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Medical Breakthrough on Its Way

The medical world may be on the verge of a major breakthrough on par with the discovery of penicillin. As profiled in this NYT piece, a number of Silicon Valley companies and entrepreneurs are looking to lower the price of genome sequencing to the point that it will be within reach of the average consumer (below $1,000)—a development which could lead to the biggest revolution in drugs and medical treatments in years.

This is extremely good news. New advances in medical technology offer the opportunity to make healthcare both better and dramatically cheaper for millions of people, which is no small achievement at a time where healthcare expenses are nearing 20 percent of GDP and threatening to bankrupt the country. Genome sequencing could also create treatments for debilitating diseases which are currently incurable; personalized medicine could become the key to problems which have vexed doctors for decades.

More generally, this news is a reminder that the rapid scientific progress that is driving all the change around us is not slowing down. Scientific progress is rarely smooth, of course, as this recent WSJ piece on the problems with personalized medicine can attest, but it’s a net positive. In the future, people will receive effective treatments for diseases which are a death sentence today, and at a fraction of the cost of modern medical treatments. Even the staunchest Luddite should be happy about that.

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  • Luke Lea

    As big as penicillin? That remains to be seen. So far the health benefits of sequencing have been far less than predicted. As in close to zero.

  • Marshall

    I suspect that the first benefit of this kind of sequencing will not be “personalized medicine” as much as “given your genes, treatments (a) and (b) will be much less effective than (c)” – and so people can get the treatments that will work best _for them_

  • WigWag

    It should be noted that the thousand dollar personal genome which is surely coming is a product of the “blue” model that Professor Mead loves to excoriate. While much of the equipment used to sequence the genome was developed in the private sector most of the bioinformatic software was funded by the government through the National Institutes of Health (part of HHS), the Department of Energy, the Department of Agriculture and the Department of Defense. Most importantly, virtually all of the DNA samples (DNA is typically derived from blood or saliva) from both people with various diseases and non-effected controls were collected by investigators using grant funds from the NIH.

    Without government funded cohorts those gene sequencing machines would be sitting around collecting dust. Without the statistical geneticists and systems biologists whose university salaries are underwritten with government grants the miracle that Professor Mead writes about would never come to pass.

    The United States Government spends more on biomedical research than all the major pharmaceutical companies in the world put together. It spends more on basic research than all of the rest of the world’s governments put together.

    The enterprise that Professor Mead and his colleagues are raving about is nothing less than the “blue” model on steroids.

    Score one for “blue.”

  • ms

    I’m not sure I really want to know what is in store for me. What if I learn I have a high probability of alzheimers, cancer or some other debilitating disease? Will I constantly be interpreting what happens as proof that the disease is developing? Will I live in constant fear? And, in a world where western nations are always flirting with euthanasia, it seems like the knowledge that a person is destined to suffer from a particular illness might cause more to choose death rather than face what seems inevitable. I hope this will mean that better treatments can be developed, but you have to wonder what the negatives will be.

  • Mrs. Davis try wiggy. From the NYT, a source you would probably use,

    The N.I.H.’s human genome project was then working on E. coli, a widely studied bacterium, but progress was slow.

    In a prelude to later events with the human genome, Dr. Venter figured he could be first to decode a bacterium with a novel method called the shotgun technique. He applied for an N.I.H. grant but started the project with other money. When it was almost complete, he has said, he received a letter from the N.I.H. rejecting his application because, in the view of an expert committee, it would not work.

    The committee included scientists involved in the N.I.H.’s part of the public consortium. Their rejection of Dr. Venter’s idea set the pattern of an adversarial relationship that has continued until the last few weeks.

    Sure the feds threw money at it. They throw money everywhere. Doesn’t mean it’s well spent. Or a credit to the discredited blue model.

  • WigWag

    With all due respect Mrs Davis you don’t know much about molecular biology. Perhaps this is one area that like Professor Mead, you don’t think any special expertise is needed to discover new genes, just common sense and an aversion to counter-intuitive thinking.

    Here’s a primer for you. For sequencing an individual genome to have any value, it’s necessary to identify genes associated with specific disorders or conditions. For a small number of diseases, only one gene mutation is involved (fragile X, Retts Syndrome and Huntington’s Disease are examples). For most genetic diseases many genes are involved (type I and type 2 diabetes, multiple sclerosis, lupus and autism are examples). These diseases are occasionally caused by a combination of a small number of common genes or more often by a combination of a large number of uncommon genes (called rare variants). To complicate matters still further few genetic diseases are exclusivey caused by genes; many if not most have an environmental trigger.

