Familial Hypercholesterolaemia Genomics - Urgent for Primary Care

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Imagine you had a time-bomb inside your body ticking away... now imagine that your GP surgery had the ability to detect it and defuse it, but didn't. How would that make you feel?
Familial hypercholesterolaemia is common and dangerous without treatment, yet most cases remain undiagnosed. The condition highlights the key role that primary care plays in terms of genomics.
IN THIS EPISODE Claire and Munir speak with those who have a clear insight into FH as a genomics condition, what you working in primary care can and should do, and that it's really not that difficult.
There is also brief coverage of Cystic Fibrosis, which in fact is one of three conditions where primary care has direct access to genetics.

Special thanks to our guest speakers:

Dominic Studdart, specialist Genomics nurse
Anwar Khan, GP with special interest in Genomics.

SPONSOR: The Genomics series is sponsored by the North Thames Genomics Medicine Service.

Useful links: Genomics episode links (primarycareuk.org)
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Chapter

1. Familial Hypercholesterolaemia Genomics - Urgent for Primary Care (00:00:00)

2. High cholesterol is our responsibility (00:01:13)

3. This episode (00:01:27)

4. What is Familial Hypercholesterolaemia? (00:06:14)

5. How to detect Familial Hypercholesterolaemia (00:10:14)

6. Think about the family (00:15:48)

7. Management of FH (00:23:35)

8. Cystic Fibrosis (00:26:00)

9. Take-home messages (00:29:38)