Advances in genomics – the study of genes and their functions – are allowing researchers (and eventually physicians) to customize health care and treat individuals according to their genetic makeup. Dr. Francois Bernier, an expert in rare diseases, explains how genetic sequencing, a “precision medicine” approach, can give physicians more tools to understand what their patients need and to provide highly personalized, precise care. Watch the full webinar recording: http://www.ucalgary.ca/explore/cracking-genetic-code-better-health

1. Cracking the genetic code for better
health
Francois P. Bernier, MD
Department Head and Associate Professor, Department of Medical Genetics, Cumming
School of Medicine
Section Chief, Clinical Genetics, Alberta Health Services
April 4, 2017

2. Francois P. Bernier
 Head and Associate Professor,
Department of Medical
Genetics, Cumming School of
Medicine
 MD from the University of
Manitoba
 Expert in the use of genomics
for novel gene discovery and
the implementation of new
technologies in health care
 Published in leading journal of
his field and is local and
national expert in the use of
genomics in precision health

3. Cracking the genetic code for
better health
 Cracking the Human Genome
• How did the multi billion dollar Human Genome Project result
in the promise of a routine $100 genome test?
 Genes and our Health
• How do genetic changes impact our health, and how might
the knowledge of our personal genome improve our health?
 Precision Health, Genomics and Society
• What is Precision Health, and how will genomics impact not
only our health, but also the health of our families and
communities?

4. What do you think?
http://www.theglobeandmail.com/news/national/time-to-lead/the-dna-
dilemma-why-science-wants-your-genome/article5921666/?from=6121976
A B

5. Globe and Mail Reader’s opinion

6. Develop, Grow, Renew, Renew,
Renew…

9. Cumming School of Medicine Centre
for Health Genomics and Informatics
Massively parallel Next Generation Sequencers

10. Nanopore sequencers
https://nanoporetech.com

11. Human genome sequencing

13. Single Gene
Many Genes Non-Genetic
Multifactorial
Genetics 101

14. Single Gene
Many Genes Non-Genetic
Multifactorial
Genetics 101
10%
Rare Genetics Diseases
Cystic Fibrosis
Sickle Cell
Breast Cancer
Etc
50%
Complex Genetics Diseases
High blood pressure
Depression
Autism
Cancer

15. Rare diseases
 Individually affect < 1/2000 people
 Collectively willaffect1/12-1/17Canadians
 80% are genetic, ~7000 in total
 50% of people affected are children
 Takes > 5-years to diagnose
 30% of children with an RD die under 5
 Genetic cause known for just over half
 Treatment available for <10%

16. 0
0.5
1
1.5
2
2.5
3
3.5
30 40 50 60 70 80 90 100 110
Neutrophils
x10^9/L
Days
Patient Neutrophils
Lower Limit of Normal Neutrophils
Patient with low white blood
cells and infections

