Gene tests: Your DNA blueprint may disappoint, scientists say

By Robert Bazell,
Chief Science and Health Correspondent
NBC News

A readout of all of your DNA? You’ll get it soon. Many wealthy people have theirs already, but within years because of ever-accelerating technology it will be cheap enough for all, including every baby at birth.

So what will this “genetic blueprint” tell us of our future health?  Not much, according to an important study out Monday from a group of scientists at the Johns Hopkins University School of Medicine. They analyzed thousands of identical twins. Twins share the same genes from birth, so their experiences illustrate the insights to be gained from any individual knowing his or her genetic future.

The scientists looked at 24 common diseases and found that occasionally the complete genetic blueprint will alert people that they run a risk far higher than others for a certain disease. But most will get very little useful knowledge. The scientists presented their work at the annual meeting of the American Association for Cancer Research and published it simultaneously in the journal Science Translational Medicine

“Genomic tests will not be substitutes for current disease prevention strategies,” said Dr. Bert Vogelstein, one of the authors and a pioneer in the search for genes that increase cancer risk. 

So a blood test of the future will not free you from the need to eat healthy, exercise, keep extra weight off, not smoke and get useful cancer detection tests such as pap smears and colonoscopies. Nor will it relieve the ongoing possibility of nasty surprises about diseases you may have never feared.

But isn’t our genetic blueprint our destiny? Many scientists thoroughly believed that not long ago. As they have learned more about genes, however, that prediction appears ever more simplistic. 

Most diseases arise from a complex mixture of the genes we inherit from our parents at birth— not only what is measured in the whole gene test, but also our lifestyle and environment, and random events such as gene mutations occurring in individual cells in our body later in life.

One of the best examples of the dilemma of genetic testing comes from a test that has been on the market since 1996 for the cancer mutations called BRCA1 and BRCA2

If a woman is born with one of those mutations she has a 35 percent to 84 percent chance of developing breast cancer by age 70 and a 10 percent to 50 percent risk of getting ovarian cancer. Those odds are so high that women who test positive often elect to have their ovaries and/or breasts removed before cancer strikes. In those situations the test saves lives. But the problem is that fewer than one in 1,000 women carry those gene mutations.

And if women test negative for the gene mutations, the negative test does not at all mean she is in the clear. There are so many factors that increase risk for breast and ovarian cancer that a woman who tests negative for BRCA1 and BRCA2 only reverts to having the same lifetime risk as all other women – a 12 percent risk for breast cancer and 1.5 percent for ovarian cancer.

That set of complexities mirrors the situation for the thousands of other genes we carry that have some association with a disease.  If everyone has a complete gene profile, a small number can learn they have a great risk for something.  But for most, the information is minimally significant.

Not long ago many investors saw whole gene sequencing as a future gold mine. But these latest results show that the tests are unlikely to make many people wealthy -- or healthy.

Related stories:

Rethinking how we confront cancer: Bad science and risk reduction

Experts: Wide 'autism spectrum' diagnosis may explain diagnosis surge

Daily serving of red meat raises risk of cancer, heart disease

Robert Bazell is NBC's chief science and medical correspondent. Follow him on Facebook and Twitter.

Discuss this post

Um, There actually is a blood test that substitutes for a pap smear. It is actually more accurate than a pap smear, but it is very expensive so most doctors aren't recommending it (and most insurance probably doesn't cover it either). A blood test obviously can't substitute for a physical exam if there are certain other conditions you are at risk for, but it is very accurate at detecting whether or not you have abnormalities due to HPV.

Thought I'd point that out...

    Reply#1 - Mon Apr 2, 2012 12:56 PM EDT

    Yes and no - while there is blood test for HPV and it will tell you which type(s) of HPV the individual has - it won't replace the pap smear (nor it is more accurate). The reason is related to what you said - the physical exam component is important. A pap smear can look for cervical dysplasia - which would indicate the need for a biopsy - the blood test cannot tell if there is cervical dysplasia.

