Mitochondrial disease
Watch the video where Dr Evans interviews Dr Andrew Schaefer, a mitochondrial disease expert. Dr Schaefer is Consultant Neurologist and Adult Clinical Lead at Wellcome Centre for Mitochondrial Research in …
Course: Genomic Scenarios in Primary Care
Polygenic risk scores
In the third part of the interview with Prof Qureshi, he covers polygenic risk scores, DTC testing, pharmacogenomics in the context of how management of genetic diseases is changing. Patients …
Case progression and management issues
In the video, Prof Qureshi gives further detail of management of FH patients. The patient’s concerns: Azeeb is concerned about the diagnosis and the implications for family members. He is …
Welcome to week 1
GP Dr Catherine Millington-Sanders asked her colleagues for examples of situations where genomics might be relevant to Primary Care. Dr Jude Hayward and Dr Imran Rafi suggest two common scenarios: …
Case finding
In this video, Prof Nadeem Qureshi from the University of Nottingham explains diagnosis and case finding in FH. Patients may be identified through proactive case-finding within Primary Care, 2017 NICE …
Welcome to week 3
Welcome to the third and final week of this course. We are going to discuss some of the latest genomic technologies and how they may influence primary care practice now …
In conversation: infectious disease
The second part of our Week 3 course delves a little into the increasingly important ways that genomics is used within the field of infectious disease. Many of these are …
Dr English interview continued
Watch the second part of the interview with Dr English where he talks about using genomics to develop vaccines for difficult diseases including Covid-19. He also recounts tracking an outbreak …
Cell Free Fetal DNA
Historically when there was a high risk of a child being born with a genetic disease, the options for prenatal testing were both invasive: chorionic villus sampling (CVS) and amniocentesis. …
Welcome to week 2
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 …
Types of DTC testing available online
Direct to consumer (DTC) kits are available to buy online. DTC online testing In general, these tests do not require any medical input or provide counselling to the purchaser as …
Clinical Genetics
Safina has been referred to breast clinic and she has been looking further into her family history. My aunt (mother’s sister) died of cancer in her 50s but was very …
Multifactorial inheritance
In order for us to understand the importance and purpose of taking a family history, we must understand the concept of multi-factorial inheritance. Many common chronic disorders follow this pattern …
Care of Those at Near-population Risk
Safina has one female relative affected over the age of 40 with unilateral breast cancer. In the absence of any other family history, and if she has no Jewish Ashkenazi …
Significance of Variants
Now that we are able to get the genetic sequence from a small cell sample such as a cheek swab, a blood sample or a piece of tumour tissue, we …