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Amy Boesky

Genetic testing questions

By Amy Boesky
July 9, 2010

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SCIENTISTS HAVE just discovered a gene that may predict who among us will live exceptionally long lives — 100 years or more. But given what’s happened with genes for other diseases and conditions, we may not be ready yet as a culture for the ethical and pragmatic quandaries that come with this new information.

Scientists have long wondered what enables certain individuals to live decades beyond the normal lifespan. Healthy living is part of it, but now we know “good genes’’ also play a part. Last week, researchers at Boston University, led by Dr. Thomas Perls, discovered a “genetic signature’’ of human longevity. Though Perls worries about the consequences of testing for this predisposition, we may someday know who has this gene, and who doesn’t.

In the meantime, many questions need to be answered. Do we really want to know who carries this gene, and if so, what’s the best way to learn it? Will the government let an individual company patent the gene and control its research? Should tests for the gene be marketed over-the-counter and sold at big-box stores? Perls urges caution in marketing genetic longevity tests, worrying that insurance companies might abuse the information. But as a culture, we should also be concerned about more subtle kinds of discrimination. What happens to us when we begin to see each other’s futures in terms of our DNA? What will prevent the formation of a brave new world of genetic hierarchies?

The public needs to get informed before choices are made for us. Over the past year, linked to ongoing lawsuits, new debates have come to light: Should genes should be patented? Should “personal genetic test kits’’ be regulated by the FDA? There is also the issue of how and where these tests should be available.

In May, Walmart announced it would begin stocking personal genetic testing kits. After criticism from the FDA, Walmart held off, but for $249 consumers can buy these kits from Pathway Genomics online, mail in a test tube of saliva and learn whether or not they carry up to 70 different genetic markers, for conditions from Parkinson’s to Alzheimer’s to breast cancer. Will the information they receive be reliable? Even if it is, they won’t learn how this news may profoundly change their lives

As a member of a family that carries the BRCA1 mutation (a gene that greatly increases the likelihood of developing breast and/or ovarian cancers), I worry that broad commercialization of genetic tests may compromise reliability and take crucial genetic counseling out of the testing process. The lawsuit between the ACLU and Myriad Genetics, the Utah-based company that has held patents on the BRCA genes since 1994, exposes conflicts of interest that arise when genetic screening becomes big business. Patients may be unable to afford testing, may be denied second opinions or find themselves left with ambiguous results.

But Myriad’s control of the BRCA genes is just the tip of the iceberg. Questions about the commercialization and regulation of genetic tests require thoughtful care and debate. Who regulates personal genetic test kits? Who gets access to our genetic profiles once we’ve obtained them, whether from Walmart or from a medical lab?

The announcement of a “longevity gene’’ should serve as a wake-up call for all of us. When it comes to Parkinson’s, BRCA1 or 2, or Alzheimer’s, among many other conditions, it’s too easy to shrug off genetic testing as someone else’s (unlucky) problem.

Lifespan, on the other hand, is something we all have. And whether it’s short or long, we need to think together about what to do with our new capacities to measure it.

Amy Boesky, associate professor of English at Boston College, is author of the forthcoming “What We Have,’’ about her experience with BRCA .

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