Table Of ContentGENOMICS AND PERSONALIZED
MEDICINE
WHAT EVERYONE NEEDS TO KNOW®
GENOMICS AND
PERSONALIZED
MEDICINE
WHAT EVERYONE NEEDS TO KNOW®
MICHAEL SNYDER
1
3
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CONTENTS
ACKNOWLEDGMENTS XI
INTRODUCTION XIII
1 Personalized Medicine 1
What is personalized medicine? 1
What personal factors impact our health? 2
2 Genome Fundamentals 5
What is DNA? 5
What is a genome? 7
What does the genome do? 9
How does one person’s genome differ from another person’s genome? 9
How do genomes of men and women differ? 12
How is the genome decoded? 13
3 An Introduction to Cancer Genetics 21
What is cancer and how does it arise? 21
How do the BRCA1 and BRCA2 genes cause cancer? 24
vi CONTENTS
What are examples of other genes implicated in cancer? 25
How does genetic information help us treat cancer? 26
4 Genomics and Cancer Treatment 31
What has been learned from genome sequencing of cancer? 31
How can genome sequencing advance cancer treatment? 32
If I have cancer should I get my tumor genome sequenced? 37
Why do anticancer drugs fail and how might genomic approaches
help address this issue? 39
Can genetics and genomics help detect early cancer and monitor
treatment effectiveness? 41
A new approach: What is immunotherapy? 42
How can genomics be used to harness the patient’s own immune
system to fight cancer? 44
5 Solving Mystery Diseases 47
What is a mystery genetic disease? 47
How many Mendelian diseases are there? 49
How are genes responsible for genetic disorders identified? 50
How useful are genomic approaches to solving mystery
genetic diseases? 53
Why can’t most Mendelian diseases be solved? 55
6 Complex Genetic Diseases 59
What is a complex genetic disease? 59
How does complex genetics affect neurological diseases? 61
How does complex genetics affect metabolic diseases? 62
Can some diseases be both monogenic and complex? 64
Contents vii
7 Pharmacogenomics 67
How can your genome directly help guide drug treatments
for treating disease? 67
What are other ways your DNA can guide drug treatments? 67
Are there sex differences in drug effects? 69
8 Genomics for the Healthy Person 71
How can getting your genome sequenced improve your health? 71
Can genome sequencing affect the drugs someone takes? 76
Can genetic testing be used to predict sports performance
and injuries? 78
Will sequencing my genome affect my children and my relatives? 79
9 Prenatal Testing 81
How are genome sequencing technologies changing prenatal testing? 81
Can genome sequencing be used to identify other mutations,
beyond chromosomal abnormalities, that might cause disease? 83
Can genetic testing be useful for choosing healthier embryos
and producing designer babies? 84
10 Effects of the Environment on the Genome
and Epigenetics 87
How does the environment contribute to health? 87
When did people first begin to study environmental effects? 87
When do environmental effects begin? 88
Can environmental factors directly impact the genome? 89
What is epigenetics? 89
What are some examples of environmental effects on physiology
that are mediated through epigenetics? 91
viii CONTENTS
What is the role of epigenetics in disease? 92
How will increased understanding of epigenetics impact health care? 92
11 Other ‘Omes 95
What other ‘omes are useful for medicine? 95
How can the transcriptome and proteome be useful? 96
How can the metabolome be useful? 97
How deeply can a person be analyzed? 99
12 The Personal Microbiome 101
What is the microbiome? 101
How is the microbiome studied? 102
How does the microbiome affect health? 104
How does diet affect the microbiome? 106
Can the microbiome affect other aspects of our lives? 106
Can the microbiome be altered to improve human health? 107
13 Your Immune System and Infectious Diseases 109
How does your immune system protect you? 109
How does the immune system vary among people and affect
our health? 111
How can we analyze infectious diseases? 112
14 Aging and Health 115
Are there genetic factors underlying longevity? 115
Are there environmental factors that affect aging and longevity? 117
Does epigenetics control aging? 118
Will we someday be able to control our aging? 119
Contents ix
15 Wearable Health Devices 121
What other types of personal health information
can be readily collected? 121
How will this information be made available to, and used by,
the individual? 124
16 Big Data and Medicine 125
How much data can be gathered about a single person? 125
How much data can be gathered about a group of people? 126
How can a large database assist in medical care? 127
How can Big Data guide lifestyle decisions? 130
What are the opportunities for industry in Big Data Medicine? 130
17 Delivery of Genomic Information 133
Who controls your genomic and other health information? 133
Who will deliver genomic information to you? 134
What is the role of the physician? 135
What are the implications of direct- to- consumer genomic testing? 136
18 Ethics 139
Can your genetic information be used against you? 139
What are the concerns surrounding routine (or even mandated)
genetic screening? 140
What is a possible solution? 141
19 Education 143
Can we educate people to understand genomic information? 143
How do we educate physicians to understand genomic information? 144