17. His genetic code
2000 letters out of 3 billion!
TTTCCCAGGGAAAGCTTCAATCAGCAAACAGTCTGCATGGGTCATCCCCTTCACTCCCAGCTGAGCAAACTCCAAGACAT
CTTCTACCCCAACACCAGCAATTGTGCCAAGGGCTATTAGGCTCTCAGCATGACTATTTTTAGAGACCCCGTGTCTGTCACT
GAAACCTTTTTTGTGGGAGACTATTCCTCCCATCTGCAACAGCTGCCCCTGCTGACTGCCCTTCTCTCCTCCCTCTCATCCC
AGAGAAACAGGTCAGCTGGGAGCTCTGCCCCCACTGGAAGGGACCAACAGGGGCCCAGTCACTGACCCCGAGACGTT
TGCATCCTGCACAGCTAGAGATCCTTTATTAAAAGCACACTGTTGGTTTCTGCTCAGTTCTTTATTGATTGGTGTGCCGTTT
TCTCTGGAAGCCTCTTAAGAACACAGTGCGCAGGTGGGTGGAGCCGTCCCCCCAGGAGCACAGGCAGACAGAACGCTC
CTTGAAGCTGGTCTCCACACAGTGCTGGTTCCGTCACCCCCTCCCAAGGAAGTAGGTCTGAGCAGCTTGTCCTGGCTGTG
TCCATGTCAGAGCAACGGCCCAAGTCTGGGTCTGGGGTCTGCCTGTGGCTGCTGCGGTGGCGGATGGGACGCGGGCAA
AGGCTCCTCACCAGCCCCAGGTCCTTTCCCAGAGATGCCTGGAGGGAAAAGGCTGAGTGGGTGCTTAAATACAGAAAA
GGCAGGACAGAATTACAAGGTGCTGGCCCAGGGCGGGCAGCGGCCCTGCCTCCTACCCTTGCGCCTCATGACCAGCTTG
TTGAAGAGATCCGACATCAAGTGCCCACCTTGGCTCGTGGCTCTCACTGCAACGGGAAAGCCACAGACTGGGGTGAAG
AGTTCAGTCACATGCGACCGGTGGCTCCCTGTCCCCACCCCCATGACACTCCCCAGCCCTCCAAGGCCACTGTGTTTCCCA
GTTAGCTCAGAGCCTCAGTCGATCCCTGACCCAGCACCGGGCACTGATGAGACAGCGGCTGTTTGAGGAGCCACCTC
AGCCACCTCGGGGCCAGGGCCAGGGTGTGCAGCACCACTGTACGGCGGGGGGAGAGCAAGGCAAAAGCAGCGCTGG
GTACAAGCTCAAAACCATAGTGCCCAGGGCACTGCCGCTGCAGGCGCAGGCATCGCATCACACCATCTGTATCTCAGGAG
GCTGCAGTGGCTGACCACCGCCTTGGACCGCTCTTGGCAGTCGAAAAAGATTCTCCTGTCAGTTTGAGCTGGGTGAGGG
GAGGATTGGTGGCGGCCCAGGGCTTCCAGCATGTGCCCTAGGGGAAGCAGGGGCCAGCTGGCAACACCCGGTGGCCA
GGGTGGAGGGGAGTTTTCGCTCCTGCGCTTGGCCTTGCCGATGCCCCCAGGAGGCCGGACCTTTAGAGACTGTGTGTG
GGGGCCGGCACTGGTTTCTGCAACCACCTGAGCGCGGGCATCCTGTGTGCAGATACTCCCTGCTTCCTCTCTAGCCCCCA
CCCTGCAGAGCTGGACCCCTGAGCTAGCCATGCTCTGACAGTCTCAGTTGCACACACGAGCCAGCAGAGGGGTTTTGTG
CCACTTCTGGATGCTAGGGTTACACTGGGAGACACAGCAGTGAAGCTGAAATGAAAAATGTGTTGCTGTAGTTTGTTATT
AGACCCCTTCTTTCCATTGGTTTAATTAGGAATGGGGAACCCAGAGCCTCACTTGTTCAGGCTCCCTCTGCCCTAGAAGTG
AGAAGTCCAGAGCTCTACAGTTTGAAAACCACTATTTTATGAACCAAGTAGAACAAGATATTTGAAATGGAAACTATTCAA
AAAATTGAGAATTTCTGACCACTTAACAAACCCACAGAAAATCCACCCGAGTGCACTGAGCACGCCAGAAATCAGGTGG

