2014 05 21_personal_genomics_v_n2n_vfinal

Wim Van Criekinge
UGent
21 mei 2014

Lab for Bioinformatics and computational genomics
Overview
• Who ?
• ^[now][transl comput]ational[epi]genomic⎮
• > Genetics
• Technology: Next Gen
Sequencing
• Personal …. Medicine/Genomics
• Manifesto
• The App

Overview
• Who ?
• ^[now]
[transl comput]ational⎮ [epi]genomic$
> Genetics
Sequencing
• Manifesto
• The App

Overview
• Who ?
• > Genetics
Sequencing
• Manifesto
• The App

Actionable Epigenome
…. It is estimated that there are more microbes in your
intestine than there are human cells in your body!

Overview
• Who ? Where ?
• > Genetics
Sequencing
• Manifesto
• The App

107
106
105
104
103
102
101
1108
109
Full genome bp
G
E
N
E
T
I
C
Whole-genome
sequencing
Enrichment seq
(Exome)
PCR
Enrichment
Targeted Panels
Instrument and Assay providers
CLIA Lab service providers

The genome fits as an e-mail attachment

Generic Health advice
•Exercise (Hypertrophic Cardiomyopathy)
•Drink your milk (MCM6 Lactose intolarance)
•Eat your green beans (glucose-6-phosphate
dehydrogenase Deficiency)
•& your grains (HLA-DQ2 – Celiac disease)
•& your iron (HFE - Hemochromatosis)
•Get more rest (HLA-DR2 - Narcolepsy)

Generic Health advice (UNLESS)
•Drink your milk (MCM6 Lactose intolarance)

Generic Health advice (UNLESS)
•Drink your milk (MCM6 Lactose intolerance)

Molecular Profiling
The study of specific patterns (fingerprints) of proteins,
DNA, and/or mRNA and how these patterns correlate
with an individual's physical characteristics or
symptoms of disease.

Overview
• Who ? Where ?
• > Genetics
Sequencing
• … Personal Genomics
• Manifesto
• The App
^[now][transl comput]ational⎮ [epi]genomic$

The Technical Feasibility Argument
The Quality Argument
The Price Argument
The Logistics Argument

Recreational genomics

• Experimental designs are outdated by technological advances
• Genetic background (reference genome) as a concept will need to be
updated
• Traits dependent on multiple loci are “complicated”: educate and
provide tools to deal with it

• Eye color … why not the ear wax/asparagus or unibrown example
• … metabolize nutrients (newborns ?)
• … metabolize drugs in case you need it urgently ?

“several 23andMe users have reported taking the FDA’s
advice of reviewing their genetic results with their
physicians, only to find the doctors unprepared, unwilling,
or downright hostile to helping interpret the data”

my genome is too important (for me)
to leave it (only) to doctors

NXTGNT biohackerspace …

PGMv2: Personal Genomics Manifesto

Everyone should have the power and legitimacy to
be able to discover, develop and find new things
about their own genome data.
Intelligent exploration, experimentation and trial to
push the boundaries of knowledge are a basic
human right.

Personal genome data access should be
affordable to all irrespective of nationality, gender,
social background or any other circumstance.
Not having access to a personal genetic test is in
itself a new kind of discrimination.

Whether one wants to share genome data or keep it
private should be a matter of personal choice.
Whatever attitude a person has towards personal
genome privacy, it should be utterly respected.
Corporate interest can never compromise any human
right. Laws must fully protect individual human rights of
equality for every person, irrespective of predicted risks
from genetic data.

Stating that genetic tests merely provide non-
clinical information misses the point of what
personal genomics is all about.
Most genomic information is uninterpretable and
may well be meaningless. But those are not
reasons to deny it to people.
Genetic test results are not unrelated to
someone’s health, one’s ability to respond to
certain drugs and one’s ethnic ancestry.

Education in risks and opportunities for personal
genetic testing should be the primary aim of
policy makers.
Restricting access to interested people makes
no sense and it is virtually impossible to ensure.
Access to personal genomics data and tools for
its interpretation should become accessible to
everyone.

Overview
• Who ? Where ?
• > Genetics
Sequencing
• Manifesto
• The App
^[now][transl comput]ational⎮ [epi]genomic$

2014 05 21_personal_genomics_v_n2n_vfinal

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