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Welcome to week 2

Dr Catherine Millington-Sanders and Dr Will Evans welcome you to week 2 where you will learn about rare genetic diseases.
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Hello again. I’m Dr. Catherine Millington-Sanders and welcome to week two of Genomics Scenarios in Primary Care. This week we’re going to look at rare diseases. And from my perspective as a GP, it feels like with advancements in genetic testing, we’re seeing more people for whom testing is available. And this is only likely to continue. And so we need to be prepared and feel confident to answer common queries we may get asked for advice by our patients in primary care. To help us learn more about these areas, I would like to introduce my colleague, Dr. Will Evans. My name is Will Evans. I’m a GP in Leeds and a research fellow at the University of Nottingham.
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This week, we will discuss rare diseases and follow two rare disease patient scenarios. Firstly, a couple who attend for preconception advice, concerned about their risk of having a child affected by a rare genetic disease. And then a young adult with a pattern of clinical features that makes you suspicious they may have an undiagnosed rare disease. So Will, why are rare diseases important to primary care? Rare diseases are individually rare, but collectively common. By definition, each rare disease affects fewer than one in 2000 individuals. But with more than 7,000 rare diseases, one in 17 people are affected by a rare disease during their lifetime. An incidence similar to asthma.
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With more than 2/3 of rare diseases genetic in origin, a grounding in genomics is important to ensure we are in a position to help and support these patients. Together we will follow the patient’s journey through primary and secondary care and highlight the role of clinical genetics. We will explore when to be suspicious of rare diseases and introduce you to tools and strategies that can help doctors identify and support these patients. We will look at several genomic concepts, as well as the role of genetic testing, emphasising which clinicians typically performs each test and when it might be done. And then we touch on how rare diseases are managed, including some of the recent advances in genomic treatments.
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Please let us know how you get on by participating in the discussion sections. And we hope you enjoy the course. Thank you, Will. That sounds like it will be fascinating. And as always, please let us know how you get on by participating in the discussion sections. And we hope you continue to enjoy the course.

Welcome to week 2. This week we are going to explore Genomics in the context of Rare diseases.

This may be for many GPs their principal exposure to Genomics. The work up of a child in their practice with a complex paediatric onset disease., the GP receiving hospital correspondence explaining a range of tests performed by the paediatrician, specialist and geneticist.

Although Rare diseases are by definition rare, with approximately 8000 rare diseases, collectively they are common. They share common management principles and utilise the core primary care skills of care co-ordination and managing complex chronic disease. Most are genetic and many are significant life limiting, multisystemic diseases.

We look forward to hearing from you in the discussions this week.

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Genomic Scenarios in Primary Care

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