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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DISCLAIMER: This podcast is aimed at specified categories of clinical staff working in the UK, and the content provided is both time and location specific. The aim is to ensure information is accurate, up-to-date and comprehensive, but this is not guaranteed. Hosts, other contributors, and the organisations they represent do not accept liability for any actions, consequences or effects that result, directly or indirectly from the information provided.
Specifically, this podcast is NOT intended for use by the general public or patients and must not be used as a substitute for seeking appropriate medical or any other advice. Views expressed are the opinion of the speakers, is general advice only and should not be used as a substitute for seeking advice from a specialist. Healthcare professionals accessing information must use their own professional judgement, and accept full responsibility when interpreting the information and deciding how best to apply it, whether for the treatment of patients, or for other purposes.
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Kapitel

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)