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3.1 New general genomic technology relevant to O&G

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

 

Genomics in Practice: Obstetrics and Gynaecology

RCOG President Eddie Morris explains the important role played by genomics in the practice of obstetrics and gynaecology, and its impact on patient care.

https://www.genomicseducation.hee.­nhs.uk/blog/genomics-in-practice-obstetrics-and-gynaecology/

HEE Blog

https://www.genomicseducation.hee.­nhs.uk/blog/

“A huge amount of information – topics worth browsing.”

 

3.1.1 A basic introduction to CRISPR and Genome editing

Video 4min animation

An excellent introduction to the CRISPR-Cas9 method for genome editing. This powerful technology has many applications in biomedical research and is now being considered for use in human genome editing.

“A simple concise basic introduction.”

https://www.youtube.com/watch?v=2pp17E4E-O8

 

3.1.2 Beyond CRISPR

Video 4min animation

A more detailed look at the workings of the CRISPR editing tool and the increasing possibilities for this remarkable discovery, for which the 2020 Nobel Prize in Chemistry was awarded to 2 women, Jennifer Doudna and Emmanuelle Charpentier. 

https://www.youtube.com/watch?v=4YKFw2KZA5o

 

3.1.3 Base editing: Can we cure genetic disease by rewriting DNA?

Video 16min TED Talk

Chemical biologist David R. Liu, whose lab developed this breakthrough technology, provides an inspiring introduction to base editing. This takes the promise of CRISPR to the next level where individual bases can be altered bringing the promise of preventing or curing diseases caused by single gene mutations.

“Inspirational”
“Good format and highly engaging.”
“A good summary of the challenges of single base pair editing.”

https://www.ted.com/talks/david_r_liu­_can_we_cure_genetic_diseases_by­_rewriting_dna

 

3.1.4 Next Generation Sequencing (NGS)

Video 31min presentation

A detailed look at DNA sequencing explaining how modern DNA analysis is carried out. It covers Sanger sequencing, sequencing by synthesis (Illumina), nanopore sequencing (Oxford Nanopore), long read sequencing (Pacific Biosciences). This provides essential understanding for those in fetal medicine and preimplantation genetic testing, and cancer diagnosis and treatment.

https://www.youtube.com/watch?v=mI0Fo9kaWqo

 

3.1.5 Direct-to-consumer genetic testing

Article – BMJ

Audio clip 36min

Direct-to-consumer genetic tests are being sold and used by an increasing number of individuals, whether for curiosity, or perceived medical need. The results provided often present a conundrum if they present with their results for your interpretation. This article (Horton et al 2019) provides an appropriate and useful look at the problem and how to deal with it.

“Useful practical information about what to say to patients who turn up with their results.”

https://www.bmj.com/content/367/­bmj.l5688

 

Get in touch

Thank you for visiting our Genomics hub. If you have any questions about genomics at the RCOG or feedback about this hub, please email fpradhan@rcog.org.uk.