1. Dealing with your personal genome
Prof. Dr. Koen Kas
TEDxFlanders
Antwerp
October 20, 2012

2. 1 thing in common
with 7B people

3. Human genome
project:
1989 - 2001/2003

4. DNA (genome or
genetic code):
3.000.000.000
99,9 % identical 2% differences
x10 characters 3x longer genome

5. The building blocks of life
1% exome = 21.000
building block genes
14.000 meaning
3.500 disease

6. ENCODE :
1% real parts – 79% - 99% instructions

7. Soon, essentially for free
X 1.000

9. Personal genome analysers

10. Opportunities vs Challenges

11. Cancer:
Collection of rare diseases of the genome

12. Cancer drugs get personal
Treatment ‘V600E BRAF’

13. Fetal sequencing
from 1 drop mom’s
blood
No more invasive testing
IDs 3.500 disease/all

15. But can we handle our
personal genome ?

16. Incidental findings
to report

17. How many ‘personal genomes’ around?
250.000+ 106K = 0,03%
25.000+ Whole exome = 1%
2.500+ Whole genome
cf 1.000.000.000 accounts

18. Time for some introspection
‘Typical odds’ not Could loose eyesight –
being bald but when?
Detailed numbers of SNPs Nr
Number of SNPs in exome 22247
Number of missense mutations 10617
Number synonymous mutations 11121
Gain of stop codon mutations 83
Loss of stop codon mutations 15

19. So what does our code
really tells us today ?
And can we act upon it ?

20. Life build/executed
from 6 layers code (-omes)
• Genome
• Epigenome -
methylome
• Transcriptome
• Proteome
• Metabolome
• Microbiome

21. Our genome interacts
with the world around us

22. Need to combine -omes data

23. Need to combine -omes (and other) data
• Personal Omics Profile
(iPOP) - n=1, 1.5Y, 300 Tb
• Quantified self movement
• Tricorder-like devs &
wearable sensors

24. Finding novel features mining shared genomes

25. Growing patient awareness - Participation

26. New findings start to pour in...
Gene defends against Thrill seeking
Alzheimer’s disease ‘cheating gene’

27. The promise of exploring your genome
Join panel based on taste coriander
Request the right drugs subscribed

28. Incentives from exploiting your genome
Online genome games Sign up for clinical trial
based on your genome

29. 14 years ago
“nonsense” to build search engine
“There is not enough to search for”

30. To help dealing with your genome
Lifeskout
Summer 2013

31. Personalised Predictive
Participatory Preventive