Malia Malik
BIO 150
Spring 2013

As Genetic Sequencing Spreads, Excitement, Worries Grow by ROB STEIN

(Summary by Malia Malik)

Since the cracking of the genetic code, researchers have been intrigued with the secrets concealed in our DNA. However, along with the fascination and curiosity has come a plethora of fears- the likes of which were depicted in a 1997 movie, Gattaca. Little did anyone know that this so-called science fictional account of how a drop of blood could pretty much determine everything about us, would become a reality in just three short years. In 2000, President Clinton declared how an investment of three billion dollars and about a decade of untiring research had finally led to the decoding of the first entire human genome. Twelve years into the process, the price and the pace of this phenomenal procedure have plummeted astonishingly- only costing about four thousand dollars and taking as little as a few weeks to generate results. One company has produced a machine that resembles an oversized USB which is allegedly capable of spewing forth results within hours from a blood sample. Sequencing to pinpoint mutations in cancer patients, and to diagnose certain genetic conditions is well underway- with some healthy individuals joining in the sequencing bandwagon. George Church, a Harvard geneticist and initiator of the Personal Genome Project, aims to gather several thousand people from across the globe, who would be willing to post their sequencing results- along with other personal information- online. “We are hoping to get a preview of personalized medicine- and share that preview worldwide,” he explains. With the price predicted to soon reach that of a basic MRI ( approx. $1000 ), genetic sequencing may become routine, but not without a certain degree of apprehension. The accuracy of the results combined with the doctors’ ability to decipher them, raises concerns. A misinterpretation might be the cause of undue stress in subjects, not to mention the question regarding privacy. Recently, sequencing of the first fetus in utero has increased the likelihood of possible sequencing in the womb, or after birth, for everyone in the near future. Mark Rothstein, a bioethicist at the University of Louisville, strongly opposes whole genome sequencing. He claims that “there are lots of populationwide and individual dangers” involved. He argues that we aren’t ready for the possibility of having such comprehensive genomic information about everyone so openly available. Regardless of the issues, genome sequencing is, and will continue to become, increasingly common. The repercussions associated with it however, may be a bit too much to stomach. For me, the topic of genetic research hits home. Having one child with a genetic condition called achondroplasia (the most common form of short-limbed dwarfism), my husband and I were terrified at the prospect of having another child. As fate would have it though, in January of 2012, I discovered that I was pregnant again. With genetic testing now available for screening a great number of genetic conditions, and it being performed on both prospective parents and fetal tissue (Tortora), the doctors suggested that I get it done to screen for the mutant gene responsible for achondroplasia. In the case of a positive result, I would have the option to abort. As a complete disbeliever in abortion, I opted to forgo the test. At twenty-six weeks gestation, I was admitted to the hospital for polyhydramnios (an excess amount of amniotic fluid). Since this was something that I was diagnosed with in my previous pregnancy, I was petrified. My OB-GYN ordered a detailed sonogram to