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Part 2: Essential Basic Genomics in Healthcare

A selection of short courses and instructional videos for healthcare professionals who have had limited exposure to genomics in their clinical roles.

These resources have been reviewed by a panel of consultants and trainees. Quotes have been provided by this panel.

Genomics 101 is a suite of basic short courses from the HEE Genomics Education Programme, most around 30mins. Access is free for NHS staff and Academics.

2.0 Genomics 101: Genomics in Healthcare

 

This short course deals with the fundamental principles of genomics including what DNA is and how the genome is investigated. The course is also suitable for those looking to refresh their knowledge or to support training.

Eddie Morris, President RCOG:
“I decided that it would be appropriate for me and my fellow senior officers of the RCOG to lead by example and take some of the excellent courses being offered by the HEE programme. I took the course Genomics 101: Genomics in Healthcare to get the ball rolling and found that this course reinforced some areas I knew about already, but also further inspired me to go out and find more information about different areas, such as pharmacogenomics.”

https://www.genomicseducation.hee­.­nhs.uk/education/online-courses/genomics-101-genomics-in-healthcare/

2.1 Genomics 101: From Genes to Genome

 

This part of the series covers core concepts around genomics in healthcare including the structure of DNA, the purpose of genes, and the influence of the genome on our health.

 

https://www.genomicseducation.hee­­.­­nhs.uk/education/online-courses/genomics-101-from-genes-to-genome/

2.2 Genomics 101: Inheriting Genomic Information

 

This part of the series covers topics such as the impact of errors in the genome, how to record a genetic family history, how genomic information is passed from parent to child, and from cell to cell.

 

https://www.genomicseducation.hee­­.­nhs.uk/education/online-courses/genomics-101-inheriting-genomic-information/

2.3 Genomics 101: Taking and Drawing a Genetic Family History

 

This part of the course will demonstrate why genetic family history is such a valuable tool to help identify an inherited condition, and how to take and draw a family history.

 

https://www.genomicseducation.hee­­.­nhs.uk/education/online-courses/genomics-101-taking-and-drawing-a-family-history/

More 101 Essential Genomics from Health Education England

A suite of other free courses and links from HEE:

https://www.genomicseducation.hee­­.­nhs.uk/product-tag/genomics-101/

The role of genetic counselling in genetic testing

https://www.theguardian.com/commentisfree/2021/jul/13/genetic-counselling-parents-changes-prenatal-testing

2.4 How other specialties have introduced genomics

A variety of links from HEE about how other specialties are introducing their professionals to the importance of genomics in their practice. We will soon have a presence here; in the meantime have a look at the President of HEE Blog about Genomics in practice in O&G.

 

https://www.genomicseducation.hee­­.­nhs.uk/genomics-in-healthcare/#specialism

2.5 Genomics and Precision Health

This site, developed in 2017, includes a short video about the potential and risks of genomic medicine, and a series of article links over a range of topics important in the practice of medicine. It is followed by a useful glossary of genomic terms. Most universities and NHS have access to JAMA.

 

https://sites.jamanetwork.com/­
genetics/

2.6 A window to our health

Dennis Lo, DM, DPhil, FRCP, FRCPath, FRCOG, FRS is a professor of chemical pathology at the Chinese University of Hong Kong and was the inventor of a non-invasive technique for prenatal testing (NIPT). In this dynamic 2016 TEDx Talk, he explains the detection of cell-free DNA and its implications for genomic testing.

https://youtu.be/r3afSFSG570 

2.7 Introduction to Epigenetics

This wonderful TED-Ed video explains a difficult but important genomic concept in an entertaining and lucid way. Developed by senior lecturer Carlos Guerrero (Department of Physics Chemistry and Biology, Linköping University, Sweden), animated by Chris Bishop, and narrated by Addison Anderson. You can also gain more information by viewing the RCOG Scientific Impact Paper No.57.

https://youtu.be/_aAhcNjmvhc 

2.8 Mitochondrial diseases and mitochondrial donation

 

Mitochondrial diseases are a group of disorders caused by genetic mutations. These can now be avoided by preimplantation genetic diagnosis and the new technology of mitochondrial donation (mitochondrial replacement therapy  MRT), which is legal in the UK and approved by the HFEA. This Nature animation shows how these diseases may arise, and how new techniques can stop them being passed on from mother to child.

 

https://youtu.be/66Tjk8wtJYY 

2.9 Preimplantation diagnosis and prenatal testing for cancer susceptibility genes

 

Genomics and targeted genomic sequencing, theoretically and in practice will allow the detection of cancer susceptibility genes in an embryo or fetus of families at risk of these conditions.

This technology raises important questions about the complexity of pre-test counselling of parents and the interpretation of results once available.

It also raises ethical considerations that are discussed in the short opinion piece published in BJOG.

https://obgyn.onlinelibrary.wiley.com/doi/10.1111/1471-0528.16785

2.10 Genetic Conditions: Factsheets

These factsheets outline the key facts of each genetic condition, plus clinical features, diagnosis, management and treatment. Although aimed at primary care health professionals, they provide a go-to list for a quick review of important genetic conditions. A useful resource when deciding about conditions for which there is a genomic test available in the NHS test directory.

 

https://www.genomicseducation.hee.­nhs.uk/doc-type/genetic-conditions/

2.11 Human Nature documentary

Human Nature is a single episode documentary which presents an in-depth but accessible description about the gene-editing tool CRISPR, and its possible implications which features a number of credible and well known researchers and clinicians in the field. A good starter for both professionals and public.

Available on Netflix: https://www.netflix.com/gb/title/81220944

Review from the prestigious journal Nature: https://www.nature.com/articles/d41586-019-03479-3