      #1.1 - Mon Apr 2, 2012 1:10 PM EDT
      Reply

      Isn't the conclusion of this article the whole point of genetic testing? I don't need to know if I'm supposed to be a good athlete or a brilliant philosopher - I just want to know if I have a significantly elevated risk for certain ailments so that I can be better prepared or even take preemptive measures. A "normal" result would not cause me to become a fat slob.

      • 3 votes
      Reply#2 - Mon Apr 2, 2012 1:10 PM EDT

      The medical insurance business people just passed out. They won't be able to reject you after a DNA test. Another ten years and maybe the scientists will be able to find out more about DNA. For now, were are safe from Big Brother on that aspect.

        Reply#3 - Mon Apr 2, 2012 1:22 PM EDT

        I am more interested in what it would tell me about my past, where my ancestors came from etc than what my future may or may not hold.

        • 6 votes
        Reply#4 - Mon Apr 2, 2012 1:23 PM EDT

        Get the big picture of your DNA past by going to National Geographic's genographic site. If you want to connect your relatives check out Family Tree DNA project. It will cost you about $100 for the 1st site and, if you want more testing of your DNA, it could cost about $200 more. I was able to connect back from my 5th generation to the 6th older then back to 15 generations on one side and 23 generations on another. Hope that helps.

          #4.1 - Tue Apr 3, 2012 1:28 PM EDT
          Reply

          It's worth pointing out the 98% of the 'human' genome is shared with chimpanzees. If you didn't know exactly where to look, your DNA couldn't even tell you whether or not you have a tail.

            Reply#5 - Mon Apr 2, 2012 4:17 PM EDT

            It's worth pointing out the beauty of biochemistry is that it's fairly ubiquitous across species, no matter who or what shares a similar genetic sequence. As the article points out, trying to "decode" whether you are at higher risk of a disease requires studying the genetics and the environmental, which is complicated further by things like random mutations that pop up in a relatively few cells- i.e. cancer.

            We know a lot about DNA, and interstingly it's telling us to look also at the metabolome and proteome in addition to the genome- that means all the metabolites created by proteins, and proteins created by genes that are expressed by the cells in your body as they grow. These tell scientists about the cells' overall health, growth rate, stress levels, etc. So it doesn't really matter if the cell is a bacterium, plant cell, mammalian, fish, whatever...the signals inside the cell are often similar.

            I think the biggest problem is articles like these, that don't do the best job of explaining the real details.

              #5.1 - Mon Apr 2, 2012 9:37 PM EDT
              Reply

              Isn't this article like saying that if I walk on ice I'm at a higher risk for falling?

                Reply#6 - Mon Apr 2, 2012 7:30 PM EDT

                Doctors don't have the faintest idea of what's going on.

                After 101 years of corporate, profit driven medicine backed with a government monopoly, the knowledge is just gone.

                  Reply#7 - Mon Apr 2, 2012 9:34 PM EDT

                  That is the most ridculous ignorant statement I have ever heard. I have a couple of family members who are living with chronic diseases that are controlled by medications. Just a few years ago without those medications my family members would be dead. Since one of them is one of my children I am forever grateful to science for having come up with a medication that worked to save his life. Today he is a healthy human that takes care of himself and is living his potential because of what DR'S knew and know. Get a clue.

                    #7.1 - Wed Oct 3, 2012 12:18 PM EDT
                    Reply

                    There is no magic potion, procedure, or gift to good health. Just live with as few vices as you can and get plenty of exercise. Get an anual exam and talk to your doctor, don't just listen. Do listen to your doctor's suggestions and go out there online and find out more information if and when you need it.

                      Reply#8 - Tue Apr 3, 2012 8:09 AM EDT

                      Just as long as my DNA map shows I am alive and not related to Mitt Romney or Barack Obama, I'm fine.

                        Reply#9 - Tue Apr 3, 2012 11:22 AM EDT

                        Ive always known that genes do not predict future.

                          Reply#10 - Tue Apr 3, 2012 8:21 PM EDT
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