Genomic Messages: How the Evolving Science of Genetics Affects Our Health, Families, and Future

258 Pages·2015·2.54 MB·English

by  George Annas

Dedication
To our grandchildren
Contents
Dedication
Introduction
1. The Coming Flood of Genomic Messages
What is genomic information?
What is genomic privacy?
What is genomic medicine and why might it change how we think?
Can we strike a “genetic balance” in our health care?
2. Personalized (Genomic) Medicine
What is a genetic family history and why does it matter?
How can personalized medicine become impersonal medicine?
How did genetically isolated populations help DNA researchers?
Why will genomic medicine require electronic health records?
3. Nature, Nurture, and the Microbiome
How do twins help us understand that it’s nature and nurture?
How do genomics and the environment affect the fetus?
How do genomics and the environment work in diabetes?
How does your microbiome affect your health?
4. Pharmacogenomics
How have racism and stereotyping plagued genomics?
What does warfarin tell us about pharmacogenomics?
How do foods and genes interact?
Why is it unlikely that your physician will use your genome to prescribe
drugs?
What will pharmacogenomics look like in the future?
5. Reprogenomics
Why is reprogenomics based on genetic relationships?
What are the social policy issues in reprogenomics?
What new issues do embryo and stem cell research create?
Is regulation of the fertility industry necessary?
6. Genomic Messages from Fetuses
How does prenatal diagnosis work?
What are karyotypes and microarrays?
Is whole-genome sequencing of fetuses in our future?
7. Genomic Messages from Newborns and Children
When is whole-genome sequencing of sick children indicated?
What is newborn screening and how does it work?
Why shouldn’t all newborns have their DNA sequenced?
8. Cancer Genomics
Is cancer a genetic disease?
How can the “hallmarks of cancer” suggest novel treatments?
Why does cancer sequencing hold promise for personalized medicine?
9. Genomic Privacy and DNA Data Banks
How do “big data” and “big DNA banks” affect our privacy?
How do criminal DNA data banks work?
How do commercial DNA data banks work?
How can we make informed consent to DNA data banking meaningful?
Can companies patent our DNA?
10. Genomics Future
How does genomics affect how we see death and our future?
What are “species-endangering” experiments?
What are “posthumans” and “transhumans”?
How can we tell the difference between genomics fact and fantasy?
How can individuals influence the genomics research agenda?
Acknowledgments
Appendix A: DNA and the Human Genome
Appendix B: Limitations of Screening Tests
Notes
Glossary
Index
Copyright
About the Publisher
Introduction
G
enomics has captured the attention of presidents and physicians, of science
enthusiasts and health-conscious Americans. Genomic Messages is about what
your genome, as read and interpreted by a skilled geneticist, can tell you about
your health and your family’s health, today and in the near future. Genomics will
change how we think about ourselves and our fellow humans, and is powerful
enough that it could transform American medicine in the coming decades.
Because of its transformational potential, it is critical that the evolving science of
genomics is introduced into medical care in a way that makes the health system
better and more responsive to patients, improves communication and the
physician-patient relationship, improves overall health, and contains cost, all the
while avoiding the past pitfalls of the old genetics: eugenics, stigmatization, and
discrimination. That’s a big order!
A genomics that improves our medical care and our lives is only possible if
we as citizens, consumers, and patients all critically engage with the science of
genomics. Critical engagement is possible because genomics can and should be
made accessible to non-specialists and the “lay public.” It is also a good time for
public engagement because genomics has so far been actively introduced into
clinical medicine primarily in two areas: prenatal screening and cancer research.
Cancer research is also at the core of the genomic medicine initiative which
President Obama announced in his 2015 State of the Union address, relabeling
personalized medicine, “precision medicine.” As the president later put it, jump-
starting genomic research with new federal funding is one of his few budget
proposals that has strong bipartisan support. A major component of the
president’s new genomic initiative is the planned construction of a massive DNA
data bank with a million Americans sharing their personal, medical, and
genomic information. This data bank can only be built and used, the president
underscored, if the privacy of the participants can be credibly protected. Four of
the ten chapters of this book specifically address each of these areas: precision
(genomic) medicine, prenatal screening, cancer treatment, and genomic privacy.
The other six are interconnected: the nature of genomic information, nature and
nurture, pharmacogenomics, reprogenomics, children, and “genomics future.”
One of the themes of this book is that the coming flood of genomic information
is likely to make at least some of your medical treatment more “precise” and
“personalized,” but this flood of genomic information will also bring you and
your physician new levels of uncertainty. The cliché is true: we do not know the
future, and even with genomics we can no more predict our future health with
certainty than we can predict the weather, or even the next terrorist attack.
We are a health lawyer-bioethicist (George) and an obstetrician-
