Facing Your Genetic Destiny

The use of predictive genetic tests is still limited to a handful of relatively rare and highly hereditary diseases, but that's about to change















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The Boomerang Effect

What is the real utility of a predictive test? It depends, geneticists say. A test is useful when it warns about a serious and clear risk of disease and, most of all, when there is a real possibility of preventing it, as in Marina's case. But the same information can boomerang when no countermeasure is at hand. Learning simply that a disease may or may not occur can lead to undue anxiety and limitations in our lives. Even worse, the results of such a test might give employers or insurance companies new grounds for discrimination.

boomerang

BOOMERANG EFFECT: The results of genetic testing can boomerang, producing more worry than useful information.

Today only a few genetic tests escape from this boomerang effect. They include susceptibility tests for certain cancers among people with strong family histories of the disease. Analyses of BRCA1 and BRCA2 or MLH1 and MSH2 genes, for example, reveal high risks of breast and ovarian cancer or colorectal cancer. In both cases, preventive options exist. Another susceptibility test for multiple endocrine neoplasia (MEN)--a rare cancer of the thyroid--is particularly useful: people with a mutation in a gene called Ret--which practically guarantees that they will develop MEN--can have their thyroid glands removed before the cancer arises.

But not all susceptibility tests are so successful. Take, for instance, a test for Alzheimer¿s disease. In 1993, after years of difficult work, researchers discovered that people with a variant of the gene for the fat-transporter apolipoprotein E, ApoE(4), face a 10-fold risk of Alzheimer¿s. Excitement for the discovery waned, however, when it became clear that up to 70 percent of all people with the ApoE variant would never develop the disease. Again, it is the boomerang effect: about 15 percent of all Caucasians carry the "bad" ApoE(4) version, but they hardly need to know that before an effective prevention becomes available. For this reason, guidelines from expert groups in Europe and in the U.S. recommend that the ApoE exam be used to confirm the disease in affected individuals but not as a predictive test in healthy people.

More generally, experts agree that the utility of a predictive test depends on the possibility of an effective prevention. Most likely, a growing number of diseases will be preventable in the future with drugs, vaccines, or gene therapies and stem cell transplants. When that happens, many predictive tests, which now are useless and even dangerous, will become powerful tools for helping us to secure our health.


IN PART II OF THIS STORY:
Available at www.sciam.com beginning next Monday, February 25, 2002

  • How SNP hunters are reshaping the future of genetics.
  • Reading your destiny using genetic chip technology.
  • Genetically tailored medical treatment: Is it around the corner?

    FURTHER READING:

    The complexities of predictive genetic testing, Evans, J.P. et al., British Medical Journal, 2001; 322:1052-6

    Epidemiology and prevention of coronary heart disease in families. Higgins, M., American Journal of Medicine, 2000 Apr 1;108(5):387-395

    Your Genetic Destiny, A. Milunsky, Perseus Publishing, Cambridge, Mass., 2001



  • 2 Comments

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    1. 1. RIPluto 09:50 PM 11/26/07

      It's one thing to test for a certain gene and find suitable preventive treatment for a linked disease or disorder.
      It's a completely different thing when one discovers a certain gene and worries day after day about whether or not the gene will be expressed.
      Is genetic testing worth the worry?
      Certainly, if one's family history suggests a high risk for certain cancers and preventive measures can be taken, testing could make all the difference (as in the cases of [i]BRCA1[/i] and [i]BRCA2[/i] or [i]MLH1[/i] and [i]MSH2[/i] genes).
      But, in most cases, finding that one has the gene for Alzheimer's or some other debilitating illness, and is left wondering whether or not the gene will be expressed is not really all that helpful.
      Is knowing that a illness is genetically linked going to change how one deals with it if it occurs?
      For diseases that don't have any kind of preventive treatment or measures, is knowing going to make any difference?

      Reply | Report Abuse | Link to this
    2. 2. southbayjewels in reply to RIPluto 04:31 PM 9/7/09

      I agree, The strees of wondering would probably cause me an illness itself.

      Reply | Report Abuse | Link to this
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