The widescale availability of genomic sequencing in the NHS brings new possibilities for patients, but means new concepts, systems and processes for clinicians.
What is a rare disease, and when should clinicians consider genomic testing? What tests should you know about, and how do you order them? What happens in the genomic laboratory, and how are test results interpreted? And what are the implications of genomic test results for patients and their families?
Why take this course?
This course seeks to answer those questions, taking you through the background and context of genomic testing for rare disease and what it means for you, and your patients. You’ll be given insight into the current landscape of genomic testing in the NHS, as well as a practical step-by-step guide to requesting genomic tests and feeding back results.
Who is the course aimed at?
The course is aimed at NHS healthcare professionals who are involved in supporting patients with a confirmed or suspected rare disease. Other professionals and undergraduates who want to learn more about genomic testing in the NHS are also very welcome.
What will I learn?
The course will cover the following topics:
Week 1: Introducing rare disease, genomic testing and what it means for you
- Understanding rare disease
- Genomics and rare disease
- When to think about genomic testing
- Genomic technology: A changing landscape
- The road to a national genomic medicine service
Week 2: Your role: Requesting testing and dealing with results
- Introducing the testing pathway
- Is it genomic?
- Requesting genomic testing
- In the laboratory
- Receiving and understanding results
- Genomic testing and the wider family
How will I learn?
You will learn alongside many other online learners during a two-week period. During this time, you will develop your knowledge through textual content, video interviews, animation, discussion points and patient case studies. On completion of the course, you will have the opportunity to obtain a certificate of achievement.