Aug 15 2024 35 mins
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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