Should you sequence your genome?

AGCTAGCATACGACATCGACGACGGACTATCGGCGGACATCGAGCGGCATCGAGCGATCGACTAACG
ATCGACTAGCATCAGACGATCGAACTGACGACTAGCATCTGAGCGATCGATCGATGCATGCTACGAT
CGATCGATCGATGCTAGCTAGCTAGCATCGATGCTAGCTAGCTAGCTAGCTAGCTGATCGATCGATG
CTAGCTAGCTAGCAAGCTAGCATACGACATCGACGACGGACTATCGGCGGACATCGAGCGGCATCGA
GCGATCGACTAACGATCGACTAGCATCAGACGATCGAACTGACGACTAGCATCTGAGCGATCGATCG
ATGCATGCTACGATCGATCGATCGATGCTAGCTAGCTAGCATCGATGCTAGCTAGCTAGCTAGCTAG
CTGATCGATCGATGCTAGCTAGCTAGCAAGCTAGCATACGACATCGACGACGGACTATCGGCGGACA
TCGAGCGGCATCGAGCGATCGACTAACGATCGACTAGCATCAGACGATCGAACTGACGACTAGCATC
TGAGCGATCGATCGATGCATGCTACGATCGATCGATCGATGCTAGCTAGCTAGCATCGATGCTAGCT
AGCTAGCTAGCTAGCTGATCGATCGATGCTAGCTAGCTAGCAAGCTAGCATACGACATCGACGACGG
ACTATCGGCGGACATCGAGCGGCATCGAGCGATCGACTAACGATCGACTAGCATCAGACGATCGAAC
TGACGACTAGCATCTGAGCGATCGATCGATGCATGCTACGATCGATCGATCGATGCTAGCTAGCTAG
CATCGATGCTAGCTAGCTAGCTAGCTAGCTGATCGATCGATGCTAGCTAGCTAGCAAGCTAGCATAC
GACATCGACGACGGACTATCGGCGGACATCGAGCGGCATCGAGCGATCGACTAACGATCGACTAGCA
TCAGACGATCGAACTGACGACTAGCATCTGAGCGATCGATCGATGCATGCTACGATCGATCGATCGA
TGCTAGCTAGCTAGCATCGATGCTAGCTAGCTAGCTAGCTAGCTGATCGATCGATGCTAGCTAGCTA
GCAAGCTAGCATACGACATCGACGACGGACTATCGGCGGACATCGAGCGGCATCGAGCGATCGACTA
ACGATCGACTAGCATCAGACGATCGAACTGACGACTAGCATCTGAGCGATCGATCGATGCATGCTAC
GATCGATCGATCGATGCTAGCTAGCTAGCATCGATGCTAGCTAGCTAGCTAGCTAGCTGATCGATCG
ATGCTAGCTAGCTAGCAAGCTAGCATACGACATCGACGACGGACTATCGGCGGACATCGAGCGGCAT
CGAGCGATCGACTAACGATCGACTAGCATCAGACGATCGAACTGACGACTAGCATCTGAGCGATCGA
TCGATGCATGCTACGATCGATCGATCGATGCTAGCTAGCTAGCATCGATGCTAGCTAGCTAGCTAGC
TAGCTGATCGATCGATGCTAGCTAGCTAGCAAGCTAGCATACGACATCGACGACGGACTATCGGCGG
ACATCGAGCGGCATCGAGCGATCGACTAACGATCGACTAGCATCAGACGATCGAACTGACGACTAGC
ATCTGAGCGATCGATCGATGCTAGCTAGCTAGCAAGCTAGCATACGACATCGACGACGGACTATCGG
DrDaveLunt
@davelunt
Shouldyousequence
yourgenome?
Why?
How?
Cost?
Privacy?
davelunt.net

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nucleus
chromosomes
Whatisagenome?
AgenomeisalltheDNAinacell

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nucleus
chromosomes
Chromosomes, biggest to smallest

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your genome?
should you sequence
Its now quite cheap and easy

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December 2012
the Prime Minister announced that the Government intended to achieve
a paradigm shift in the way that genomics is used across the NHS
100,000 Genome Project will position the NHS as world leaders in
realising a new era of personalised medicine
100,000
genomes by
end 2017
Rare diseases Cancer

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Do you
have a
rare
disease?

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Jessica’s story
SLC2A1 gene Glut1 deficiency
Sugar transport to brain Ketogenic diet

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Compare the genome of your cancerous
cells to genome of your normal cells
What has changed to cause
cancer?
Sequencing your cancer
From genome to treatment decisions

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“If I’ve learned anything, I’ve learned that
‘knowledge is power’ – the more
knowledge available to the oncologists the
better the patient’s chance of recovery.”
Andrew Anderson, cancer patient
“cheaper for the NHS”

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my
genome,
my data,
my health
23andme.com
What does my
genome
sequence say
about me?

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My ancestry

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My trait data

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My health data

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My Alzheimer’s risk is lower

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“find people 4 or 5 decades before they
show the first symptoms, lowering their
cholesterol, making sure they live an
active physical and mental lifestyle …if
you do that, you've decreased the
incidence by 50% and you’ve
prevented 10 million people from
getting Alzheimer’s disease.”
Dietrich Stephan

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We are all different in looks, body,
behaviour
and biochemistry!
OR6A2 gene, scent/taste receptor
Coriander tastes of soap for some people

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We are all different in looks, body,
behaviour
and biochemistry!
People differ in the dose
of medicines they require
pharmacogenomics

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This anticoagulant would be inefficient for me
“Physicians spend months and hundreds of thousands of dollars trying to find
the right statin, the right blood thinner, or the right antidepressant for their
patients, to say nothing of the right dose”
Precision medicine

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Question: what are the pros &
cons of nationwide medical
genomics?
Why? How?
Cost?
Privacy?
Which patients?
Insurance?
Family?

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HIVtests
Invitrofertilisation
Hearttransplants
Bloodtransfusions
Smallpoxvaccines

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Should patients drive this faster?
Genomics will be integral
to NHS care soon
Any cause for concern?
When should GP have genomes for all?

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Should you sequence your genome?

Should you sequence your genome?

Dave Lunt

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