2014 05 21_personal_genomics_v_n2n_vfinal

Wim Van Criekinge

UGent21 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 • Technology: Next Gen Sequencing• Personal …. Medicine/Genomics• Manifesto• The App


Overview

• Who ? • > Genetics • Technology: Next Gen Sequencing• Personal …. Medicine/Genomics• 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 • Technology: Next Gen Sequencing• Personal …. Medicine/Genomics• Manifesto• The App


107 106 105 104 103 102 101 1108109

Full genome bp

GENETIC

Whole-genomesequencing

Enrichment seq(Exome)

PCREnrichment

Targeted Panels

Instrument and Assay providers

CLIA Lab service providers

The genome fits as an e-mail attachment


Overview


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 • Technology: Next Gen 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• Experimental designs are outdated by technological advances• Genetic background (reference genome) as a concept will need to be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 topush 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


^[now][transl comput]ational⎮ [epi]genomic$

Genomeslikemine

2014 05 21_personal_genomics_v_n2n_vfinal

Education

Transcript of 2014 05 21_personal_genomics_v_n2n_vfinal