Decoding diagnostics webinar series
In the world of rare diseases, navigating the diagnostic journey can often feel like a complex puzzle.
With 72% of rare diseases being genetic in nature, obtaining an accurate diagnosis is crucial for patients and their families.
However, the landscape of genetic testing and diagnosis can be daunting, filled with new terminology and processes.
Taking place across May and June 2024, our Decoding Diagnostics series will shed light on this journey, providing clarity and guidance to individuals and groups within the rare disease community.
Through a series of webinars and discussion sessions, we’ll explore the fundamental principles of genetic testing, delve into the methods and applications available, and provide practical insights on accessing, interpreting and supporting genetic diagnostic results.
With thanks to:
This 4-part webinar series was developed in collaboration with Illumina and Costello Medical.
With thanks to the Funders of The Empowerment Programme 2024
Resource type
Webinar
Duration
8 hours
Last updated
June 2024
Resource type
Webinar
Duration
8 hours
Date
June 2024
What will you learn in this webinar series?
Part one: Exploring the world of genetic testing
- The basics of genetic testing and rare disease diagnostics
- DNA, genes, and how changes in these components can lead to a rare condition
- The journey of DNA from clinic to lab
- The information each test provides and who is best suited to have that particular test
- The various genetic tests available and their insights into an individual’s genome and disease
- How to interpret results for patients and clinical teams
Part two: Navigating a genetic diagnosis
- The practical implications of receiving a genetic diagnosis and what comes next
- How patient groups have influenced and improved genetic diagnosic services
- Expectation management and support options for patients when the journey isn’t straightforward
- An overview of the genetic testing pathway in the UK
- The genetic counselling process
- How genetic tests inform treatment and care pathways
Who is this course for?
This free webinar series is primarily for rare disease patient groups, however anyone with an interest in improving their knowledge on diagnostics can benefit from this series.
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