18. Found the mistake!
AGCCACCTCGGGGCCAGGGCCAGGGTGTGCAGCACCACTGTACGGCGGGGGGAGAGCAAGGCAAAAGCAGCGCTGGGTACAAGCTCAAAACCATAGTGCCCAGGGCACTGCCGCTGCAGGCGCAGGCATCGCATCACACCATCTGTATCTCAGGAGGCTGCAGTGGCTGACCACCGCCTTGGACCGCTCTTGG
GAGGATTGGTGGCGGCCCAGGGCTTCCAGCATGTGCCCTAGGGGAAGCAGGGGCCAGCTGGCAACACCCGGTGGCCAGGGTGGAGGGGAGTTTTCGCTCCTGCGCTTGGCCTTGCCGATGCCCCCAGGAGGCCGGACCTTTAGAGACTGTGTGTGgtgtgactatgtcatacstgcgs
ttsGGGGCCGGCACTGGTTTCTGCAACCACCTGAGCGCGGGCATCCTGTGTGCAGATACTCCCTGCTTCCTCTCTAGCCCCCACCCTGCAGAGCTGGACCCCTGAGCTAGCCATGCTCTGACAGTCTCAGTTGCACACACGAGCCAGCAGAGGGGTTTT
GTCCACTTCTGGATGCTAGGGTTACACTGGGAGACACAGCAGTGAAGCTGAAATGAAAAATGTGTTGCTGTAGTTTGTTATTAGACCCCTTCTTTCCATTGGTTTAATTAGGAATGGGGAACCCAGAGCCTCACTTGTTCAGGC
TAGAAGTCCAGAGCTCTACAGTTTGAAAACCACTATTTTATGAACCAAGTAGAACAAGATATTTGAAATGGAAACTATTCAAAGCCACCTCGGGGCCAGGGCCAGGGTGTGCAGCACCACTGTACGGCGG
GGGTACAAGCTCAAAACCATAGTGCCCAGGGCACTGCCGCTGCAGGCGCAGGCATCGCATCACACCATCTGTATCTCAGGAGGCTGCAGTGGCTGACCACCGCCTTGGACCGCTCTTGGC
AGTCGAGGATTGGTGGCGGCCCAGGGCTTCCAGCATGTGCCCTAGGGGAAGCAGGGGCCAGCTGGCAACACCCGGTGGCCAGGGTGGAGGGGAGTTTTCGCTCCTGCGC
TTGGCGGGGCCGGCACTGGTTTCTGCAACCACCTGAGCGCGGGCATCCTGTGTGCAGATACTCCCTGCTTCCTCTCTAGCCCCCACCCTGCAGAGCTGGACCCCT
GAGCTAGCCACTTCTGGATGCTAGGGTTACACTGGGAGACACAGCAGTGAAGCTGAAATGAAAAATGTGTTGCTGTAGTTTGTTATTAGACCCCTTCTTT
CCATTGGTAGAAGTCCAGAGCTCTACAGTTTGAAAACCACTATTTTATGAACCAAGTAGAACAAGATATTTGAAATGGAAACTATTCAAAAAATTG
AGAATTTCCTCAAAGAGCTGCTCCCACCTGAAGGAGACGCGCTGCTGCTGCTGTCGTCCTGCCTGGCTCTGAAACACAAAGTGTGGGG
TGTCTAGCCAGCTCCAATCCCAGAACCCAGCACCTTGGCTACCCTCAAAGAGCTGCTCCCACCTGAAGGAGACGCGCTGCTGCT
GCTGTCGTCCTGCCTGGCTCTGAAACACAAAGTGTGGGGTGTCTAGGGAAGAAGGTGTGTGACCAGGGAGGTCCCCGG
CCCAGCTCCAATCCCAGAACCCAGCACCTTGGCTACCCTCAAAGAGCTGCTCCCACCTGAAGGAGACGCGCTGCTG
CTGCTGCTGCCTGGCTCTGAAACACAAAGTGTGGGGTGTCTAGGGAAGAAGGTGTGTGACCAGGGAGGTCC
CCGGCCCAGCTCCAATCCCAGAACCCAGCACCTTGGCTACCCTCAAAGAGCTGCTCCCACCTGAAGGAGACG
CGCTGCTGCTGCTGTCGTCCTGCCTGGCTCTGAAACACAAAGTGTGGGGTGTCTAGGGAAGAAGGT
GTGTGACCAGGGAGGTCCCCGGCCCAGCTCCAATCCCAGAACCCAGCACCTTGGCTA
CCCTCAAAGAGCTGCTCCCACCTGAAGGAGACGCGCTGCTGCTGCTGTC
GTCTCTTGCATCTGTTCTCTTCCAGGTTTCTTTTTGGAGA
CAGGCCCTTTTGATGGGTCCATGAGTCTGGTTACTACAG
CCAGGCTCCAGCCCAG

19. Madden – 2 years of age and in
hospital…. with no diagnosis

20. IPEX syndrome – Madden has a hyperactive
immune system and needs a bone marrow
transplant to survive
Eisenbarth GS, Gottlieb PA. N Engl J Med 2004;350:2068-2079.
4800 genes sequenced…
in one week

21. Post bone marrow transplant
and healing

22. Family history of breast cancer

23. Tumors are all genetically
abnormal
Normal
Tumor

24. Some people have a genetic change
that predisposes them to cancer
Normal
Tumor

25. Sporadic
Family clusters
Hereditary
Ovarian CancerBreast Cancer
5%–10% 5%–10%
15%-20%
How much breast and ovarian cancer is
hereditary?

26. Taking control of your genetic
risk

27. Why don’t elephants get cancer?
Ndutu Tanzania
Peto’s
paradox

28. Peto’s Paradox
li-fraumeni syndrome

29. Peto’s Paradox solved
extra copies of p53
li-fraumeni syndrome

30. Epigenomics – gene and
environment interaction

31. Personalized medicine

32. Pharmacogenomics

33. Medicine 2017

34. Precision health – we are all
unique

35. Disruptive technologies:
advances that will transform
life business and the global
economy
Genomics is a disruptive
technology

37. Gene editing

38. Would you have your genome
sequenced?
YES
NO

39. Would you have your genome
sequenced
A
YES
B
NO

42. Key takeaways
 The 3 billion letters of our genome contains all the
instructions necessary for development and maintenance of
the human body
 Genetic variation has a large impact on both our risk of
disease, as well as our response to treatment
 Rapid advances in sequencing and computer technologies
have brought sequencing the human genome to the
doorstep of clinic
 Human Genomics will be one of the cornerstones of the
new Precision Medicine era
• The Cumming School of Medicine at UCalgary has identified
Precision Medicine as its key strategic priority

43. Resources
 NHGRI Genomic Medicine and Health Care
 NHGRI A Brief Guide to Genomics
 Alberta Children’s Hospital Research Institute
 Department of Medical Genetics, Cumming School
of Medicine, University of Calgary

44. Thank you
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