Genomics in Primary Care: Rare Diseases and Their Impact

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IN THIS FIFTH EPISODE of Primary Care UK's six-part series on genomics, hosts Claire and Munir are joined by Anwar Khan and Sophia Varadkar to discuss the significance of rare diseases in the realm of primary care. The episode emphasizes the prevalence and impact of rare diseases, elaborating on how genomics can provide crucial insights for early diagnosis, treatment, and family counselling.
The discussion covers the importance of genetic testing, the role of primary care professionals in identifying and managing rare conditions, and the broader implications of equitable access to genetic services.
Special thanks to our guest speakers:

Dr Sophia Varadkar. Co-Medical Director North Thames Genomic Medicine Service, Deputy Medical Director and Consultant Paediatric Neurologist, Great Ormond St Hospital for Children NHS Foundation Trust, London
Dr Anwar Khan. GP with a Special Interest in Genomics.

SPONSOR: The Genomics mini-series was sponsored by, and co-produced with the North Thames Genomics Medicine Service

Useful links:

• National Genomics Education Programme – Knowledge Hub – What is rare disease? Click HERE
• National Genomics Education Programme – Primary Care - Presentation: Patient with a family history of sudden cardiac death. Click HERE
• National Genomics Education Programme – Knowledge Hub – The Generation Study. Click HERE
• NHS Race and Health Observatory - Ethnic inequities in genomics and precision medicine review report. Click HERE

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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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1. E45 Full Aud (00:00:00)

2. Introduction to Rare Diseases (00:00:47)

3. Understanding Rare Diseases and Their Prevalence (00:02:58)

4. Suspecting Rare Diseases in Primary Care (00:05:25)

5. Testing at the Specialist Clinic, and it's Benefit (00:06:41)

6. Generation Study: Newborn Screening and Genetic Research (00:09:02)

7. Case Studies: Rare but Treatable Epilepsies (00:14:18)

8. Counselling - Whose job? (00:16:58)

9. The Expert Patient (00:18:56)

10. Ethical Considerations and Equity in Genetic Testing (00:22:14)

11. Summary: Prevention is at the Heart of Primary Care (00:30:09)

12. Summary and Future Topics: Pharmacogenetics (00:32:23)