Episode 10- Genomics and BNF

July 2, 2018

eGPLearning Podblast Personal Genomics Special Shownotes

 

In this episode, Andy describes his experience of using the 23andme’s personal genetics service. We discuss his impressions, both positive and not so positive as well as privacy concerns and what the future might hold for personal genetics and how General Practice might be involved. We also explore the use of the BNF clinical app.

eGPlearning Podblast is a health tech talk by two Nottingham based GPs covering recent topics, useful clinical apps, and interviews with primary care health tech innovators.

Hosted by Dr Hussain Gandhi (@drGandalf52) and Dr Andrew Foster (@drawfoster).

 

Shout outs:

@sonaliKinra, @ncgpaNottm, @nottsLMC

 

Gandhi update (1.50)

Fasting in Ramadan is not easy

Podcasting for innovait - the @rcgp AiT journal - check out the latest episode shortly with @doctormayur and @dr_zo

Thank you to all the #eGPlearners for helping with rebranding of @egplearning

 

 

Andy update (3.00)

On @nottstv talking about GP plus extended GP services in Nottingham.

 

App review: BNF Smartphone App (4.00)

https://www.bnf.org/products/bnfbnfcapp/

HANDI (Handbook of Non-drug interventions) website (10.00)

A useful collection of non-drug resources for clinicians and patients. 

 

Down to our Personal Genomics (10.30)

 

  • Definition: “Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual

 

Who are 23andMe?

US based startup founded 2006.

Direct to consumer personal genome testing

CEO Anne Wojcicki used to be married to google’s Sergy Brin, google an early investor

Spit in a tube and they will analyse your genetic material, mitochondiral and chromosomal and present the results

They give you the opportunity to:

  • See an ancestory report
  • Find genetic relations (who want to be found)
  • See a report about inherited traits - baldness, unibrow….
  • Be aware of genetics risks for serious health problems

 

The process?

  • Order the kit - £79 Ancestory, £149 full service
  • Register account
  • Spit in a tube and post back
  • Wait 2-3 weeks
  • HumanOmniExpress-24 format chip - partial SNP (single nucleotide polymorphisms) looks at parts of the genome known to vary between individuals.
  • Get an email saying results are ready
  • Look at results.
  • Can see
    • See an ancestry report
    • Find genetic relations (who want to be found)
    • See a report about inherited traits - baldness, unibrow….
    • Carrier status
    • Be aware of genetics risks for serious health problems

 

Ancestry

  • Allows users to view origins of mitochondrial DNA and nuclear DNA and see where ancestors came from around the world
  • Interesting, but beware unintended consequences and unwanted/unexpected information. May have implications for identity and family

 

Inherited traits

  • Largely for fun… Unibrows, Widows peaks, freckles and ability to smell asparagus and many more traits.

 

Carrier status

  • Innocently named, but quite serious stuff - Cystic Fibrosis and thalassemia carrier status for example. Information released without genetic counseling. Beware unexpected or unwanted information.

 

Genetic disease

  • When doing similar tests in this country within the NHS, an individual would undergo genetic counseling with an expert to ensure that the process and implications of testing are understood.
  • 23andMe allow you to see this information after clicking through just 8 screens, Beware unwanted information and remember that your family will share your genes, so you are also testing other family members as well. If you have a variant then a relative may have it too.
  • Explains that genetics is just one potential risk factor, environment important too, not diagnosis… “Talk to your healthcare provider to better understand how to manage your risk”...
  • If risk present then provides information about the test, the condition, treatments, how to manage risks and links to good quality information.

 

Privacy

  • Prominent information on website
  • Stated aim is to give you choice and control
  • Keep genetic information and personal information separate - linked via a confidential cipher
  • Under certain circumstances they may release data to law enforcement organisations
  • They will not share with insurance companies - Concordat and Moratorium on Genetics and Insurance - in effect until 2019!

 

What next for personal genomics?

  • 100,000 genomes project - people with established diagnosis of genetic disorder are having genes sequenced in search for new approaches to managing these conditions
  • Personalised medication and treatment?
  • Pre relationship testing/matching?
  • Insurance implications post 2019 moratorium
  • Pre-employment testing - Great film recommendation - GATACA

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Correcting genetic mutations or treating more directly?

Would Andy recommend?

  • This was an interesting and in places fun process - There is a temptation to recommend it to those who fully understand the risk and are interested, particularly with regards to ancestry and traits.
  • BUT… Andy cannot recommended due to:
    • Risk of unexpected information
    • Lack of intervention for risks uncovered
    • Privacy concerns!!!

Please let us know what you think?

 

Listen, subscribe and follow and feedback

 

For a link to the certificate of engagement click to download from here.

 

Thanks for listening and catch you next time!

 

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