The author subjects himself to genetic tests, scans and other high-tech diagnostics to report on how the trend toward "personalized medicine" will affect us
Posted 07.31.2005 at 2:00 am
3 Comments
What's left of the General Tso's chicken is on the coffee table. The sauce that eluded my mouth is congealing on my T-shirt. American Idol just started. And Megan, my fiance of three days, is getting ready to swab the inside of my mouth with Q-Tips that are nearly as long as chopsticks. "OK, open that mouth," she says. "Wider." She is a doctor. I do as I'm told. "You know, these look like little Pap-smear brushes," she muses. My mouth snaps closed. "C'mon, open up," she says. I stall. "I love you," I say. "Kiss me." "Let me concentrate," she says. "What if I don't do this right?" "Then," I reply, "I guess I'll never know if I'm gonna die." Megan, at my behest, is after my DNA, because I am after the future of my body. This was my assignment: to take every medical test I could get my hands on to predict what will happen to my body 5, 10, 15 years from now. I set out to find the most advanced diagnostics available, early examples of technologies that would get me as close as possible to the future of medicine, when doctors will use genetic and imaging tests to predict what diseases a person is prone to developing. When illness does strike, treatments will be tailored to each patient. The researchers, doctors and drug companies working on this new gene-based paradigm are calling it personalized medicine. Their buzzphrase: "The right treatment for the right person at the right time."
In many ways, my editor handed me my dream job. I have nursed a rather robust interest in my robust body for some time, starting when I asked my parents, at the age of 12, to take me to the doctor because I felt a lump under my left nipple. They indulged me-and they did so again a few years later when, during a tour of colleges, I was so certain that I was dying from a urinary tract infection that I made them rush me to a hospital in Columbia, Missouri. The diagnoses: normal nipple, normal urine. Before I met Megan, I had no idea doctors called people like me "the worried well." This was good news; I had assumed I was just a hypochondriac.
Sitting here on our couch, though, my fiance and I have to acknowledge the peculiar irony that something could, in fact, be wrong with me, that I might be harboring genes that will send me into the ground sooner than planned. That this might be bigger than my nipple.
"If it turns out that you're going to get some crazy disease, you can sell the engagement ring and use the money for your treatment," Megan tells me, only half joking. She tilts my head so she can grind the swabs deeper into my cheeks.
Sounding like people do when they have a dentist's fingers in their mouths, I ask, "Are you doing this right?"
"I am not an idiot," Megan says, sounding just like herself.
I slip each swab into a padded envelope with extra-sticky sealing, so as not to leak bodily fluid on the FedEx man. In a couple weeks I hope to have a good idea of what will kill me, and when. I smile at Megan. And she says, "I should have waited for the results before I agreed to marry you."
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This type of preventatic measures is both good and bad. I support the theory of knowing where our genetic weaknesses may effect our life span, yet to fear the future due to that knowledge will increase potential for mental anguish and anxiety that does not help the worried well.
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You forgot metabolomics! That is a future of medical diagnostics and personalized medicine.
See:
Revolution in personalized medicine: First-ever integrative 'omics' profile lets scientist discover, track his diabetes onset
BY KRISTA CONGER
Renee Reijo Pera
Geneticist Michael Snyder, PhD, has almost no privacy. For more than two years, he and his lab members at the Stanford University School of Medicine pored over his body’s most intimate secrets: the sequence of his DNA, the RNA and proteins produced by his cells, the metabolites and signaling molecules wafting through his blood. They spied on his immune system as it battled viral infections.
Finally, to his shock, they discovered that he was predisposed to type-2 diabetes and then watched his blood sugar shoot upward as he developed the condition during the study. It’s the first eyewitness account — viewed on a molecular level — of the birth of a disease that affects millions of Americans. It’s also an important milestone in the realization of the promise of truly personalized medicine, or tailoring health care to each individual’s unique circumstances.
The researchers call the unprecedented analysis, which relies on collecting and analyzing billions of individual bits of data, an integrative Personal “Omics” Profile, or iPOP. The word “omics” indicates the study of a body of information, such as the genome (which is all DNA in a cell), or the proteome (which is all the proteins). Snyder’s iPOP also included his metabolome (metabolites), his transcriptome (RNA transcripts) and autoantibody profiles, among other things.
"Although many of the activated and repressed pathways
could be detected through transcript profiling, some were detected only with the proteomics data and some with the combined set of data. In addition a large number of connections with diabetes and insulin signaling using metabolites, miRNAs, and autoantibodies were observed."