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