Genomics as a Final Frontier, or Just a Way Station
New York Times
Patricia Wall/The New York Times
The medical world is holding its breath, waiting for the revolution. It will be here any minute. Definitely by the end of the decade. Or perhaps it will take a little longer than that, but seriously, it’s right around the corner. More or less.
That’s the genomics revolution, with its promise of treatment focused on the individual rather than the group. At last, patients will be more than the product of their age, sex, ethnicity, illnesses and bad habits; treatments will be aimed like a laser at their personal genetic particulars, and if those genes are not quite what they should be, then those genes will be fixed.
Over the last few years, various breathless visions of this therapeutic future have been written out for public admiration. A particularly readable and comprehensive version can be found in Dr. Eric J. Topol’s new book, “The Creative Destruction of Medicine.”
Dr. Topol, a cardiologist and researcher at the Scripps Research Institute with the energy of 10 (if his prose style and his honor-laden biography are any indication), dispenses in short order with our current population-based medical strategies. They are wasteful and inexact, he points out, often marginally beneficial to the group and downright harmful to the individual.
He presents an array of far better ideas, a few now actually being practiced in rudimentary form. These include pharmacogenomics, in which specific genes that govern responses to medications are routinely assayed, and cancer treatments that probe tumors for specific genetic targets rather than relying on standard chemotherapy.
But that’s not all: Dr. Topol also points out that soon a person’s precise genetic data will be augmented by an extraordinary wealth of other digital data (provided by, say, the continuous monitoring of blood pressure, pulse and mood, and a variety of ultra-precise scans). The outcome will be nothing short of a new “science of individuality,” one that defines individuals “at a more granular and molecular level than ever imaginable.”
Some may be exhilarated at the prospect of their physicians’ knowing them so intimately. Others may be moved to reflect that just as they are more than their demographics, they are also far more than the sum of their various granules. For these contrarians, two other new books may appeal.
In “Am I My Genes?,” the psychiatrist and ethicist Dr. Robert L. Klitzman plunges readers into the world of genomic medicine as it exists today: a barely mapped terrain of immense overlapping uncertainties. Many thousands of patients are bravely stumbling along in there: The book is based on interviews with 64 whose family history suggested a risk for the mutations associated with breast and ovarian cancers, the neurological killer Huntington’s disease or the destructive lung condition alpha-1 antitrypsin deficiency.
Although written for an academic audience, this book should make compelling reading for anyone considering genetic testing for these or any other conditions: It provides an instant community of fellow travelers along with a sophisticated moderator. Dr. Klitzman moves through all the basic landmarks, including the big ones: “Do I want to know?,” “Whom should I tell?” and “Why me?”
But for uninvolved observers, perhaps most striking is the book’s clear demonstration that science of the future notwithstanding, human beings faced with illness or its likelihood tend to react in the same old human ways. They protest, weep, change their diet, blame stress, consult a psychic, consult another psychic, accept the inevitable and generally muddle through valiantly.
In other words, the genomic revolution may not wind up changing the landscape of illness quite as much as its proponents may envision: patterns of thought and reaction run deep. As one of Dr. Klitzman’s patients remarks calmly, “It might run in families, but I don’t think it’s genetic.” She may have the family cancer, but “now, everyone is showing up with cancer.” One suspects that even a dialogue with Dr. Topol would leave her unswayed.
And that is exactly the phenomenon that fascinates H. Sebastian Seung, a professor of computational neuroscience at M.I.T. whose “Connectome” lays out the newest research into why we think the way we do. For Dr. Seung, it is self-evident that you are more than your genes. The real you sits firmly within your skull, and while your brain’s 100 billion nerve cells may carry your genes, the “you” they form is shaped by the ways they connect to one another.
Here, too, a new science is being created: the neuroscience of “connectomics,” or the study of the immensely complex electrical and chemical connections among nerve cells that shape memory, personality and thought.
As a newborn, Dr. Seung writes, you are pretty much just a product of your genes and some initial random connections, but every second of your first few years adds to the cumulative web of connections that form you. By the time you are a toddler you have more synapses, or connections among your neurons, than you ever will again: In some ways the adult you is just an edited 2-year old, one of many eminently pleasing thoughts he sets forth.
This is complicated stuff, and it is a testament to Dr. Seung’s remarkable clarity of exposition that the reader is swept along with his enthusiasm, as he moves from the basics of neuroscience out to the farthest regions of the hypothetical, sketching out a spectacularly illustrated giant map of the universe of man.
