Event Resources

Genomics in Primary Care

Original event date: 9th July 2022

In this West Kent Training Hub evening event, Dr Will Evans talks to us about how genomic medicine impacts us in primary care. He recaps some of the basics of genetics and then discusses the relevance to cancer, rare disease (which are collectively not that rare!) and then prescribing. He finishes the session with a brief discussion around direct to consumer genetic testing, pitfalls and the NHS stance on such tests.

Speaker - Dr Will Evans

Dr Evans is a GP in Leeds with a special interest in Genomic medicine. He additionally has a research role with the University of Nottingham.

Related Links

Timestamps

  • 00:00:00 - What is Genomics
  • 00:02:28 - Aims and Objectives
  • 00:03:54 - Genetics Vs. Genomics
  • 00:04:54 - The scope of the genome
  • 00:06:32 - A recap of some relevant basic biology
  • 00:11:26 - Normal person to person variation in the human genome
  • 00:13:15 - The scope of genetics in primary care
  • 00:14:04 - Cancer genomics in primary care
  • 00:17:05 - Key inherited cancer syndromes (BRCA and Lynch)
  • 00:18:44 - Case study in genetic cancer risk
  • 00:21:10 - Using qGenome to assess familial cancer risk
  • 00:22:10 - Near population and above population risk in breast cancer and why it matters
  • 00:25:39 - Secondary care management of ‘above population risk’ in breast cancer
  • 00:28:36 - Recap on modes of inheritance (BRCA genes)
  • 00:32:47 - Those with a family history of ovarian cancer
  • 00:34:42 - Those with a family history of colorectal cancer
  • 00:37:46 - Rule of thumb for referring those with a family history of cancer
  • 00:38:18 - Pharmacogenomics
  • 00:46:41 - Gene variations affecting commonly prescribed medications
  • 00:50:28 - Incorporating genomic information into drug choice (the likely future landscape)
  • 00:52:30 - Rare disease in primary care
  • 00:54:00 - The ‘diagnostic odyssey’ of rare disease and why diagnose them?
  • 00:55:23 - Evolving methods to diagnose rare disease - when to re-visit diagnoses
  • 00:57:11 - Why we in primary care are in a good position to diagnose rare disease
  • 00:58:30 - The GENES tool to help recognise rare disease
  • 00:58:50 - Summary
  • 00:59:56 - Direct to consumer testing - accuracy and RCGP position statement
  • 01:02:32 - Take home messages
  • 01:03:13 - Resources
  • 01:05:15 - Questions
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