Direct to Consumer testing in Primary Care
For the first part of this week, we are going to focus on direct-to-consumer (DTC) genetic testing. We will cover what is provided, pros and cons and how we can …
Course: Genomic Scenarios in Primary Care
Virulence
Nowadays new illnesses can be rapidly assessed and their genetic causes identified – when the new zoonotic virus named severe acute respiratory syndrome coronavirus 2, SARS-CoV-2 or COVID-19 emerged in …
Acknowledgements
Many thanks to all those who were involved in making of the course Genomic Scenarios in Primary Care Course Lead Educators and Lead Developers Dr Judith Hayward GPwSI in Genetics, …
What next?
What you can do next Free Digital Certificate of Achievement This is a Sponsored course, which means that learners can obtain a free Certificate once they become eligible. To be …
Managing Hypercholesterolemia With Statins and the Role of Pharmacogenomics
Familiar Hypercholesterolemia is associated with impaired Low-density lipoprotein cholesterol (LDL-C) clearance and increased ApolipoproteinB production in the liver and secretion into the circulation both leading to atherosclerosis. Three main mutations …
Familial Hypercholesterolaemia
Familial Hypercholesterolaemia (F.H) is a good example of a genetic condition that helps us understand basic genetic concepts. To help us, National Institute for Health and Care Excellence guidelines exist …
The Future of Genomics
So what’s new? What’s on the horizon for genomics, what can we expect to see within Primary Care in the future? So far this week we’ve talked about familial cancer. …
Rare Disease Diagnosis Resources
Although no clinician can know 8000 rare diseases, they can recognise unusual patterns and explore when they see these. Indeed, GPs are uniquely placed to help, offering whole patient care. …
Reading a DTC Report
There are a few key points to check when looking at any genetic test result. Check all patient identifying information carefully Family history is important contextual information Check the sample …
The pitfalls of DTC testing
Let’s dive straight in. Disease inheritance is occasionally a simple matter of carrying the variant that causes the disease. But, contrary to popular belief, in many other cases, it is …
Germline or somatic testing
So far we have discussed gene variants which are germ-line. Germ-line variants are present in every cell in the body, including sperm and ova, meaning they have the potential to …