gynecologist-geneticist (Sherman) team who have worked together on the
clinical aspects of genomics for more than three decades, during which we have
published academic books and articles, participated in national and international
clinical and legal programs, and worked together on ethics panels. Our working
partnership is unusual. Physicians routinely see lawyers as predators, and
themselves as their prey. On the contrary, our work together has reinforced our
view that cooperation between medicine and law, and genomics and society, is
an essential ingredient for progress. Only a genomic medicine that accounts for
the values and concerns of the public and patients, is likely to produce useful,
accessible, and affordable innovations that can improve your life and health.
Genomic Messages contains many stories of real patients. These stories are from
Sherman’s own patients (with identities masked), cases published in the medical
literature, and celebrity patients who have made their own stories public.
When we began Genomic Messages, Sherman had no reason to even suspect
that he might not live to see it published. But shortly after the manuscript was
completed, Sherman died. His ideas, of course, live on in this book, and in the
lives of his family, colleagues, and the patients he cared for. George dedicates
Genomic Messages to Sherman; but Sherman and George had agreed to dedicate
this book to the future: to our grandchildren.
CHAPTER 1
The Coming Flood of Genomic Messages
The replication of DNA is a copying of information.
The manufacture of proteins is a transfer of
information: the sending of a message.
—James Gleick, The Information (2011)
W
e are surrounded by genomic messages much the way fish are surrounded by
water. Like fish, we pay little or no conscious attention to these messages. Our
bodies, nonetheless, are constantly interpreting the messages, and the way our
genes interact with each other and our environment determines the state of our
health. These messages are contained in the most remarkable molecule in nature
—deoxyribonucleic acid, or DNA. DNA contains the instructions for human
development, survival, and physiologic functions, as well as ensuring that our
biological information will be passed to our children and future generations.
Some genomic messages are visible on the surface of our bodies, including
facial structure, skin color, and height. Other messages predispose us to illnesses
that might be translated into diseases later in our lives. Genomic messages can
also be read from DNA samples taken from fetuses and newborn babies.
Whether translated, mistranslated, or ignored, our DNA and the messages we
derive from it will affect (together with our environment) how we live and how
we die, as well as the health and future of our siblings, children, and
grandchildren. Some of us will live long, others of us will die young; some of us
will develop colon or breast cancer, others will not; some of us will suffer from
premature dementia, others will age with minds fully functional. Of course, the
probability of death is still 100 percent for us humans. But we may be able to
lengthen our lives and improve their quality, and those are worthy goals for
medicine. The good news is that we may be able to prevent or treat some
diseases by reading the genomic messages in our DNA. For the immediate
future, however, we will only be able to probabilistically predict, but not prevent,
most diseases.
This book will help you make your own decisions about whether and how to
use the evolving genomics in your own life. To the extent that health insurance
companies, the government, and even your employers think that genomics can
save them money, they are likely to pressure you to use the new genomics. Also,
to the extent that private corporations believe they can make money by getting
you to use the new genomics, you will be subjected to commercials every bit as
pervasive as current prescription drug advertising on TV. In this book we will
tell you what we think and why, but we will strive to be as objective as we can to
help you decide whether to embrace or reject invitations to genomic
interventions. Our goal is to enable you to be a more informed and critical
consumer of the evolving world of genomics that will invariably affect you, your
family, and your ethnic community, perhaps profoundly.
Your ability to benefit from genomics will also depend, at least in part, on
decisions made by physicians, the medical profession, hospitals, biotech and
pharmaceutical companies, and public health officials—so we will suggest how
they can act to most effectively and reasonably make the fruits of genomics
available to the public, and how legislation and regulation could maximize the
benefits of genomics and minimize its dangers. Every literate citizen in the
United States will soon need to be familiar with genomic medicine, research, and
privacy, and importantly, our rights and the limitations of government and
corporate access to our DNA and that of our children.
Genomic Information
Most people use genetics and genomics interchangeably. This is consistent with
both popular and scientific usage. Nonetheless, technically, genetics refers to the
action of single genes, whereas genomics refers to the totality of our DNA and
its interaction with the environment, and the broader term will ultimately replace
the narrower one for most purposes. In most contexts, we will use genomics, but
in some contexts, especially historical, genetics will be more accurate. Genomic
messages are already beginning to change the practice of medicine and have the
power to radically alter how your physician thinks about you and thus how your