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Episodes listed in reverse chronological order

Episode 81 (Associate Professor Daniel Navon)

HOW DO GENETIC TESTS ANSWER QUESTIONS ABOUT NEURODEVELOPMENTAL DIFFERENCES? A SOCIOLOGICAL TAKE


Reflections on this episode (Dr Pool)


This was a very insightful conversation on an area that is very topical and central to many conversations we may be having with families as they navigate through the world of genetic testing. Admittedly, though I have been hearing more and more about genetic testing in recent years, I still feel like I’m playing catch up. It’s a bit of a black box with many unknowns so this paper couldn’t have come at a better time. 


Genetic testing can provide some compelling answers especially when it comes to neurodevelopmental differences. But when we really delve into it, what is a genetic test supposed to tell us?  This paper brings some important questions to the forefront like: 


What is this person’s diagnosis? 

What problems and developmental differences is this person likely to experience? 

What is the best way to approach their development, treatment and care? and,

Will they have a life worth living? 


Daniel sets the scene that aims to unpack these questions by looking at the history behind them and the ways they are asked. This paper provides a sociological take on the way a clinical genetic test result can reshape our approach to neurodevelopmental differences. 


As a physiotherapist, the exact genetic difference makes very little impact on my ability to create a suitable program for children to reach their goals. With more knowledge now than ever about what green light interventions are and what the key ingredients that need to be added to the mix are, the perspective that I take is less diagnostic specific and more strengths based. However, for parents who may be looking for answers as they embark on a diagnostic odyssey, a genetic test result can ease the burden and provide an opportunity to move forward. 


Perspective is ever so important and so a genetic test result can mean different things to different people. For a person that may have a genetic diagnosis, early treatment may be life saving but what is also important to acknowledge is that a genetic test may not necessarily describe a person’s functional capacity. Leaving room for growth and hope is part of the conversation and as the complexity and availability of genetic testing grows in our community, we must be prepared to ask these vital questions.


If you would like more information on this area from a world renowned expert, Daniel has a book which can be purchased online.


Mobilizing Mutations: Human Genetics in the Age of Patient Advocacy

https://press.uchicago.edu/ucp/books/book/chicago/M/bo40850643.html 


To receive a 30% discount on the purchase of the book, simply use the code NAVON.

developmental medicine and child neurology

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Episodes 82 to 110 were recorded live at eacd2023 in ljubljana slovenia

Please visit the EACD2023 section of our website for all the information on the special series of episodes that were recorded in the main conference exhibition hall throughout the European Academy of Childhood Disability Conference 2023 held in Ljubljana, Slovenia.

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The ResearchWorks Podcast

Recorded at the RW Studio at the Healthy Strides Foundation, East Victoria Park, WA 6101, Australia

+61 8 6109 2938

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Season 5!

This week, we catch up with Álvaro Hidalgo-Robles!


Identifying and Evaluating Young Children with Developmental Central Hypotonia: An Overview of Systematic Reviews and Tools

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