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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.  See this video on Genomics in healthcare

Eddie Morris, former 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.”

2.1 Genomics 101: From Genes to Genome

This part of the series Genomics 101 from genes to genome

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.

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. See

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.

More 101 Essential Genomics from Health Education England

A suite of other free courses and links from HEE:

The role of genetic counselling in genetic testing

2.4 How other specialties have introduced genomics

Below is 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 but in the meantime, take a look at former RCOG President, Eddie Morris blog about genomics in practice in O&G.

2.5 Genomics and Precision Health

This short video from the JAMA Network outlines the potential and risks of genomic medicine.

This JAMA Network site includes 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.

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.

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 in RCOG Scientific Impact Paper No.57.

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.

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.

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.

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. Watch this documentary.

2.12 Genomics in practice

The Genomics Education Programme GeNotes – genomics notes for clinicians website,  includes the In the Clinic resource. This provides example clinical scenarios for a range of presentations along with advice on when to consider genomic testing and what steps to take.

The resource includes a section on Fetal and Women’s Health and Ovarian Cancer in oncology.