Patricia Wall/The New York Times
The medical world is holding its breath, waiting for the revolution. It will be here any minute. Definitely by the end of the decade. Or perhaps it will take a little longer than that, but seriously, it’s right around the corner. More or less.
That’s the genomics revolution, with its promise of treatment focused on the individual rather than the group. At last, patients will be more than the product of their age, sex, ethnicity, illnesses and bad habits; treatments will be aimed like a laser at their personal genetic particulars, and if those genes are not quite what they should be, then those genes will be fixed.
Over the last few years, various breathless visions of this therapeutic future have been written out for public admiration. A particularly readable and comprehensive version can be found in Dr. Eric J. Topol’s new book, “The Creative Destruction of Medicine.”
Dr. Topol, a cardiologist and researcher at the Scripps Research Institute with the energy of 10 (if his prose style and his honor-laden biography are any indication), dispenses in short order with our current population-based medical strategies. They are wasteful and inexact, he points out, often marginally beneficial to the group and downright harmful to the individual.
He presents an array of far better ideas, a few now actually being practiced in rudimentary form. These include pharmacogenomics, in which specific genes that govern responses to medications are routinely assayed, and cancer treatments that probe tumors for specific genetic targets rather than relying on standard chemotherapy.
But that’s not all: Dr. Topol also points out that soon a person’s precise genetic data will be augmented by an extraordinary wealth of other digital data (provided by, say, the continuous monitoring of blood pressure, pulse and mood, and a variety of ultra-precise scans). The outcome will be nothing short of a new “science of individuality,” one that defines individuals “at a more granular and molecular level than ever imaginable.”
Some may be exhilarated at the prospect of their physicians’ knowing them so intimately. Others may be moved to reflect that just as they are more than their demographics, they are also far more than the sum of their various granules. For these contrarians, two other new books may appeal.
In “Am I My Genes?,” the psychiatrist and ethicist Dr. Robert L. Klitzman plunges readers into the world of genomic medicine as it exists today: a barely mapped terrain of immense overlapping uncertainties. Many thousands of patients are bravely stumbling along in there: The book is based on interviews with 64 whose family history suggested a risk for the mutations associated with breast and ovarian cancers, the neurological killer Huntington’s disease or the destructive lung condition alpha-1 antitrypsin deficiency.
Although written for an academic audience, this book should make compelling reading for anyone considering genetic testing for these or any other conditions: It provides an instant community of fellow travelers along with a sophisticated moderator. Dr. Klitzman moves through all the basic landmarks, including the big ones: “Do I want to know?,” “Whom should I tell?” and “Why me?”
But for uninvolved observers, perhaps most striking is the book’s clear demonstration that science of the future notwithstanding, human beings faced with illness or its likelihood tend to react in the same old human ways. They protest, weep, change their diet, blame stress, consult a psychic, consult another psychic, accept the inevitable and generally muddle through valiantly.
In other words, the genomic revolution may not wind up changing the landscape of illness quite as much as its proponents may envision: patterns of thought and reaction run deep. As one of Dr. Klitzman’s patients remarks calmly, “It might run in families, but I don’t think it’s genetic.” She may have the family cancer, but “now, everyone is showing up with cancer.” One suspects that even a dialogue with Dr. Topol would leave her unswayed.
And that is exactly the phenomenon that fascinates H. Sebastian Seung, a professor of computational neuroscience at M.I.T. whose “Connectome” lays out the newest research into why we think the way we do. For Dr. Seung, it is self-evident that you are more than your genes. The real you sits firmly within your skull, and while your brain’s 100 billion nerve cells may carry your genes, the “you” they form is shaped by the ways they connect to one another.
Here, too, a new science is being created: the neuroscience of “connectomics,” or the study of the immensely complex electrical and chemical connections among nerve cells that shape memory, personality and thought.
As a newborn, Dr. Seung writes, you are pretty much just a product of your genes and some initial random connections, but every second of your first few years adds to the cumulative web of connections that form you. By the time you are a toddler you have more synapses, or connections among your neurons, than you ever will again: In some ways the adult you is just an edited 2-year old, one of many eminently pleasing thoughts he sets forth.
This is complicated stuff, and it is a testament to Dr. Seung’s remarkable clarity of exposition that the reader is swept along with his enthusiasm, as he moves from the basics of neuroscience out to the farthest regions of the hypothetical, sketching out a spectacularly illustrated giant map of the universe of man.
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