motor neuron disease: Findings from a qualitative interview study. Journal of Genetic Counseling. https://doi.org/10.1002/jgc4.1904  

  • MacLeod et al., (2013). Editorial Committee and Working Group ‘Genetic Testing Counselling’ of the European Huntington Disease Network. Recommendations for the predictive genetic test in Huntington's disease. Clinical Genetics. https://doi.org/10.1111/j.1399-0004.2012.01900.x

  • Vears, et al., (2020). Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children. Twin Research and Human Genetics. https://doi.org/10.1017/thg.2020.51

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