    The way scientists discover the genetic mutations associated with disease is to collect huge samples of blood (or occasionally saliva) samples from thousands of people who have the disease and compare their genes with control samples from people who don’t have the condition. The actual gene samples are “read” by gene sequencing machines of the type Professor Mead mentioned in his post.

    The more genes implicated in a particular condition and the more rare the variants that cause the disease the more samples are needed to discern what gene sequences cause the problem. Just to find one gene thousands of blood samples are needed. For a disease caused by many genes such as Type 2 diabetes tens and perhaps hundreds of thousands of individual samples are needed.

    Without knowing the genetic sequences that cause medical problems, sequencing an individual’s genome for ten dollars, a thousand dollars or ten thousand dollars is useless.

    The government through the agencies I mentioned in my post above pays the vast majority of the costs associated with identifying cohorts of people with various conditions, it pays the costs of extracting and then immortalizing the DNA from the blood or saliva samples and it pays most of the costs associated with the extraordinarily complex mathematical analysis of the results that come streaming out of the machines.

    The United States government has spent tens of billions on this process; dramatically more than private industry and far more than voluntary health agencies like the American Cancer Society or the American Heart Association.

    I’ve actually grossly simplified the process; it’s actually far more complicated. Again, to use diabetes as an examples, some diabetics lose their kidney function while some don’t. Some diabetics lose their eyesight while some don’t. Genes are responsible for at least some of these differing outcomes. Tracking what patients suffer from what complications and associating that with the genetic differences between these patients take enormously complicated and expensive databases. The databases are not only costly to develop, they are costly to maintain. Almost all of this is paid for by government.

    Let me mention one last factor; once a gene associated with a disease is discovered it is critical to determine how the gene actually works in living beings (this is called functional genomics). Most of this work can’t ethically be done in people so the experiments take place in animals (mostly mice and rats). You would be amazed how expensive it is to develop, breed and maintain animal colonies. Again, the NIH shoulders most of the costs. For the most part, pharma piggy backs on the preliminary science supported by government and in many cases scientists working for pharma are actually eligible for NIH grants.

    As I said earlier, biomedical research in the United States is a huge government sponsored and funded project. It’s the “blue model” on steroids.

    When the thousand dollar genome becomes possible and when it improves human health by revealing what genes we have that might someday inspire health problems in us, it will be the government and the blue model that might literally save our lives.

  • lhf

    If this attempt succeeds, and health care moves toward the personal, it makes no sense to mandate health insurance coverage for specific tests/treatments. It would be better to permit individuals, perhaps armed with genome sequencing information about themselves to select from a menu of screenings/treatments that work for them.

    In fact, I would prefer such an arrangement right now. Why should “free” coverage be mandated for, say, mammograms, if you are relatively too old for them and would rather have testing for Vitamin D or B12 – which you now must pay for out of pocket.

  • WigWag

    A perfect example of government funded (that would be “blue model”) biomedical research saving millions of lives comes from the work of two investigators who won the Nobel Prize for Medicine in 1985; Joe Goldstein and Michael Brown (Professor Mead might be interested to know that Goldstein was born in Sumter, SC).

    The two scientists won their prize for work they did in the late 1970s unraveling the genes that regulated a particularly rare but noxious disease that was then untreatable; familial hypercholestolemia. The techniques they used to do their genetic analysis were by standards of today incredibly primitive.

    Their success led directly to the development of statin drugs (eg lipitor, zocor) that have prevented in the intervening years tens of thousands of heart attacks, reduced the need for angioplasty and by-pass operations and saved countless lives.

    Without Brown and Goldstein’s work statins would never have been developed by pharmaceutical companies.

    Brown and Goldstein both got their training as postdoctoral fellows on the NIH campus in Bethesda, MD where they were government employed scientists. Subsequently they joined the faculty of the University of Texas in Dallas where virtually all of their research into cholesterol metabolism was funded with government grants.

    There are numerous other examples. One thing is clear; the “blue model” in medical research has saved millions of lives. It is still the prevailing model and it still works.

  • Mrs. Davis

    And it’s still inefficient and wasteful.

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