Today's post is from Clare Dunsford, author of Spelling Love with an X: A Mother, A Son, and the Gene that Binds Them. Dunsford is an associate dean in the College of Arts and Sciences at Boston College and has been a contributing writer for Boston College Magazine. She was previously an adjunct lecturer in English at Boston College and Harvard University.
Maybe you have heard of the HGP, the Human Genome Project. But have you heard about the PGP-10? This daring group of ten genetic pioneers has agreed to post their personal genomes on the Web in an effort to create a database of information that may lead to faster cures for genetic diseases. Very few of us have anything but the vaguest and most anecdotal information about the genes we carry: "I've got Aunt Hilda's hips and Uncle Frank's short temper." Certainly my family and I were not aware of our own genetic inheritance before my son's diagnosis with fragile X syndrome in 1993; the FMR1 gene wasn't even discovered until two years before. Fragile X is the most common inherited cause of mental impairment and the most common known cause of autism.
When I sat in front of a genetic counselor a couple of years after the initial diagnosis, I saw my family arrayed before me like a poorly designed Tinkertoy—a bunch of squares and circles connected by lines. The genetic counselor informed me that every person carries six to eight genes that are problematic. I just happened to know the name of one of mine. FMR1 this little creature is called. When a section of nucleotides called CGG repeats too many times, a vital protein is not produced, leading to cognitive disability, emotional difficulties and attention deficit.
In the fifteen years since my family learned of fragile X, the full human genome has been sequenced, much more quickly than anyone predicted, and genetic tests have been developed for over 1500 conditions. Some day (if you don't already) you will know the name of one of your own genes, one of the half dozen that carry the potential to make you ill or change your personality or cause you to bear a child who will never be independent.
I hope the PGP-10 know what they're doing. Genetic information is as powerful as an atom bomb and for some of the same reasons: explosive reactions result from matter at the molecular level. When my son was diagnosed with fragile X and I had to tell my extended family, his diagnosis spread to three of his cousins and mine as a carrier to three of my siblings. All our lives have changed irrevocably. We're glad we know the cause of our children's challenges, but we feel the stigma of classification and scientific scrutiny. Put it this way: I'd rather my genes were anonymous.
But what happens when they're not? On May 21 of this year President Bush signed into federal law the Genetic Information Non Discrimination Act (GINA), a bill that Senator Edward Kennedy has called "the first major new civil rights bill of the twenty-first century." The law protects all of us against discrimination by health insurers and employers on the basis of our genetic information. It's a promising start toward appreciating and controlling the power of the genetic discoveries scientists are making daily.
But as citizens we must all be vigilant. While you await the day you learn the name of your own troublesome gene, here's what you can do. If you're still in school, study your science; learning some genetics is as practical as learning how to drive. Read carefully the newspaper articles about genetic discoveries that you are tempted to skip over. Check out the web site of the National Human Genome Research Institute (www.genome.gov). Gather a family medical history. You might be tempted to order genetic tests from a growing number of online companies who offer to survey your personal genome and interpret it. Be wary of their claims: California and New York have cracked down on some of these companies for operating without state licenses and offering tests without clinical validity, that is, the ability to determine the probability of a genetic variation to affect you.
And while you're at it, consider contributing to the National Fragile X Foundation or FRAXA Research Foundation. My family thanks you, and hopes we can return the favor when your gene gets a name. After all, we are all one human family, circles and squares linked by lines of genes—the living bonds of human kinship.
You might also be interested in Clare Dunsford's previous post for Beacon Broadside, or in Suzanne Kamata's post about turning to literature when her daughter was diagnosed with cerebral palsy.