Jan. 10, 2012 at 7:00 PM ET
The claim by Ion Torrent on Tuesday that a reasonably affordable machine capable of mapping an individual’s complete genetic makeup for $1,000 will be ready by the end of the year has technology geeks in a tizzy.
The $1,000 genome has been hotly sought ever since a crude map of the human genome was first published in 2001. The Carlsbad, Calif. biotech company, part of Life Technologies, will sell its device to research labs and medical clinics for $99,000 to $149,000, compared to the current price of about $750,000 for existing sequencers, Reuters reported on its website Tuesday. According to Reuters, a doctor will be able to sequence a patient’s entire genome for $1,000, compared to the current rate of $3,000 just to test for breast cancer gene mutations, for example. And the company says its new machine can complete the genome analysis within a day, rather than the two months previously needed.
It's widely believed this type of genetic analysis will revolutionize medicine, that patients will learn their risk profile for potential diseases by having their DNA read right in the doctor's office. Drugs and vaccines will be designed to fit our genes, in order to maximize efficacy and minimize any side-effects. Newborn babies would have someone peek at their genes so parents could take steps to prevent genetic risks from becoming realities.
Sounds good. The company sure hopes Wall Street buys it. And so do a lot of people hoping to sell you genetic tests. But I am not convinced.
We still don’t know all the significance of small variations in genes for health. Nor do we have studies of genetic risk factors involving large numbers of people or across a broad spectrum of racial and ethnic groups. Without that information, personalizing treatment to fit your genome is more a marketing slogan than meaningful medicine.
Besides, who is going to explain your test results? Your doctor may have had only a couple of classes on genetics in medical school. There aren’t enough genetic counselors to meet even current demand. And pharmacists are only now starting to be educated about the relationship between genes and drugs.
The biggest downer for those dreaming of all the good to come from cheap genetic testing may be simple human nature. It’s not clear that the average person will do anything about a known risk. As it is, about one-third of Americans are so obese they face high risks of chronic health problems such as diabetes and heart disease.
Will genetic information be any more motivating to get people to lose weight, stop smoking, reduce their stress, stay active, wear a seatbelt or a condom, than stepping on a scale or coping with a smokers’ hack?
Two cheers to scientists and businessmen for reaching the $1,000 genome. But, only two cheers. There is a long way to go before the achievement gets translated into bottom line health results that we can put to practical use.
Art Caplan, Ph.D., is the director for the Center for Bioethics at the University of Pennsylvania. Follow him on Twitter @ArthurCaplan.
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